Canonical Allele Identifier: CA368047330

Gene: ABCB1

Linked Data

• dbSNP Id: rs1359447217
• COSMIC: COSM3032643
• MyVariant Identifiers: chr7:g.87145949G>A (hg19) ; chr7:g.87516633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516633G>A , CM000669.2:g.87516633G>A	GRCh38
NC_000007.13:g.87145949G>A , CM000669.1:g.87145949G>A	GRCh37
NC_000007.12:g.86983885G>A	NCBI36
NG_011513.1:g.201616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2960C>T	ENSP00000265724.3:p.Ala987Val
ENST00000622132.5:c.2960C>T MANE Select	ENSP00000478255.1:p.Ala987Val
ENST00000265724.7:c.2960C>T	ENSP00000265724.3:p.Ala987Val
ENST00000475929.5:n.116C>T
ENST00000483831.1:n.518C>T
ENST00000488737.6:n.602C>T
ENST00000496821.5:n.588C>T
ENST00000543898.5:c.2768C>T	ENSP00000444095.1:p.Ala923Val
ENST00000622132.4:c.2960C>T	ENSP00000478255.1:p.Ala987Val
NM_000927.4:c.2960C>T	NP_000918.2:p.Ala987Val
NM_001348944.1:c.2960C>T	NP_001335873.1:p.Ala987Val
NM_001348945.1:c.3170C>T	NP_001335874.1:p.Ala1057Val
NM_001348946.1:c.2960C>T	NP_001335875.1:p.Ala987Val
NM_001348946.2:c.2960C>T MANE Select	NP_001335875.1:p.Ala987Val
NM_000927.5:c.2960C>T	NP_000918.2:p.Ala987Val
NM_001348944.2:c.2960C>T	NP_001335873.1:p.Ala987Val
NM_001348945.2:c.3170C>T	NP_001335874.1:p.Ala1057Val