Canonical Allele Identifier: CA368062313

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87179298G>C (hg19) ; chr7:g.87549982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87549982G>C , CM000669.2:g.87549982G>C	GRCh38
NC_000007.13:g.87179298G>C , CM000669.1:g.87179298G>C	GRCh37
NC_000007.12:g.87017234G>C	NCBI36
NG_011513.1:g.168267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1423C>G	ENSP00000265724.3:p.Gln475Glu
ENST00000622132.5:c.1423C>G MANE Select	ENSP00000478255.1:p.Gln475Glu
ENST00000265724.7:c.1423C>G	ENSP00000265724.3:p.Gln475Glu
ENST00000482527.1:n.177C>G
ENST00000543898.5:c.1231C>G	ENSP00000444095.1:p.Gln411Glu
ENST00000622132.4:c.1423C>G	ENSP00000478255.1:p.Gln475Glu
NM_000927.4:c.1423C>G	NP_000918.2:p.Gln475Glu
NM_001348944.1:c.1423C>G	NP_001335873.1:p.Gln475Glu
NM_001348945.1:c.1633C>G	NP_001335874.1:p.Gln545Glu
NM_001348946.1:c.1423C>G	NP_001335875.1:p.Gln475Glu
NM_001348946.2:c.1423C>G MANE Select	NP_001335875.1:p.Gln475Glu
NM_000927.5:c.1423C>G	NP_000918.2:p.Gln475Glu
NM_001348944.2:c.1423C>G	NP_001335873.1:p.Gln475Glu
NM_001348945.2:c.1633C>G	NP_001335874.1:p.Gln545Glu