Canonical Allele Identifier: CA162110912

Gene: ABCB1

Linked Data

• dbSNP Id: rs1000911090
• gnomAD v3: 7-87531397-A-G
• gnomAD v4: 7-87531397-A-G
• MyVariant Identifiers: chr7:g.87160713A>G (hg19) ; chr7:g.87531397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87531397A>G , CM000669.2:g.87531397A>G	GRCh38
NC_000007.13:g.87160713A>G , CM000669.1:g.87160713A>G	GRCh37
NC_000007.12:g.86998649A>G	NCBI36
NG_011513.1:g.186852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2582T>C	ENSP00000265724.3:p.Leu861Pro
ENST00000622132.5:c.2582T>C MANE Select	ENSP00000478255.1:p.Leu861Pro
ENST00000265724.7:c.2582T>C	ENSP00000265724.3:p.Leu861Pro
ENST00000488737.6:n.224T>C
ENST00000496821.5:n.210T>C
ENST00000543898.5:c.2390T>C	ENSP00000444095.1:p.Leu797Pro
ENST00000622132.4:c.2582T>C	ENSP00000478255.1:p.Leu861Pro
NM_000927.4:c.2582T>C	NP_000918.2:p.Leu861Pro
NM_001348944.1:c.2582T>C	NP_001335873.1:p.Leu861Pro
NM_001348945.1:c.2792T>C	NP_001335874.1:p.Leu931Pro
NM_001348946.1:c.2582T>C	NP_001335875.1:p.Leu861Pro
NM_001348946.2:c.2582T>C MANE Select	NP_001335875.1:p.Leu861Pro
NM_000927.5:c.2582T>C	NP_000918.2:p.Leu861Pro
NM_001348944.2:c.2582T>C	NP_001335873.1:p.Leu861Pro
NM_001348945.2:c.2792T>C	NP_001335874.1:p.Leu931Pro