Canonical Allele Identifier: CA586315

Gene: TARDBP

Linked Data

• ClinVar Variation Id: 291734
• ClinVar RCV Id: RCV000646151 ; RCV000625045 ; RCV000516412 ; RCV001668630 ; RCV002418140
• dbSNP Id: rs61730366
• ExAC: 1:11073982 T / C
• gnomAD v2: 1-11073982-T-C
• gnomAD v3: 1-11013925-T-C
• gnomAD v4: 1-11013925-T-C
• MyVariant Identifiers: chr1:g.11073982T>C (hg19) ; chr1:g.11013925T>C (hg38)
• PubMed: PMID:18068872 ; PMID:18288693 ; PMID:18372902 ; PMID:18545701 ; PMID:18779421 ; PMID:18802454 ; PMID:18931000 ; PMID:19204172 ; PMID:19224587 ; PMID:19236453 ; PMID:19695877 ; PMID:19760257 ; PMID:19786775 ; PMID:19864663 ; PMID:20645878 ; PMID:25588603

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11013925T>C , CM000663.2:g.11013925T>C	GRCh38
NC_000001.10:g.11073982T>C , CM000663.1:g.11073982T>C	GRCh37
NC_000001.9:g.10996569T>C	NCBI36
NG_008734.1:g.6304T>C , LRG_659:g.6304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240185.8:c.198T>C MANE Select	ENSP00000240185.4:p.Ala66=
ENST00000639083.1:c.198T>C	ENSP00000491203.1:p.Ala66=
ENST00000639599.1:c.198T>C	ENSP00000492196.1:p.Ala66=
ENST00000649624.1:c.198T>C	ENSP00000497327.1:p.Ala66=
ENST00000240185.7:c.198T>C	ENSP00000240185.3:p.Ala66=
ENST00000315091.7:c.198T>C	ENSP00000313129.3:p.Ala66=
ENST00000439080.6:c.198T>C	ENSP00000404666.3:p.Ala66=
ENST00000472476.5:c.198T>C	ENSP00000465080.1:p.Ala66=
ENST00000473118.5:c.198T>C	ENSP00000465240.1:p.Ala66=
ENST00000473869.5:c.198T>C	ENSP00000432132.1:p.Ala66=
ENST00000476201.5:c.198T>C	ENSP00000466842.2:p.Ala66=
ENST00000613864.4:n.300T>C
ENST00000614757.4:c.198T>C	ENSP00000481867.1:p.Ala66=
ENST00000616545.4:c.198T>C	ENSP00000484722.1:p.Ala66=
ENST00000621715.4:c.198T>C	ENSP00000480690.1:p.Ala66=
ENST00000621790.4:c.198T>C	ENSP00000482191.1:p.Ala66=
ENST00000629725.2:c.198T>C	ENSP00000486989.1:p.Ala66=
NM_007375.3:c.198T>C , LRG_659t1:c.198T>C	NP_031401.1:p.Ala66=
XR_946596.1:n.320T>C
XR_946597.1:n.320T>C
XM_017000863.2:c.198T>C	XP_016856352.1:p.Ala66=
XM_017000864.2:c.198T>C	XP_016856353.1:p.Ala66=
XM_017000865.2:c.198T>C	XP_016856354.1:p.Ala66=
XM_017000866.2:c.198T>C	XP_016856355.1:p.Ala66=
XM_017000867.2:c.198T>C	XP_016856356.1:p.Ala66=
XM_017000868.2:c.198T>C	XP_016856357.1:p.Ala66=
NM_007375.4:c.198T>C MANE Select	NP_031401.1:p.Ala66=