Canonical Allele Identifier: CA368062704

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828671
• ClinVar RCV Id: RCV001028581
• dbSNP Id: rs1584871513
• MyVariant Identifiers: chr7:g.87179542C>A (hg19) ; chr7:g.87550226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550226C>A , CM000669.2:g.87550226C>A	GRCh38
NC_000007.13:g.87179542C>A , CM000669.1:g.87179542C>A	GRCh37
NC_000007.12:g.87017478C>A	NCBI36
NG_011513.1:g.168023G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1295G>T	ENSP00000265724.3:p.Gly432Val
ENST00000622132.5:c.1295G>T MANE Select	ENSP00000478255.1:p.Gly432Val
ENST00000265724.7:c.1295G>T	ENSP00000265724.3:p.Gly432Val
ENST00000543898.5:c.1103G>T	ENSP00000444095.1:p.Gly368Val
ENST00000622132.4:c.1295G>T	ENSP00000478255.1:p.Gly432Val
NM_000927.4:c.1295G>T	NP_000918.2:p.Gly432Val
NM_001348944.1:c.1295G>T	NP_001335873.1:p.Gly432Val
NM_001348945.1:c.1505G>T	NP_001335874.1:p.Gly502Val
NM_001348946.1:c.1295G>T	NP_001335875.1:p.Gly432Val
NM_001348946.2:c.1295G>T MANE Select	NP_001335875.1:p.Gly432Val
NM_000927.5:c.1295G>T	NP_000918.2:p.Gly432Val
NM_001348944.2:c.1295G>T	NP_001335873.1:p.Gly432Val
NM_001348945.2:c.1505G>T	NP_001335874.1:p.Gly502Val