Canonical Allele Identifier: CA368045031

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87515422-A-T
• COSMIC: COSM5767427
• MyVariant Identifiers: chr7:g.87144738A>T (hg19) ; chr7:g.87515422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515422A>T , CM000669.2:g.87515422A>T	GRCh38
NC_000007.13:g.87144738A>T , CM000669.1:g.87144738A>T	GRCh37
NC_000007.12:g.86982674A>T	NCBI36
NG_011513.1:g.202827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3091T>A	ENSP00000265724.3:p.Leu1031Met
ENST00000622132.5:c.3091T>A MANE Select	ENSP00000478255.1:p.Leu1031Met
ENST00000265724.7:c.3091T>A	ENSP00000265724.3:p.Leu1031Met
ENST00000475929.5:n.247T>A
ENST00000488737.6:n.733T>A
ENST00000496821.5:n.719T>A
ENST00000543898.5:c.2899T>A	ENSP00000444095.1:p.Leu967Met
ENST00000622132.4:c.3091T>A	ENSP00000478255.1:p.Leu1031Met
NM_000927.4:c.3091T>A	NP_000918.2:p.Leu1031Met
NM_001348944.1:c.3091T>A	NP_001335873.1:p.Leu1031Met
NM_001348945.1:c.3301T>A	NP_001335874.1:p.Leu1101Met
NM_001348946.1:c.3091T>A	NP_001335875.1:p.Leu1031Met
NM_001348946.2:c.3091T>A MANE Select	NP_001335875.1:p.Leu1031Met
NM_000927.5:c.3091T>A	NP_000918.2:p.Leu1031Met
NM_001348944.2:c.3091T>A	NP_001335873.1:p.Leu1031Met
NM_001348945.2:c.3301T>A	NP_001335874.1:p.Leu1101Met