Canonical Allele Identifier: CA368090398

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87195441A>G (hg19) ; chr7:g.87566125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87566125A>G , CM000669.2:g.87566125A>G	GRCh38
NC_000007.13:g.87195441A>G , CM000669.1:g.87195441A>G	GRCh37
NC_000007.12:g.87033377A>G	NCBI36
NG_011513.1:g.152124T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.647T>C	ENSP00000265724.3:p.Leu216Pro
ENST00000622132.5:c.647T>C MANE Select	ENSP00000478255.1:p.Leu216Pro
ENST00000265724.7:c.647T>C	ENSP00000265724.3:p.Leu216Pro
ENST00000543898.5:c.455T>C	ENSP00000444095.1:p.Leu152Pro
ENST00000622132.4:c.647T>C	ENSP00000478255.1:p.Leu216Pro
NM_000927.4:c.647T>C	NP_000918.2:p.Leu216Pro
NM_001348944.1:c.647T>C	NP_001335873.1:p.Leu216Pro
NM_001348945.1:c.857T>C	NP_001335874.1:p.Leu286Pro
NM_001348946.1:c.647T>C	NP_001335875.1:p.Leu216Pro
NM_001348946.2:c.647T>C MANE Select	NP_001335875.1:p.Leu216Pro
NM_000927.5:c.647T>C	NP_000918.2:p.Leu216Pro
NM_001348944.2:c.647T>C	NP_001335873.1:p.Leu216Pro
NM_001348945.2:c.857T>C	NP_001335874.1:p.Leu286Pro