Canonical Allele Identifier: CA162101938

Gene: ABCB1

Linked Data

• dbSNP Id: rs72552784
• gnomAD v4: 7-87516598-C-T
• COSMIC: COSM1673260
• MyVariant Identifiers: chr7:g.87145914C>T (hg19) ; chr7:g.87516598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516598C>T , CM000669.2:g.87516598C>T	GRCh38
NC_000007.13:g.87145914C>T , CM000669.1:g.87145914C>T	GRCh37
NC_000007.12:g.86983850C>T	NCBI36
NG_011513.1:g.201651G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.2995G>A	ENSP00000265724.3:p.Ala999Thr
ENST00000622132.5:c.2995G>A MANE Select	ENSP00000478255.1:p.Ala999Thr
ENST00000265724.7:c.2995G>A	ENSP00000265724.3:p.Ala999Thr
ENST00000475929.5:n.151G>A
ENST00000483831.1:n.553G>A
ENST00000488737.6:n.637G>A
ENST00000496821.5:n.623G>A
ENST00000543898.5:c.2803G>A	ENSP00000444095.1:p.Ala935Thr
ENST00000622132.4:c.2995G>A	ENSP00000478255.1:p.Ala999Thr
NM_000927.4:c.2995G>A	NP_000918.2:p.Ala999Thr
NM_001348944.1:c.2995G>A	NP_001335873.1:p.Ala999Thr
NM_001348945.1:c.3205G>A	NP_001335874.1:p.Ala1069Thr
NM_001348946.1:c.2995G>A	NP_001335875.1:p.Ala999Thr
NM_001348946.2:c.2995G>A MANE Select	NP_001335875.1:p.Ala999Thr
NM_000927.5:c.2995G>A	NP_000918.2:p.Ala999Thr
NM_001348944.2:c.2995G>A	NP_001335873.1:p.Ala999Thr
NM_001348945.2:c.3205G>A	NP_001335874.1:p.Ala1069Thr