Canonical Allele Identifier: CA586338

Gene: TARDBP

Linked Data

• ClinVar Variation Id: 291736
• ClinVar RCV Id: RCV000381213 ; RCV001795488 ; RCV002059320
• dbSNP Id: rs200066188
• ExAC: 1:11076886 G / A
• gnomAD v2: 1-11076886-G-A
• gnomAD v3: 1-11016829-G-A
• gnomAD v4: 1-11016829-G-A
• MyVariant Identifiers: chr1:g.11076886G>A (hg19) ; chr1:g.11016829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11016829G>A , CM000663.2:g.11016829G>A	GRCh38
NC_000001.10:g.11076886G>A , CM000663.1:g.11076886G>A	GRCh37
NC_000001.9:g.10999473G>A	NCBI36
NG_008734.1:g.9208G>A , LRG_659:g.9208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240185.8:c.239-15G>A MANE Select	ENSP00000240185.4:n.239-15G>A
ENST00000639083.1:c.239-15G>A	ENSP00000491203.1:n.239-15G>A
ENST00000639599.1:c.239-15G>A	ENSP00000492196.1:n.239-15G>A
ENST00000649624.1:c.239-15G>A	ENSP00000497327.1:n.239-15G>A
ENST00000240185.7:c.239-15G>A	ENSP00000240185.3:n.239-15G>A
ENST00000315091.7:c.239-15G>A	ENSP00000313129.3:n.239-15G>A
ENST00000439080.6:c.239-1904G>A	ENSP00000404666.3:n.239-1904G>A
ENST00000472476.5:c.*128-15G>A	ENSP00000465080.1:n.*128-15G>A
ENST00000473118.5:c.239-15G>A	ENSP00000465240.1:n.239-15G>A
ENST00000473869.5:c.239-15G>A	ENSP00000432132.1:n.239-15G>A
ENST00000476201.5:c.362-15G>A	ENSP00000466842.2:n.362-15G>A
ENST00000613864.4:n.341-15G>A
ENST00000614757.4:c.239-15G>A	ENSP00000481867.1:n.239-15G>A
ENST00000616545.4:c.239-15G>A	ENSP00000484722.1:n.239-15G>A
ENST00000621715.4:c.239-15G>A	ENSP00000480690.1:n.239-15G>A
ENST00000621790.4:c.239-15G>A	ENSP00000482191.1:n.239-15G>A
ENST00000629725.2:c.239-15G>A	ENSP00000486989.1:n.239-15G>A
NM_007375.3:c.239-15G>A , LRG_659t1:c.239-15G>A	NP_031401.1:n.239-15G>A
XR_946596.1:n.361-15G>A
XR_946597.1:n.361-15G>A
XM_017000863.2:c.239-15G>A	XP_016856352.1:n.239-15G>A
XM_017000864.2:c.239-15G>A	XP_016856353.1:n.239-15G>A
XM_017000865.2:c.239-15G>A	XP_016856354.1:n.239-15G>A
XM_017000866.2:c.239-15G>A	XP_016856355.1:n.239-15G>A
XM_017000867.2:c.239-15G>A	XP_016856356.1:n.239-15G>A
XM_017000868.2:c.239-15G>A	XP_016856357.1:n.239-15G>A
NM_007375.4:c.239-15G>A MANE Select	NP_031401.1:n.239-15G>A