Canonical Allele Identifier: CA368062267

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87549961-T-G
• MyVariant Identifiers: chr7:g.87179277T>G (hg19) ; chr7:g.87549961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87549961T>G , CM000669.2:g.87549961T>G	GRCh38
NC_000007.13:g.87179277T>G , CM000669.1:g.87179277T>G	GRCh37
NC_000007.12:g.87017213T>G	NCBI36
NG_011513.1:g.168288A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1444A>C	ENSP00000265724.3:p.Thr482Pro
ENST00000622132.5:c.1444A>C MANE Select	ENSP00000478255.1:p.Thr482Pro
ENST00000265724.7:c.1444A>C	ENSP00000265724.3:p.Thr482Pro
ENST00000482527.1:n.198A>C
ENST00000543898.5:c.1252A>C	ENSP00000444095.1:p.Thr418Pro
ENST00000622132.4:c.1444A>C	ENSP00000478255.1:p.Thr482Pro
NM_000927.4:c.1444A>C	NP_000918.2:p.Thr482Pro
NM_001348944.1:c.1444A>C	NP_001335873.1:p.Thr482Pro
NM_001348945.1:c.1654A>C	NP_001335874.1:p.Thr552Pro
NM_001348946.1:c.1444A>C	NP_001335875.1:p.Thr482Pro
NM_001348946.2:c.1444A>C MANE Select	NP_001335875.1:p.Thr482Pro
NM_000927.5:c.1444A>C	NP_000918.2:p.Thr482Pro
NM_001348944.2:c.1444A>C	NP_001335873.1:p.Thr482Pro
NM_001348945.2:c.1654A>C	NP_001335874.1:p.Thr552Pro