Canonical Allele Identifier: CA368050339
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87520873-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520873C>A , CM000669.2:g.87520873C>A GRCh38
NC_000007.13:g.87150189C>A , CM000669.1:g.87150189C>A GRCh37
NC_000007.12:g.86988125C>A NCBI36
NG_011513.1:g.197376G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2689G>T ENSP00000265724.3:p.Ala897Ser
ENST00000622132.5:c.2689G>T MANE Select ENSP00000478255.1:p.Ala897Ser
ENST00000265724.7:c.2689G>T ENSP00000265724.3:p.Ala897Ser
ENST00000483831.1:n.247G>T
ENST00000488737.6:n.331G>T
ENST00000496821.5:n.317G>T
ENST00000543898.5:c.2497G>T ENSP00000444095.1:p.Ala833Ser
ENST00000622132.4:c.2689G>T ENSP00000478255.1:p.Ala897Ser
NM_000927.4:c.2689G>T NP_000918.2:p.Ala897Ser
NM_001348944.1:c.2689G>T NP_001335873.1:p.Ala897Ser
NM_001348945.1:c.2899G>T NP_001335874.1:p.Ala967Ser
NM_001348946.1:c.2689G>T NP_001335875.1:p.Ala897Ser
NM_001348946.2:c.2689G>T MANE Select NP_001335875.1:p.Ala897Ser
NM_000927.5:c.2689G>T NP_000918.2:p.Ala897Ser
NM_001348944.2:c.2689G>T NP_001335873.1:p.Ala897Ser
NM_001348945.2:c.2899G>T NP_001335874.1:p.Ala967Ser