Canonical Allele Identifier: CA368062796
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550248G>T , CM000669.2:g.87550248G>T GRCh38
NC_000007.13:g.87179564G>T , CM000669.1:g.87179564G>T GRCh37
NC_000007.12:g.87017500G>T NCBI36
NG_011513.1:g.168001C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1273C>A ENSP00000265724.3:p.Leu425Met
ENST00000622132.5:c.1273C>A MANE Select ENSP00000478255.1:p.Leu425Met
ENST00000265724.7:c.1273C>A ENSP00000265724.3:p.Leu425Met
ENST00000543898.5:c.1081C>A ENSP00000444095.1:p.Leu361Met
ENST00000622132.4:c.1273C>A ENSP00000478255.1:p.Leu425Met
NM_000927.4:c.1273C>A NP_000918.2:p.Leu425Met
NM_001348944.1:c.1273C>A NP_001335873.1:p.Leu425Met
NM_001348945.1:c.1483C>A NP_001335874.1:p.Leu495Met
NM_001348946.1:c.1273C>A NP_001335875.1:p.Leu425Met
NM_001348946.2:c.1273C>A MANE Select NP_001335875.1:p.Leu425Met
NM_000927.5:c.1273C>A NP_000918.2:p.Leu425Met
NM_001348944.2:c.1273C>A NP_001335873.1:p.Leu425Met
NM_001348945.2:c.1483C>A NP_001335874.1:p.Leu495Met