Nomenclature for selected CYP2D6 alleles

Common allele nameAlternative names / Major SNPHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2D6*4 1846G>A NM_000106.5:c.506-1G>A Not applicable - variant occurs in a non-coding region rs3892097
CYP2D6*5 Not applicable - variant results in a whole gene deletion
CYP2D6*6 1707 del T Trp152Gly NM_000106.5:c.454delT NP_000097.3:p.Trp152Glyfs rs5030655
CYP2D6*10 100C>T Pro34Ser NM_000106.5:c.100C>T NP_000097.3:p.Pro34Ser rs1065852
CYP2D6*17 Includes at least two functional variants*:
1023C>T (Thr107Ile)
2850C>T (Cys296Arg)
NM_000106.5:c.320C>T
NM_000106.5:c.886T>C
NP_000097.3:p.Thr107Ile
NP_000097.3:p.Cys296Arg
rs28371706 rs16947
CYP2D6*41 2988G>ANM_000106.5:c.985+39G>ANot applicable – variant occurs in a non-coding region rs28371725

SNP= Single Nucleotide Polymorphism
*In the literature, 1023C>T is also referred to as 1111C>T, and 2850C>T is also referred to 2938C>T.

From: Risperidone Therapy and CYP2D6 Genotype

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Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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