Canonical Allele Identifier: CA368093294
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs35810889
gnomAD v2: 7-87214848-A-T
gnomAD v3: 7-87585532-A-T
gnomAD v4: 7-87585532-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87585532A>T , CM000669.2:g.87585532A>T GRCh38
NC_000007.13:g.87214848A>T , CM000669.1:g.87214848A>T GRCh37
NC_000007.12:g.87052784A>T NCBI36
NG_011513.1:g.132717T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.266T>A ENSP00000265724.3:p.Met89Lys
ENST00000622132.5:c.266T>A MANE Select ENSP00000478255.1:p.Met89Lys
ENST00000265724.7:c.266T>A ENSP00000265724.3:p.Met89Lys
ENST00000543898.5:c.266T>A ENSP00000444095.1:p.Met89Lys
ENST00000622132.4:c.266T>A ENSP00000478255.1:p.Met89Lys
NM_000927.4:c.266T>A NP_000918.2:p.Met89Lys
NM_001348944.1:c.266T>A NP_001335873.1:p.Met89Lys
NM_001348945.1:c.476T>A NP_001335874.1:p.Met159Lys
NM_001348946.1:c.266T>A NP_001335875.1:p.Met89Lys
NM_001348946.2:c.266T>A MANE Select NP_001335875.1:p.Met89Lys
NM_000927.5:c.266T>A NP_000918.2:p.Met89Lys
NM_001348944.2:c.266T>A NP_001335873.1:p.Met89Lys
NM_001348945.2:c.476T>A NP_001335874.1:p.Met159Lys