Canonical Allele Identifier: CA368062367
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550008A>T , CM000669.2:g.87550008A>T GRCh38
NC_000007.13:g.87179324A>T , CM000669.1:g.87179324A>T GRCh37
NC_000007.12:g.87017260A>T NCBI36
NG_011513.1:g.168241T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1397T>A ENSP00000265724.3:p.Leu466Gln
ENST00000622132.5:c.1397T>A MANE Select ENSP00000478255.1:p.Leu466Gln
ENST00000265724.7:c.1397T>A ENSP00000265724.3:p.Leu466Gln
ENST00000482527.1:n.151T>A
ENST00000543898.5:c.1205T>A ENSP00000444095.1:p.Leu402Gln
ENST00000622132.4:c.1397T>A ENSP00000478255.1:p.Leu466Gln
NM_000927.4:c.1397T>A NP_000918.2:p.Leu466Gln
NM_001348944.1:c.1397T>A NP_001335873.1:p.Leu466Gln
NM_001348945.1:c.1607T>A NP_001335874.1:p.Leu536Gln
NM_001348946.1:c.1397T>A NP_001335875.1:p.Leu466Gln
NM_001348946.2:c.1397T>A MANE Select NP_001335875.1:p.Leu466Gln
NM_000927.5:c.1397T>A NP_000918.2:p.Leu466Gln
NM_001348944.2:c.1397T>A NP_001335873.1:p.Leu466Gln
NM_001348945.2:c.1607T>A NP_001335874.1:p.Leu536Gln