Canonical Allele Identifier: CA368050197
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520828G>T , CM000669.2:g.87520828G>T GRCh38
NC_000007.13:g.87150144G>T , CM000669.1:g.87150144G>T GRCh37
NC_000007.12:g.86988080G>T NCBI36
NG_011513.1:g.197421C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2734C>A ENSP00000265724.3:p.Gln912Lys
ENST00000622132.5:c.2734C>A MANE Select ENSP00000478255.1:p.Gln912Lys
ENST00000265724.7:c.2734C>A ENSP00000265724.3:p.Gln912Lys
ENST00000483831.1:n.292C>A
ENST00000488737.6:n.376C>A
ENST00000496821.5:n.362C>A
ENST00000543898.5:c.2542C>A ENSP00000444095.1:p.Gln848Lys
ENST00000622132.4:c.2734C>A ENSP00000478255.1:p.Gln912Lys
NM_000927.4:c.2734C>A NP_000918.2:p.Gln912Lys
NM_001348944.1:c.2734C>A NP_001335873.1:p.Gln912Lys
NM_001348945.1:c.2944C>A NP_001335874.1:p.Gln982Lys
NM_001348946.1:c.2734C>A NP_001335875.1:p.Gln912Lys
NM_001348946.2:c.2734C>A MANE Select NP_001335875.1:p.Gln912Lys
NM_000927.5:c.2734C>A NP_000918.2:p.Gln912Lys
NM_001348944.2:c.2734C>A NP_001335873.1:p.Gln912Lys
NM_001348945.2:c.2944C>A NP_001335874.1:p.Gln982Lys