Canonical Allele Identifier: CA17867665
Gene: TARDBP HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11013922T>A , CM000663.2:g.11013922T>A GRCh38
NC_000001.10:g.11073979T>A , CM000663.1:g.11073979T>A GRCh37
NC_000001.9:g.10996566T>A NCBI36
NG_008734.1:g.6301T>A , LRG_659:g.6301T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000240185.8:c.195T>A MANE Select ENSP00000240185.4:p.Asp65Glu
ENST00000639083.1:c.195T>A ENSP00000491203.1:p.Asp65Glu
ENST00000639599.1:c.195T>A ENSP00000492196.1:p.Asp65Glu
ENST00000649624.1:c.195T>A ENSP00000497327.1:p.Asp65Glu
ENST00000240185.7:c.195T>A ENSP00000240185.3:p.Asp65Glu
ENST00000315091.7:c.195T>A ENSP00000313129.3:p.Asp65Glu
ENST00000439080.6:c.195T>A ENSP00000404666.3:p.Asp65Glu
ENST00000472476.5:c.195T>A ENSP00000465080.1:p.Asp65Glu
ENST00000473118.5:c.195T>A ENSP00000465240.1:p.Asp65Glu
ENST00000473869.5:c.195T>A ENSP00000432132.1:p.Asp65Glu
ENST00000476201.5:c.195T>A ENSP00000466842.2:p.Asp65Glu
ENST00000613864.4:n.297T>A
ENST00000614757.4:c.195T>A ENSP00000481867.1:p.Asp65Glu
ENST00000616545.4:c.195T>A ENSP00000484722.1:p.Asp65Glu
ENST00000621715.4:c.195T>A ENSP00000480690.1:p.Asp65Glu
ENST00000621790.4:c.195T>A ENSP00000482191.1:p.Asp65Glu
ENST00000629725.2:c.195T>A ENSP00000486989.1:p.Asp65Glu
NM_007375.3:c.195T>A , LRG_659t1:c.195T>A NP_031401.1:p.Asp65Glu
XR_946596.1:n.317T>A
XR_946597.1:n.317T>A
XM_017000863.2:c.195T>A XP_016856352.1:p.Asp65Glu
XM_017000864.2:c.195T>A XP_016856353.1:p.Asp65Glu
XM_017000865.2:c.195T>A XP_016856354.1:p.Asp65Glu
XM_017000866.2:c.195T>A XP_016856355.1:p.Asp65Glu
XM_017000867.2:c.195T>A XP_016856356.1:p.Asp65Glu
XM_017000868.2:c.195T>A XP_016856357.1:p.Asp65Glu
NM_007375.4:c.195T>A MANE Select NP_031401.1:p.Asp65Glu