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Items: 1 to 20 of 450

1.

rs781564785 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:41016893 (GRCh38)
    12:41410695 (GRCh37)
    Canonical SPDI:
    NC_000012.12:41016892:C:T
    Gene:
    CNTN1 (Varview), LOC107984496 (Varview)
    Functional Consequence:
    2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000016/2 (ExAC)
    T=0.000024/6 (GnomAD_exomes)
    HGVS:
    2.

    rs781527414 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      12:40933839 (GRCh38)
      12:41327641 (GRCh37)
      Canonical SPDI:
      NC_000012.12:40933838:A:C
      Gene:
      CNTN1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000008/1 (ExAC)
      C=0.000014/2 (GnomAD)
      HGVS:
      4.

      rs781106271 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:41025156 (GRCh38)
        12:41418958 (GRCh37)
        Canonical SPDI:
        NC_000012.12:41025155:T:C
        Gene:
        CNTN1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by cluster
        MAF:
        C=0./0 (Korea1K)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000008/1 (ExAC)
        HGVS:
        6.

        rs780982356 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          12:40943656 (GRCh38)
          12:41337458 (GRCh37)
          Canonical SPDI:
          NC_000012.12:40943655:G:A,NC_000012.12:40943655:G:C,NC_000012.12:40943655:G:T
          Gene:
          CNTN1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000066/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000008/1 (ExAC)
          A=0.00006/1 (TOMMO)
          T=0.000223/1 (Estonian)
          HGVS:
          NC_000012.12:g.40943656G>A, NC_000012.12:g.40943656G>C, NC_000012.12:g.40943656G>T, NC_000012.11:g.41337458G>A, NC_000012.11:g.41337458G>C, NC_000012.11:g.41337458G>T, NG_012058.2:g.256101G>A, NG_012058.2:g.256101G>C, NG_012058.2:g.256101G>T, NM_001843.4:c.1439G>A, NM_001843.4:c.1439G>C, NM_001843.4:c.1439G>T, NM_001843.3:c.1439G>A, NM_001843.3:c.1439G>C, NM_001843.3:c.1439G>T, NM_175038.2:c.1406G>A, NM_175038.2:c.1406G>C, NM_175038.2:c.1406G>T, NM_001256063.2:c.1439G>A, NM_001256063.2:c.1439G>C, NM_001256063.2:c.1439G>T, NM_001256063.1:c.1439G>A, NM_001256063.1:c.1439G>C, NM_001256063.1:c.1439G>T, NM_001256064.2:c.1439G>A, NM_001256064.2:c.1439G>C, NM_001256064.2:c.1439G>T, NM_001256064.1:c.1439G>A, NM_001256064.1:c.1439G>C, NM_001256064.1:c.1439G>T, XM_011537926.3:c.1439G>A, XM_011537926.3:c.1439G>C, XM_011537926.3:c.1439G>T, XM_005268651.2:c.1439G>A, XM_005268651.2:c.1439G>C, XM_005268651.2:c.1439G>T, XM_005268651.1:c.1439G>A, XM_005268651.1:c.1439G>C, XM_005268651.1:c.1439G>T, XM_011537927.2:c.1439G>A, XM_011537927.2:c.1439G>C, XM_011537927.2:c.1439G>T, XM_006719241.2:c.1439G>A, XM_006719241.2:c.1439G>C, XM_006719241.2:c.1439G>T, XM_017018827.2:c.1439G>A, XM_017018827.2:c.1439G>C, XM_017018827.2:c.1439G>T, XM_017018826.2:c.1439G>A, XM_017018826.2:c.1439G>C, XM_017018826.2:c.1439G>T, XR_002957290.1:n.2029G>A, XR_002957290.1:n.2029G>C, XR_002957290.1:n.2029G>T, XR_002957289.1:n.1782G>A, XR_002957289.1:n.1782G>C, XR_002957289.1:n.1782G>T, XR_002957288.1:n.1661G>A, XR_002957288.1:n.1661G>C, XR_002957288.1:n.1661G>T, XR_002957291.1:n.1653G>A, XR_002957291.1:n.1653G>C, XR_002957291.1:n.1653G>T, XM_024448843.1:c.1439G>A, XM_024448843.1:c.1439G>C, XM_024448843.1:c.1439G>T, NP_001834.2:p.Gly480Asp, NP_001834.2:p.Gly480Ala, NP_001834.2:p.Gly480Val, NP_778203.1:p.Gly469Asp, NP_778203.1:p.Gly469Ala, NP_778203.1:p.Gly469Val, NP_001242992.1:p.Gly480Asp, NP_001242992.1:p.Gly480Ala, NP_001242992.1:p.Gly480Val, NP_001242993.1:p.Gly480Asp, NP_001242993.1:p.Gly480Ala, NP_001242993.1:p.Gly480Val, XP_011536228.1:p.Gly480Asp, XP_011536228.1:p.Gly480Ala, XP_011536228.1:p.Gly480Val, XP_005268708.1:p.Gly480Asp, XP_005268708.1:p.Gly480Ala, XP_005268708.1:p.Gly480Val, XP_011536229.1:p.Gly480Asp, XP_011536229.1:p.Gly480Ala, XP_011536229.1:p.Gly480Val, XP_006719304.1:p.Gly480Asp, XP_006719304.1:p.Gly480Ala, XP_006719304.1:p.Gly480Val, XP_016874316.1:p.Gly480Asp, XP_016874316.1:p.Gly480Ala, XP_016874316.1:p.Gly480Val, XP_016874315.1:p.Gly480Asp, XP_016874315.1:p.Gly480Ala, XP_016874315.1:p.Gly480Val, XP_024304611.1:p.Gly480Asp, XP_024304611.1:p.Gly480Ala, XP_024304611.1:p.Gly480Val
          8.

