Canonical Allele Identifier: CA411773515
Gene: CYP2D6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128295A>T , CM000684.2:g.42128295A>T GRCh38
NC_000022.10:g.42524297A>T , CM000684.1:g.42524297A>T GRCh37
NC_000022.9:g.40854241A>T NCBI36
NG_008376.3:g.6697T>A
NG_008376.4:g.7516T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.569T>A ENSP00000353241.6:p.Leu190Gln
ENST00000645361.2:c.722T>A MANE Select ENSP00000496150.1:p.Leu241Gln
ENST00000359033.4:c.569T>A ENSP00000351927.4:p.Leu190Gln
ENST00000360124.9:c.389T>A ENSP00000353241.5:p.Leu130Gln
ENST00000360608.9:c.722T>A ENSP00000353820.5:p.Leu241Gln
ENST00000389970.7:c.656T>A ENSP00000374620.4:p.Leu219Gln
ENST00000488442.1:n.1446T>A
NM_000106.5:c.722T>A NP_000097.3:p.Leu241Gln
NM_001025161.2:c.569T>A NP_001020332.2:p.Leu190Gln
XM_011529966.1:c.722T>A XP_011528268.1:p.Leu241Gln
XM_011529967.1:c.722T>A XP_011528269.1:p.Leu241Gln
XM_011529968.1:c.722T>A XP_011528270.1:p.Leu241Gln
XM_011529969.1:c.578T>A XP_011528271.1:p.Leu193Gln
XM_011529970.1:c.569T>A XP_011528272.1:p.Leu190Gln
XM_011529971.1:c.578T>A XP_011528273.1:p.Leu193Gln
XM_011529972.1:c.722T>A XP_011528274.1:p.Leu241Gln
NM_000106.6:c.722T>A MANE Select NP_000097.3:p.Leu241Gln
NM_001025161.3:c.569T>A NP_001020332.2:p.Leu190Gln