Canonical Allele Identifier: CA368062531

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828679
• ClinVar RCV Id: RCV001028589
• dbSNP Id: rs201725784
• MyVariant Identifiers: chr7:g.87179510G>T (hg19) ; chr7:g.87550194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550194G>T , CM000669.2:g.87550194G>T	GRCh38
NC_000007.13:g.87179510G>T , CM000669.1:g.87179510G>T	GRCh37
NC_000007.12:g.87017446G>T	NCBI36
NG_011513.1:g.168055C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.1327C>A	ENSP00000265724.3:p.Leu443Ile
ENST00000622132.5:c.1327C>A MANE Select	ENSP00000478255.1:p.Leu443Ile
ENST00000265724.7:c.1327C>A	ENSP00000265724.3:p.Leu443Ile
ENST00000543898.5:c.1135C>A	ENSP00000444095.1:p.Leu379Ile
ENST00000622132.4:c.1327C>A	ENSP00000478255.1:p.Leu443Ile
NM_000927.4:c.1327C>A	NP_000918.2:p.Leu443Ile
NM_001348944.1:c.1327C>A	NP_001335873.1:p.Leu443Ile
NM_001348945.1:c.1537C>A	NP_001335874.1:p.Leu513Ile
NM_001348946.1:c.1327C>A	NP_001335875.1:p.Leu443Ile
NM_001348946.2:c.1327C>A MANE Select	NP_001335875.1:p.Leu443Ile
NM_000927.5:c.1327C>A	NP_000918.2:p.Leu443Ile
NM_001348944.2:c.1327C>A	NP_001335873.1:p.Leu443Ile
NM_001348945.2:c.1537C>A	NP_001335874.1:p.Leu513Ile