Canonical Allele Identifier: CA368040213
Gene: ABCB1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87509442A>T , CM000669.2:g.87509442A>T GRCh38
NC_000007.13:g.87138758A>T , CM000669.1:g.87138758A>T GRCh37
NC_000007.12:g.86976694A>T NCBI36
NG_011513.1:g.208807T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3322T>A ENSP00000265724.3:p.Trp1108Arg
ENST00000622132.5:c.3322T>A MANE Select ENSP00000478255.1:p.Trp1108Arg
ENST00000265724.7:c.3322T>A ENSP00000265724.3:p.Trp1108Arg
ENST00000475929.5:n.478T>A
ENST00000488737.6:n.964T>A
ENST00000543898.5:c.3130T>A ENSP00000444095.1:p.Trp1044Arg
ENST00000622132.4:c.3322T>A ENSP00000478255.1:p.Trp1108Arg
NM_000927.4:c.3322T>A NP_000918.2:p.Trp1108Arg
NM_001348944.1:c.3322T>A NP_001335873.1:p.Trp1108Arg
NM_001348945.1:c.3532T>A NP_001335874.1:p.Trp1178Arg
NM_001348946.1:c.3322T>A NP_001335875.1:p.Trp1108Arg
NM_001348946.2:c.3322T>A MANE Select NP_001335875.1:p.Trp1108Arg
NM_000927.5:c.3322T>A NP_000918.2:p.Trp1108Arg
NM_001348944.2:c.3322T>A NP_001335873.1:p.Trp1108Arg
NM_001348945.2:c.3532T>A NP_001335874.1:p.Trp1178Arg