Canonical Allele Identifier: CA368050320
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520863G>T , CM000669.2:g.87520863G>T GRCh38
NC_000007.13:g.87150179G>T , CM000669.1:g.87150179G>T GRCh37
NC_000007.12:g.86988115G>T NCBI36
NG_011513.1:g.197386C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2699C>A ENSP00000265724.3:p.Ala900Glu
ENST00000622132.5:c.2699C>A MANE Select ENSP00000478255.1:p.Ala900Glu
ENST00000265724.7:c.2699C>A ENSP00000265724.3:p.Ala900Glu
ENST00000483831.1:n.257C>A
ENST00000488737.6:n.341C>A
ENST00000496821.5:n.327C>A
ENST00000543898.5:c.2507C>A ENSP00000444095.1:p.Ala836Glu
ENST00000622132.4:c.2699C>A ENSP00000478255.1:p.Ala900Glu
NM_000927.4:c.2699C>A NP_000918.2:p.Ala900Glu
NM_001348944.1:c.2699C>A NP_001335873.1:p.Ala900Glu
NM_001348945.1:c.2909C>A NP_001335874.1:p.Ala970Glu
NM_001348946.1:c.2699C>A NP_001335875.1:p.Ala900Glu
NM_001348946.2:c.2699C>A MANE Select NP_001335875.1:p.Ala900Glu
NM_000927.5:c.2699C>A NP_000918.2:p.Ala900Glu
NM_001348944.2:c.2699C>A NP_001335873.1:p.Ala900Glu
NM_001348945.2:c.2909C>A NP_001335874.1:p.Ala970Glu