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Links from Protein

Items: 1 to 20 of 283

1.

rs781710349 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:40971449 (GRCh38)
    12:41365251 (GRCh37)
    Canonical SPDI:
    NC_000012.12:40971448:G:A
    Gene:
    CNTN1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000009/2 (GnomAD_exomes)
    A=0.00001/1 (ExAC)
    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:
      5.

      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.

        rs780577782 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:40971481 (GRCh38)
          12:41365283 (GRCh37)
          Canonical SPDI:
          NC_000012.12:40971480:C:T
          Gene:
          CNTN1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          T=0.000009/1 (ExAC)
          HGVS:
          11.

          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
            13.
            14.

            rs779041716 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:40971486 (GRCh38)
              12:41365288 (GRCh37)
              Canonical SPDI:
              NC_000012.12:40971485:C:T
              Gene:
              CNTN1 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000026/6 (GnomAD_exomes)
              T=0.000056/6 (ExAC)
              HGVS:
              15.

              rs778897121 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                12:40939400 (GRCh38)
                12:41333202 (GRCh37)
                Canonical SPDI:
                NC_000012.12:40939399:G:A,NC_000012.12:40939399:G: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:
                T=0./0 (ALFA)
                A=0./0 (GnomAD)
                A=0.0001/25 (GnomAD_exomes)
                A=0.000141/17 (ExAC)
                HGVS:
                NC_000012.12:g.40939400G>A, NC_000012.12:g.40939400G>T, NC_000012.11:g.41333202G>A, NC_000012.11:g.41333202G>T, NG_012058.2:g.251845G>A, NG_012058.2:g.251845G>T, NM_001843.4:c.1294G>A, NM_001843.4:c.1294G>T, NM_001843.3:c.1294G>A, NM_001843.3:c.1294G>T, NM_175038.2:c.1261G>A, NM_175038.2:c.1261G>T, NM_001256063.2:c.1294G>A, NM_001256063.2:c.1294G>T, NM_001256063.1:c.1294G>A, NM_001256063.1:c.1294G>T, NM_001256064.2:c.1294G>A, NM_001256064.2:c.1294G>T, NM_001256064.1:c.1294G>A, NM_001256064.1:c.1294G>T, XM_011537926.3:c.1294G>A, XM_011537926.3:c.1294G>T, XM_005268651.2:c.1294G>A, XM_005268651.2:c.1294G>T, XM_005268651.1:c.1294G>A, XM_005268651.1:c.1294G>T, XM_011537927.2:c.1294G>A, XM_011537927.2:c.1294G>T, XM_006719241.2:c.1294G>A, XM_006719241.2:c.1294G>T, XM_017018827.2:c.1294G>A, XM_017018827.2:c.1294G>T, XM_017018826.2:c.1294G>A, XM_017018826.2:c.1294G>T, XR_002957290.1:n.1884G>A, XR_002957290.1:n.1884G>T, XR_002957289.1:n.1637G>A, XR_002957289.1:n.1637G>T, XR_002957288.1:n.1516G>A, XR_002957288.1:n.1516G>T, XR_002957291.1:n.1508G>A, XR_002957291.1:n.1508G>T, XM_024448843.1:c.1294G>A, XM_024448843.1:c.1294G>T, NP_001834.2:p.Val432Met, NP_001834.2:p.Val432Leu, NP_778203.1:p.Val421Met, NP_778203.1:p.Val421Leu, NP_001242992.1:p.Val432Met, NP_001242992.1:p.Val432Leu, NP_001242993.1:p.Val432Met, NP_001242993.1:p.Val432Leu, XP_011536228.1:p.Val432Met, XP_011536228.1:p.Val432Leu, XP_005268708.1:p.Val432Met, XP_005268708.1:p.Val432Leu, XP_011536229.1:p.Val432Met, XP_011536229.1:p.Val432Leu, XP_006719304.1:p.Val432Met, XP_006719304.1:p.Val432Leu, XP_016874316.1:p.Val432Met, XP_016874316.1:p.Val432Leu, XP_016874315.1:p.Val432Met, XP_016874315.1:p.Val432Leu, XP_024304611.1:p.Val432Met, XP_024304611.1:p.Val432Leu
                16.

                rs778411720 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:40933706 (GRCh38)
                  12:41327508 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:40933705:G:A
                  Gene:
                  CNTN1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000029/4 (GnomAD)
                  A=0.000042/11 (TOPMED)
                  A=0.000099/12 (ExAC)
                  A=0.0001/25 (GnomAD_exomes)
                  A=0.000298/5 (TOMMO)
                  HGVS:
                  17.
                  20.

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