          rs780778743 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            12:41027951 (GRCh38)
            12:41421753 (GRCh37)
            Canonical SPDI:
            NC_000012.12:41027950:T:A
            Gene:
            CNTN1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000008/1 (ExAC)
            A=0.000008/2 (GnomAD_exomes)
            HGVS:
            9.

            rs780747965 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              12:41029099 (GRCh38)
              12:41422901 (GRCh37)
              Canonical SPDI:
              NC_000012.12:41029098:C:G
              Gene:
              CNTN1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000012/3 (GnomAD_exomes)
              G=0.000016/2 (ExAC)
              HGVS:
              10.

              rs780698834 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:41014253 (GRCh38)
                12:41408055 (GRCh37)
                Canonical SPDI:
                NC_000012.12:41014252:A:G
                Gene:
                CNTN1 (Varview), LOC107984496 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000008/1 (ExAC)
                HGVS:
                12.

                rs780538212 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:41029135 (GRCh38)
                  12:41422937 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:41029134:A:G
                  Gene:
                  CNTN1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000012/3 (GnomAD_exomes)
                  G=0.000015/4 (TOPMED)
                  G=0.000016/2 (ExAC)
                  HGVS:
                  14.

                  rs780316987 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    12:41020412 (GRCh38)
                    12:41414214 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:41020411:T:C,NC_000012.12:41020411:T:G
                    Gene:
                    CNTN1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000008/1 (ExAC)
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.41020412T>C, NC_000012.12:g.41020412T>G, NC_000012.11:g.41414214T>C, NC_000012.11:g.41414214T>G, NG_012058.2:g.332857T>C, NG_012058.2:g.332857T>G, NM_001843.4:c.2495T>C, NM_001843.4:c.2495T>G, NM_001843.3:c.2495T>C, NM_001843.3:c.2495T>G, NM_175038.2:c.2462T>C, NM_175038.2:c.2462T>G, XM_011537926.3:c.2495T>C, XM_011537926.3:c.2495T>G, XM_005268651.2:c.2495T>C, XM_005268651.2:c.2495T>G, XM_005268651.1:c.2495T>C, XM_005268651.1:c.2495T>G, XM_011537927.2:c.2495T>C, XM_011537927.2:c.2495T>G, XM_006719241.2:c.2495T>C, XM_006719241.2:c.2495T>G, XR_002957290.1:n.3085T>C, XR_002957290.1:n.3085T>G, XR_002957289.1:n.2838T>C, XR_002957289.1:n.2838T>G, XR_002957288.1:n.2717T>C, XR_002957288.1:n.2717T>G, XR_002957291.1:n.2709T>C, XR_002957291.1:n.2709T>G, NP_001834.2:p.Val832Ala, NP_001834.2:p.Val832Gly, NP_778203.1:p.Val821Ala, NP_778203.1:p.Val821Gly, XP_011536228.1:p.Val832Ala, XP_011536228.1:p.Val832Gly, XP_005268708.1:p.Val832Ala, XP_005268708.1:p.Val832Gly, XP_011536229.1:p.Val832Ala, XP_011536229.1:p.Val832Gly, XP_006719304.1:p.Val832Ala, XP_006719304.1:p.Val832Gly
                    15.

