Canonical Allele Identifier: CA368054794

Gene: ABCB1

Linked Data

• dbSNP Id: rs2117130496
• MyVariant Identifiers: chr7:g.87160702C>G (hg19) ; chr7:g.87531386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87531386C>G , CM000669.2:g.87531386C>G	GRCh38
NC_000007.13:g.87160702C>G , CM000669.1:g.87160702C>G	GRCh37
NC_000007.12:g.86998638C>G	NCBI36
NG_011513.1:g.186863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2593G>C	ENSP00000265724.3:p.Val865Leu
ENST00000622132.5:c.2593G>C MANE Select	ENSP00000478255.1:p.Val865Leu
ENST00000265724.7:c.2593G>C	ENSP00000265724.3:p.Val865Leu
ENST00000488737.6:n.235G>C
ENST00000496821.5:n.221G>C
ENST00000543898.5:c.2401G>C	ENSP00000444095.1:p.Val801Leu
ENST00000622132.4:c.2593G>C	ENSP00000478255.1:p.Val865Leu
NM_000927.4:c.2593G>C	NP_000918.2:p.Val865Leu
NM_001348944.1:c.2593G>C	NP_001335873.1:p.Val865Leu
NM_001348945.1:c.2803G>C	NP_001335874.1:p.Val935Leu
NM_001348946.1:c.2593G>C	NP_001335875.1:p.Val865Leu
NM_001348946.2:c.2593G>C MANE Select	NP_001335875.1:p.Val865Leu
NM_000927.5:c.2593G>C	NP_000918.2:p.Val865Leu
NM_001348944.2:c.2593G>C	NP_001335873.1:p.Val865Leu
NM_001348945.2:c.2803G>C	NP_001335874.1:p.Val935Leu