Canonical Allele Identifier: CA586344
Gene: TARDBP HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11016874C>G , CM000663.2:g.11016874C>G GRCh38
NC_000001.10:g.11076931C>G , CM000663.1:g.11076931C>G GRCh37
NC_000001.9:g.10999518C>G NCBI36
NG_008734.1:g.9253C>G , LRG_659:g.9253C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000240185.8:c.269C>G MANE Select ENSP00000240185.4:p.Ala90Gly
ENST00000639083.1:c.269C>G ENSP00000491203.1:p.Ala90Gly
ENST00000639599.1:c.269C>G ENSP00000492196.1:p.Ala90Gly
ENST00000649624.1:c.269C>G ENSP00000497327.1:p.Ala90Gly
ENST00000240185.7:c.269C>G ENSP00000240185.3:p.Ala90Gly
ENST00000315091.7:c.269C>G ENSP00000313129.3:p.Ala90Gly
ENST00000439080.6:c.239-1859C>G ENSP00000404666.3:n.239-1859C>G
ENST00000472476.5:c.*158C>G ENSP00000465080.1:n.*158C>G
ENST00000473118.5:c.269C>G ENSP00000465240.1:p.Ala90Gly
ENST00000473869.5:c.269C>G ENSP00000432132.1:p.Ala90Gly
ENST00000476201.5:c.392C>G ENSP00000466842.2:p.Ala131Gly
ENST00000613864.4:n.371C>G
ENST00000614757.4:c.269C>G ENSP00000481867.1:p.Ala90Gly
ENST00000616545.4:c.269C>G ENSP00000484722.1:p.Ala90Gly
ENST00000617172.4:c.10C>G
ENST00000621715.4:c.269C>G ENSP00000480690.1:p.Ala90Gly
ENST00000621790.4:c.269C>G ENSP00000482191.1:p.Ala90Gly
ENST00000622057.4:c.16C>G
ENST00000629725.2:c.269C>G ENSP00000486989.1:p.Ala90Gly
NM_007375.3:c.269C>G , LRG_659t1:c.269C>G NP_031401.1:p.Ala90Gly
XR_946596.1:n.391C>G
XR_946597.1:n.391C>G
XM_017000863.2:c.269C>G XP_016856352.1:p.Ala90Gly
XM_017000864.2:c.269C>G XP_016856353.1:p.Ala90Gly
XM_017000865.2:c.269C>G XP_016856354.1:p.Ala90Gly
XM_017000866.2:c.269C>G XP_016856355.1:p.Ala90Gly
XM_017000867.2:c.269C>G XP_016856356.1:p.Ala90Gly
XM_017000868.2:c.269C>G XP_016856357.1:p.Ala90Gly
NM_007375.4:c.269C>G MANE Select NP_031401.1:p.Ala90Gly