Canonical Allele Identifier: CA368050344
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520876T>A , CM000669.2:g.87520876T>A GRCh38
NC_000007.13:g.87150192T>A , CM000669.1:g.87150192T>A GRCh37
NC_000007.12:g.86988128T>A NCBI36
NG_011513.1:g.197373A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2686A>T ENSP00000265724.3:p.Ile896Phe
ENST00000622132.5:c.2686A>T MANE Select ENSP00000478255.1:p.Ile896Phe
ENST00000265724.7:c.2686A>T ENSP00000265724.3:p.Ile896Phe
ENST00000483831.1:n.244A>T
ENST00000488737.6:n.328A>T
ENST00000496821.5:n.314A>T
ENST00000543898.5:c.2494A>T ENSP00000444095.1:p.Ile832Phe
ENST00000622132.4:c.2686A>T ENSP00000478255.1:p.Ile896Phe
NM_000927.4:c.2686A>T NP_000918.2:p.Ile896Phe
NM_001348944.1:c.2686A>T NP_001335873.1:p.Ile896Phe
NM_001348945.1:c.2896A>T NP_001335874.1:p.Ile966Phe
NM_001348946.1:c.2686A>T NP_001335875.1:p.Ile896Phe
NM_001348946.2:c.2686A>T MANE Select NP_001335875.1:p.Ile896Phe
NM_000927.5:c.2686A>T NP_000918.2:p.Ile896Phe
NM_001348944.2:c.2686A>T NP_001335873.1:p.Ile896Phe
NM_001348945.2:c.2896A>T NP_001335874.1:p.Ile966Phe