Canonical Allele Identifier: CA514800596

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42126736-G-C
• MyVariant Identifiers: chr22:g.42522738G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126736G>C , CM000684.2:g.42126736G>C	GRCh38
NC_000022.10:g.42522738G>C , CM000684.1:g.42522738G>C	GRCh37
NC_000022.9:g.40852682G>C	NCBI36
NG_008376.3:g.8256C>G
NG_008376.4:g.9075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.1130C>G	ENSP00000353241.6:n.1130C>G
ENST00000645361.2:c.1332C>G MANE Select	ENSP00000496150.1:p.Leu444=
ENST00000359033.4:c.1179C>G	ENSP00000351927.4:p.Leu393=
ENST00000360124.9:c.950C>G	ENSP00000353241.5:n.950C>G
ENST00000360608.9:c.1332C>G	ENSP00000353820.5:p.Leu444=
ENST00000389970.7:c.1323C>G	ENSP00000374620.4:p.Leu441=
ENST00000488442.1:n.2056C>G
NM_000106.5:c.1332C>G	NP_000097.3:p.Leu444=
NM_001025161.2:c.1179C>G	NP_001020332.2:p.Leu393=
XM_011529966.1:c.1332C>G	XP_011528268.1:p.Leu444=
XM_011529967.1:c.1332C>G	XP_011528269.1:p.Leu444=
XM_011529968.1:c.1332C>G	XP_011528270.1:p.Leu444=
XM_011529969.1:c.1188C>G	XP_011528271.1:p.Leu396=
XM_011529970.1:c.1179C>G	XP_011528272.1:p.Leu393=
XM_011529971.1:c.1188C>G	XP_011528273.1:p.Leu396=
NM_000106.6:c.1332C>G MANE Select	NP_000097.3:p.Leu444=
NM_001025161.3:c.1179C>G	NP_001020332.2:p.Leu393=