Canonical Allele Identifier: CA514800383

Gene: CYP2D6

Linked Data

• dbSNP Id: rs149528658
• MyVariant Identifiers: chr22:g.42523872C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127870C>G , CM000684.2:g.42127870C>G	GRCh38
NC_000022.10:g.42523872C>G , CM000684.1:g.42523872C>G	GRCh37
NC_000022.9:g.40853816C>G	NCBI36
NG_008376.3:g.7122G>C
NG_008376.4:g.7941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.755G>C	ENSP00000353241.6:n.755G>C
ENST00000645361.2:c.957G>C MANE Select	ENSP00000496150.1:p.Leu319=
ENST00000359033.4:c.804G>C	ENSP00000351927.4:p.Leu268=
ENST00000360124.9:c.575G>C	ENSP00000353241.5:n.575G>C
ENST00000360608.9:c.957G>C	ENSP00000353820.5:p.Leu319=
ENST00000389970.7:c.891G>C	ENSP00000374620.4:p.Leu297=
ENST00000488442.1:n.1681G>C
NM_000106.5:c.957G>C	NP_000097.3:p.Leu319=
NM_001025161.2:c.804G>C	NP_001020332.2:p.Leu268=
XM_011529966.1:c.957G>C	XP_011528268.1:p.Leu319=
XM_011529967.1:c.957G>C	XP_011528269.1:p.Leu319=
XM_011529968.1:c.957G>C	XP_011528270.1:p.Leu319=
XM_011529969.1:c.813G>C	XP_011528271.1:p.Leu271=
XM_011529970.1:c.804G>C	XP_011528272.1:p.Leu268=
XM_011529971.1:c.813G>C	XP_011528273.1:p.Leu271=
XM_011529972.1:c.844-236G>C	XP_011528274.1:n.844-236G>C
NM_000106.6:c.957G>C MANE Select	NP_000097.3:p.Leu319=
NM_001025161.3:c.804G>C	NP_001020332.2:p.Leu268=