Canonical Allele Identifier: CA368044902

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87515415-C-T
• COSMIC: COSM5928884
• MyVariant Identifiers: chr7:g.87144731C>T (hg19) ; chr7:g.87515415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515415C>T , CM000669.2:g.87515415C>T	GRCh38
NC_000007.13:g.87144731C>T , CM000669.1:g.87144731C>T	GRCh37
NC_000007.12:g.86982667C>T	NCBI36
NG_011513.1:g.202834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3098G>A	ENSP00000265724.3:p.Gly1033Glu
ENST00000622132.5:c.3098G>A MANE Select	ENSP00000478255.1:p.Gly1033Glu
ENST00000265724.7:c.3098G>A	ENSP00000265724.3:p.Gly1033Glu
ENST00000475929.5:n.254G>A
ENST00000488737.6:n.740G>A
ENST00000496821.5:n.726G>A
ENST00000543898.5:c.2906G>A	ENSP00000444095.1:p.Gly969Glu
ENST00000622132.4:c.3098G>A	ENSP00000478255.1:p.Gly1033Glu
NM_000927.4:c.3098G>A	NP_000918.2:p.Gly1033Glu
NM_001348944.1:c.3098G>A	NP_001335873.1:p.Gly1033Glu
NM_001348945.1:c.3308G>A	NP_001335874.1:p.Gly1103Glu
NM_001348946.1:c.3098G>A	NP_001335875.1:p.Gly1033Glu
NM_001348946.2:c.3098G>A MANE Select	NP_001335875.1:p.Gly1033Glu
NM_000927.5:c.3098G>A	NP_000918.2:p.Gly1033Glu
NM_001348944.2:c.3098G>A	NP_001335873.1:p.Gly1033Glu
NM_001348945.2:c.3308G>A	NP_001335874.1:p.Gly1103Glu