Canonical Allele Identifier: CA340377

Gene: TARDBP

Linked Data

• ClinVar Variation Id: 5233
• ClinVar RCV Id: RCV000005544
• dbSNP Id: rs80356717
• MyVariant Identifiers: chr1:g.11078893A>G (hg19) ; chr1:g.11018836A>G (hg38)
• PubMed: PMID:18372902 ; PMID:20301761

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11018836A>G , CM000663.2:g.11018836A>G	GRCh38
NC_000001.10:g.11078893A>G , CM000663.1:g.11078893A>G	GRCh37
NC_000001.9:g.11001480A>G	NCBI36
NG_008734.1:g.11215A>G , LRG_659:g.11215A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240185.8:c.506A>G MANE Select	ENSP00000240185.4:p.Asp169Gly
ENST00000639083.1:c.506A>G	ENSP00000491203.1:p.Asp169Gly
ENST00000639599.1:c.506A>G	ENSP00000492196.1:p.Asp169Gly
ENST00000649624.1:c.506A>G	ENSP00000497327.1:p.Asp169Gly
ENST00000240185.7:c.506A>G	ENSP00000240185.3:p.Asp169Gly
ENST00000315091.7:c.506A>G	ENSP00000313129.3:p.Asp169Gly
ENST00000439080.6:c.*87A>G	ENSP00000404666.3:n.*87A>G
ENST00000472476.5:c.*395A>G	ENSP00000465080.1:n.*395A>G
ENST00000473118.5:c.506A>G	ENSP00000465240.1:p.Asp169Gly
ENST00000473869.5:c.506A>G	ENSP00000432132.1:p.Asp169Gly
ENST00000476201.5:c.629A>G	ENSP00000466842.2:p.Asp210Gly
ENST00000611963.4:c.146A>G	ENSP00000481330.1:p.Asp49Gly
ENST00000614757.4:c.506A>G	ENSP00000481867.1:p.Asp169Gly
ENST00000616545.4:c.506A>G	ENSP00000484722.1:p.Asp169Gly
ENST00000617172.4:c.247A>G
ENST00000618606.1:n.234A>G
ENST00000619555.4:c.57A>G
ENST00000620632.4:c.57A>G
ENST00000621715.4:c.506A>G	ENSP00000480690.1:p.Asp169Gly
ENST00000621790.4:c.506A>G	ENSP00000482191.1:p.Asp169Gly
ENST00000622057.4:c.253A>G
ENST00000629725.2:c.506A>G	ENSP00000486989.1:p.Asp169Gly
NM_007375.3:c.506A>G , LRG_659t1:c.506A>G	NP_031401.1:p.Asp169Gly
XR_946596.1:n.628A>G
XR_946597.1:n.628A>G
XM_017000863.2:c.506A>G	XP_016856352.1:p.Asp169Gly
XM_017000864.2:c.506A>G	XP_016856353.1:p.Asp169Gly
XM_017000865.2:c.506A>G	XP_016856354.1:p.Asp169Gly
XM_017000866.2:c.506A>G	XP_016856355.1:p.Asp169Gly
XM_017000867.2:c.506A>G	XP_016856356.1:p.Asp169Gly
XM_017000868.2:c.506A>G	XP_016856357.1:p.Asp169Gly
NM_007375.4:c.506A>G MANE Select	NP_031401.1:p.Asp169Gly