Canonical Allele Identifier: CA411769825

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42126615-C-A
• MyVariant Identifiers: chr22:g.42522617C>A (hg19) ; chr22:g.42126615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126615C>A , CM000684.2:g.42126615C>A	GRCh38
NC_000022.10:g.42522617C>A , CM000684.1:g.42522617C>A	GRCh37
NC_000022.9:g.40852561C>A	NCBI36
NG_008376.3:g.8377G>T
NG_008376.4:g.9196G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1251G>T	ENSP00000353241.6:n.1251G>T
ENST00000645361.2:c.1453G>T MANE Select	ENSP00000496150.1:p.Val485Leu
ENST00000359033.4:c.1300G>T	ENSP00000351927.4:p.Val434Leu
ENST00000360124.9:c.1071G>T	ENSP00000353241.5:n.1071G>T
ENST00000360608.9:c.1453G>T	ENSP00000353820.5:p.Val485Leu
ENST00000389970.7:c.1444G>T	ENSP00000374620.4:p.Val482Leu
ENST00000488442.1:n.2177G>T
NM_000106.5:c.1453G>T	NP_000097.3:p.Val485Leu
NM_001025161.2:c.1300G>T	NP_001020332.2:p.Val434Leu
XM_011529966.1:c.1452+1G>T	XP_011528268.1:n.1452+1G>T
XM_011529967.1:c.1452+1G>T	XP_011528269.1:n.1452+1G>T
XM_011529968.1:c.1452+1G>T	XP_011528270.1:n.1452+1G>T
XM_011529969.1:c.1308+1G>T	XP_011528271.1:n.1308+1G>T
XM_011529970.1:c.1299+1G>T	XP_011528272.1:n.1299+1G>T
XM_011529971.1:c.1309G>T	XP_011528273.1:p.Val437Leu
NM_000106.6:c.1453G>T MANE Select	NP_000097.3:p.Val485Leu
NM_001025161.3:c.1300G>T	NP_001020332.2:p.Val434Leu