Canonical Allele Identifier: CA2528499056
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87583823C>T , CM000669.2:g.87583823C>T GRCh38
NC_000007.13:g.87213139C>T , CM000669.1:g.87213139C>T GRCh37
NC_000007.12:g.87051075C>T NCBI36
NG_011513.1:g.134426G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.286+1689G>A ENSP00000265724.3:n.286+1689G>A
ENST00000622132.5:c.286+1689G>A MANE Select ENSP00000478255.1:n.286+1689G>A
ENST00000265724.7:c.286+1689G>A ENSP00000265724.3:n.286+1689G>A
ENST00000543898.5:c.286+1689G>A ENSP00000444095.1:n.286+1689G>A
ENST00000622132.4:c.286+1689G>A ENSP00000478255.1:n.286+1689G>A
NM_000927.4:c.286+1689G>A NP_000918.2:n.286+1689G>A
NM_001348944.1:c.286+1689G>A NP_001335873.1:n.286+1689G>A
NM_001348945.1:c.496+1689G>A NP_001335874.1:n.496+1689G>A
NM_001348946.1:c.286+1689G>A NP_001335875.1:n.286+1689G>A
NM_001348946.2:c.286+1689G>A MANE Select NP_001335875.1:n.286+1689G>A
NM_000927.5:c.286+1689G>A NP_000918.2:n.286+1689G>A
NM_001348944.2:c.286+1689G>A NP_001335873.1:n.286+1689G>A
NM_001348945.2:c.496+1689G>A NP_001335874.1:n.496+1689G>A