Canonical Allele Identifier: CA411773605
Gene: CYP2D6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128346A>T , CM000684.2:g.42128346A>T GRCh38
NC_000022.10:g.42524348A>T , CM000684.1:g.42524348A>T GRCh37
NC_000022.9:g.40854292A>T NCBI36
NG_008376.3:g.6646T>A
NG_008376.4:g.7465T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.518T>A ENSP00000353241.6:p.Leu173Gln
ENST00000645361.2:c.671T>A MANE Select ENSP00000496150.1:p.Leu224Gln
ENST00000359033.4:c.518T>A ENSP00000351927.4:p.Leu173Gln
ENST00000360124.9:c.338T>A ENSP00000353241.5:p.Leu113Gln
ENST00000360608.9:c.671T>A ENSP00000353820.5:p.Leu224Gln
ENST00000389970.7:c.605T>A ENSP00000374620.4:p.Leu202Gln
ENST00000488442.1:n.1395T>A
NM_000106.5:c.671T>A NP_000097.3:p.Leu224Gln
NM_001025161.2:c.518T>A NP_001020332.2:p.Leu173Gln
XM_011529966.1:c.671T>A XP_011528268.1:p.Leu224Gln
XM_011529967.1:c.671T>A XP_011528269.1:p.Leu224Gln
XM_011529968.1:c.671T>A XP_011528270.1:p.Leu224Gln
XM_011529969.1:c.527T>A XP_011528271.1:p.Leu176Gln
XM_011529970.1:c.518T>A XP_011528272.1:p.Leu173Gln
XM_011529971.1:c.527T>A XP_011528273.1:p.Leu176Gln
XM_011529972.1:c.671T>A XP_011528274.1:p.Leu224Gln
NM_000106.6:c.671T>A MANE Select NP_000097.3:p.Leu224Gln
NM_001025161.3:c.518T>A NP_001020332.2:p.Leu173Gln