Canonical Allele Identifier: CA2406578564
Community Standard Title: NM_000106.6(CYP2D6):c.1001A= (p.Glu334=)
Gene: CYP2D6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127619T= , CM000684.2:g.42127619T= GRCh38
NC_000022.10:g.42523621T= , CM000684.1:g.42523621T= GRCh37
NC_000022.9:g.40853565T= NCBI36
NG_008376.3:g.7373A=
NG_008376.4:g.8192A=

Transcript Alleles

HGVS Amino-acid Change
NM_000106.6:c.1001A= MANE Select NP_000097.3:p.Glu334=
ENST00000645361.2:c.1001A= MANE Select ENSP00000496150.1:p.Glu334=
NM_000106.5:c.1001A= NP_000097.3:p.Glu334=
NM_001025161.2:c.848A= NP_001020332.2:p.Glu283=
NM_001025161.3:c.848A= NP_001020332.2:p.Glu283=
ENST00000359033.4:c.848A= ENSP00000351927.4:p.Glu283=
ENST00000360124.10:c.799A= ENSP00000353241.6:n.799A=
ENST00000360124.9:c.619A= ENSP00000353241.5:n.619A=
ENST00000360608.9:c.1001A= ENSP00000353820.5:p.Glu334=
ENST00000389970.7:c.992A= ENSP00000374620.4:p.Glu331=
ENST00000488442.1:n.1725A=
XM_011529966.1:c.1001A= XP_011528268.1:p.Glu334=
XM_011529967.1:c.1001A= XP_011528269.1:p.Glu334=
XM_011529968.1:c.1001A= XP_011528270.1:p.Glu334=
XM_011529969.1:c.857A= XP_011528271.1:p.Glu286=
XM_011529970.1:c.848A= XP_011528272.1:p.Glu283=
XM_011529971.1:c.857A= XP_011528273.1:p.Glu286=
XM_011529972.1:c.859A= XP_011528274.1:p.Arg287=