Canonical Allele Identifier: CA368090628
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87566229C>A , CM000669.2:g.87566229C>A GRCh38
NC_000007.13:g.87195545C>A , CM000669.1:g.87195545C>A GRCh37
NC_000007.12:g.87033481C>A NCBI36
NG_011513.1:g.152020G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.543G>T ENSP00000265724.3:p.Lys181Asn
ENST00000622132.5:c.543G>T MANE Select ENSP00000478255.1:p.Lys181Asn
ENST00000265724.7:c.543G>T ENSP00000265724.3:p.Lys181Asn
ENST00000543898.5:c.351G>T ENSP00000444095.1:p.Lys117Asn
ENST00000622132.4:c.543G>T ENSP00000478255.1:p.Lys181Asn
NM_000927.4:c.543G>T NP_000918.2:p.Lys181Asn
NM_001348944.1:c.543G>T NP_001335873.1:p.Lys181Asn
NM_001348945.1:c.753G>T NP_001335874.1:p.Lys251Asn
NM_001348946.1:c.543G>T NP_001335875.1:p.Lys181Asn
NM_001348946.2:c.543G>T MANE Select NP_001335875.1:p.Lys181Asn
NM_000927.5:c.543G>T NP_000918.2:p.Lys181Asn
NM_001348944.2:c.543G>T NP_001335873.1:p.Lys181Asn
NM_001348945.2:c.753G>T NP_001335874.1:p.Lys251Asn