                    rs780080017 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:41025269 (GRCh38)
                      12:41419071 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:41025268:C:T
                      Gene:
                      CNTN1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (GnomAD_exomes)
                      T=0.000016/2 (ExAC)
                      HGVS:
                      16.

                      rs779955161 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        12:40981004 (GRCh38)
                        12:41374806 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:40981003:A:C
                        Gene:
                        CNTN1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/1 (ExAC)
                        HGVS:
                        18.

                        rs779740020 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          12:41025178 (GRCh38)
                          12:41418980 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:41025177:A:G
                          Gene:
                          CNTN1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000066/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000008/2 (GnomAD_exomes)
                          G=0.000017/2 (ExAC)
                          G=0.000021/3 (GnomAD)
                          G=0.000223/1 (Estonian)
                          HGVS:
                          19.

                          rs779553909 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:41014266 (GRCh38)
                            12:41408068 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:41014265:G:A
                            Gene:
                            CNTN1 (Varview), LOC107984496 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000008/1 (ExAC)
                            HGVS:
                            20.

                            rs779551448 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              12:40944070 (GRCh38)
                              12:41337872 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:40944069:C:G,NC_000012.12:40944069:C:T
                              Gene:
                              CNTN1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              T=0.000008/1 (ExAC)
                              T=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.40944070C>G, NC_000012.12:g.40944070C>T, NC_000012.11:g.41337872C>G, NC_000012.11:g.41337872C>T, NG_012058.2:g.256515C>G, NG_012058.2:g.256515C>T, NM_001843.4:c.1583C>G, NM_001843.4:c.1583C>T, NM_001843.3:c.1583C>G, NM_001843.3:c.1583C>T, NM_175038.2:c.1550C>G, NM_175038.2:c.1550C>T, NM_001256063.2:c.1583C>G, NM_001256063.2:c.1583C>T, NM_001256063.1:c.1583C>G, NM_001256063.1:c.1583C>T, NM_001256064.2:c.1583C>G, NM_001256064.2:c.1583C>T, NM_001256064.1:c.1583C>G, NM_001256064.1:c.1583C>T, XM_011537926.3:c.1583C>G, XM_011537926.3:c.1583C>T, XM_005268651.2:c.1583C>G, XM_005268651.2:c.1583C>T, XM_005268651.1:c.1583C>G, XM_005268651.1:c.1583C>T, XM_011537927.2:c.1583C>G, XM_011537927.2:c.1583C>T, XM_006719241.2:c.1583C>G, XM_006719241.2:c.1583C>T, XM_017018827.2:c.1583C>G, XM_017018827.2:c.1583C>T, XM_017018826.2:c.1583C>G, XM_017018826.2:c.1583C>T, XR_002957290.1:n.2173C>G, XR_002957290.1:n.2173C>T, XR_002957289.1:n.1926C>G, XR_002957289.1:n.1926C>T, XR_002957288.1:n.1805C>G, XR_002957288.1:n.1805C>T, XR_002957291.1:n.1797C>G, XR_002957291.1:n.1797C>T, XM_024448843.1:c.1583C>G, XM_024448843.1:c.1583C>T, NP_001834.2:p.Ala528Gly, NP_001834.2:p.Ala528Val, NP_778203.1:p.Ala517Gly, NP_778203.1:p.Ala517Val, NP_001242992.1:p.Ala528Gly, NP_001242992.1:p.Ala528Val, NP_001242993.1:p.Ala528Gly, NP_001242993.1:p.Ala528Val, XP_011536228.1:p.Ala528Gly, XP_011536228.1:p.Ala528Val, XP_005268708.1:p.Ala528Gly, XP_005268708.1:p.Ala528Val, XP_011536229.1:p.Ala528Gly, XP_011536229.1:p.Ala528Val, XP_006719304.1:p.Ala528Gly, XP_006719304.1:p.Ala528Val, XP_016874316.1:p.Ala528Gly, XP_016874316.1:p.Ala528Val, XP_016874315.1:p.Ala528Gly, XP_016874315.1:p.Ala528Val, XP_024304611.1:p.Ala528Gly, XP_024304611.1:p.Ala528Val

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