Canonical Allele Identifier: CA162474189
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs9282564
gnomAD v3: 7-87600124-T-A
gnomAD v4: 7-87600124-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600124T>A , CM000669.2:g.87600124T>A GRCh38
NC_000007.13:g.87229440T>A , CM000669.1:g.87229440T>A GRCh37
NC_000007.12:g.87067376T>A NCBI36
NG_011513.1:g.118125A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.61A>T ENSP00000265724.3:p.Asn21Tyr
ENST00000622132.5:c.61A>T MANE Select ENSP00000478255.1:p.Asn21Tyr
ENST00000265724.7:c.61A>T ENSP00000265724.3:p.Asn21Tyr
ENST00000416177.1:c.61A>T ENSP00000399419.1:p.Asn21Tyr
ENST00000543898.5:c.61A>T ENSP00000444095.1:p.Asn21Tyr
ENST00000622132.4:c.61A>T ENSP00000478255.1:p.Asn21Tyr
NM_000927.4:c.61A>T NP_000918.2:p.Asn21Tyr
NM_001348944.1:c.61A>T NP_001335873.1:p.Asn21Tyr
NM_001348945.1:c.271A>T NP_001335874.1:p.Asn91Tyr
NM_001348946.1:c.61A>T NP_001335875.1:p.Asn21Tyr
NM_001348946.2:c.61A>T MANE Select NP_001335875.1:p.Asn21Tyr
NM_000927.5:c.61A>T NP_000918.2:p.Asn21Tyr
NM_001348944.2:c.61A>T NP_001335873.1:p.Asn21Tyr
NM_001348945.2:c.271A>T NP_001335874.1:p.Asn91Tyr