Canonical Allele Identifier: CA368062462

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87179369A>G (hg19) ; chr7:g.87550053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550053A>G , CM000669.2:g.87550053A>G	GRCh38
NC_000007.13:g.87179369A>G , CM000669.1:g.87179369A>G	GRCh37
NC_000007.12:g.87017305A>G	NCBI36
NG_011513.1:g.168196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1352T>C	ENSP00000265724.3:p.Val451Ala
ENST00000622132.5:c.1352T>C MANE Select	ENSP00000478255.1:p.Val451Ala
ENST00000265724.7:c.1352T>C	ENSP00000265724.3:p.Val451Ala
ENST00000482527.1:n.106T>C
ENST00000543898.5:c.1160T>C	ENSP00000444095.1:p.Val387Ala
ENST00000622132.4:c.1352T>C	ENSP00000478255.1:p.Val451Ala
NM_000927.4:c.1352T>C	NP_000918.2:p.Val451Ala
NM_001348944.1:c.1352T>C	NP_001335873.1:p.Val451Ala
NM_001348945.1:c.1562T>C	NP_001335874.1:p.Val521Ala
NM_001348946.1:c.1352T>C	NP_001335875.1:p.Val451Ala
NM_001348946.2:c.1352T>C MANE Select	NP_001335875.1:p.Val451Ala
NM_000927.5:c.1352T>C	NP_000918.2:p.Val451Ala
NM_001348944.2:c.1352T>C	NP_001335873.1:p.Val451Ala
NM_001348945.2:c.1562T>C	NP_001335874.1:p.Val521Ala