Canonical Allele Identifier: CA368090399
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87566125A>T , CM000669.2:g.87566125A>T GRCh38
NC_000007.13:g.87195441A>T , CM000669.1:g.87195441A>T GRCh37
NC_000007.12:g.87033377A>T NCBI36
NG_011513.1:g.152124T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.647T>A ENSP00000265724.3:p.Leu216His
ENST00000622132.5:c.647T>A MANE Select ENSP00000478255.1:p.Leu216His
ENST00000265724.7:c.647T>A ENSP00000265724.3:p.Leu216His
ENST00000543898.5:c.455T>A ENSP00000444095.1:p.Leu152His
ENST00000622132.4:c.647T>A ENSP00000478255.1:p.Leu216His
NM_000927.4:c.647T>A NP_000918.2:p.Leu216His
NM_001348944.1:c.647T>A NP_001335873.1:p.Leu216His
NM_001348945.1:c.857T>A NP_001335874.1:p.Leu286His
NM_001348946.1:c.647T>A NP_001335875.1:p.Leu216His
NM_001348946.2:c.647T>A MANE Select NP_001335875.1:p.Leu216His
NM_000927.5:c.647T>A NP_000918.2:p.Leu216His
NM_001348944.2:c.647T>A NP_001335873.1:p.Leu216His
NM_001348945.2:c.857T>A NP_001335874.1:p.Leu286His