Canonical Allele Identifier: CA368063317
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550566C>A , CM000669.2:g.87550566C>A GRCh38
NC_000007.13:g.87179882C>A , CM000669.1:g.87179882C>A GRCh37
NC_000007.12:g.87017818C>A NCBI36
NG_011513.1:g.167683G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1126G>T ENSP00000265724.3:p.Asp376Tyr
ENST00000622132.5:c.1126G>T MANE Select ENSP00000478255.1:p.Asp376Tyr
ENST00000265724.7:c.1126G>T ENSP00000265724.3:p.Asp376Tyr
ENST00000543898.5:c.934G>T ENSP00000444095.1:p.Asp312Tyr
ENST00000622132.4:c.1126G>T ENSP00000478255.1:p.Asp376Tyr
NM_000927.4:c.1126G>T NP_000918.2:p.Asp376Tyr
NM_001348944.1:c.1126G>T NP_001335873.1:p.Asp376Tyr
NM_001348945.1:c.1336G>T NP_001335874.1:p.Asp446Tyr
NM_001348946.1:c.1126G>T NP_001335875.1:p.Asp376Tyr
NM_001348946.2:c.1126G>T MANE Select NP_001335875.1:p.Asp376Tyr
NM_000927.5:c.1126G>T NP_000918.2:p.Asp376Tyr
NM_001348944.2:c.1126G>T NP_001335873.1:p.Asp376Tyr
NM_001348945.2:c.1336G>T NP_001335874.1:p.Asp446Tyr