Canonical Allele Identifier: CA7303678

Gene: TDP1

Linked Data

• ClinVar Variation Id: 314827
• ClinVar RCV Id: RCV000321653 ; RCV002472987 ; RCV004021624
• dbSNP Id: rs750038981
• ExAC: 14:90437575 A / G
• gnomAD v2: 14-90437575-A-G
• gnomAD v3: 14-89971231-A-G
• gnomAD v4: 14-89971231-A-G
• MyVariant Identifiers: chr14:g.90437575A>G (hg19) ; chr14:g.89971231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.89971231A>G , CM000676.2:g.89971231A>G	GRCh38
NC_000014.8:g.90437575A>G , CM000676.1:g.90437575A>G	GRCh37
NC_000014.7:g.89507328A>G	NCBI36
NG_009164.1:g.20330A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335725.9:c.716A>G MANE Select	ENSP00000337353.4:p.His239Arg
ENST00000335725.8:c.716A>G	ENSP00000337353.4:p.His239Arg
ENST00000393452.7:c.716A>G	ENSP00000377098.3:p.His239Arg
ENST00000393454.6:c.716A>G	ENSP00000377099.2:p.His239Arg
ENST00000545686.6:c.716A>G	ENSP00000444587.2:p.His239Arg
ENST00000553617.5:c.419A>G	ENSP00000450708.1:p.His140Arg
ENST00000554180.5:c.716A>G	ENSP00000450872.1:p.His239Arg
ENST00000554976.5:c.*228A>G	ENSP00000452042.1:n.*228A>G
ENST00000555178.5:c.716A>G	ENSP00000452363.1:p.His239Arg
ENST00000555565.5:n.396A>G
ENST00000555880.5:c.716A>G	ENSP00000450628.1:p.His239Arg
NM_001008744.1:c.716A>G	NP_001008744.1:p.His239Arg
NM_018319.3:c.716A>G	NP_060789.2:p.His239Arg
XM_005267847.2:c.716A>G	XP_005267904.1:p.His239Arg
XM_005267848.1:c.716A>G	XP_005267905.1:p.His239Arg
XM_006720197.2:c.716A>G	XP_006720260.1:p.His239Arg
XM_006720198.2:c.716A>G	XP_006720261.1:p.His239Arg
XM_006720199.1:c.-80A>G	XP_006720262.1:n.-80A>G
XM_006720200.2:c.-80A>G	XP_006720263.1:n.-80A>G
XM_011536941.1:c.716A>G	XP_011535243.1:p.His239Arg
XM_011536942.1:c.716A>G	XP_011535244.1:p.His239Arg
XM_011536943.1:c.716A>G	XP_011535245.1:p.His239Arg
XM_011536944.1:c.716A>G	XP_011535246.1:p.His239Arg
XR_943492.1:n.1016A>G
NM_001330205.1:c.716A>G	NP_001317134.1:p.His239Arg
XM_005267848.3:c.716A>G	XP_005267905.1:p.His239Arg
XM_006720197.4:c.716A>G	XP_006720260.1:p.His239Arg
XM_011536942.3:c.716A>G	XP_011535244.1:p.His239Arg
XM_011536944.2:c.716A>G	XP_011535246.1:p.His239Arg
XM_017021439.2:c.716A>G	XP_016876928.1:p.His239Arg
XM_017021440.2:c.716A>G	XP_016876929.1:p.His239Arg
XM_024449649.1:c.716A>G	XP_024305417.1:p.His239Arg
XM_024449650.1:c.716A>G	XP_024305418.1:p.His239Arg
XM_024449651.1:c.716A>G	XP_024305419.1:p.His239Arg
XM_024449652.1:c.716A>G	XP_024305420.1:p.His239Arg
XM_024449653.1:c.716A>G	XP_024305421.1:p.His239Arg
XM_024449654.1:c.716A>G	XP_024305422.1:p.His239Arg
XM_024449655.1:c.716A>G	XP_024305423.1:p.His239Arg
XM_024449656.1:c.716A>G	XP_024305424.1:p.His239Arg
XM_024449657.1:c.34A>G	XP_024305425.1:p.Met12Val
XM_024449658.1:c.34A>G	XP_024305426.1:p.Met12Val
XM_024449659.1:c.34A>G	XP_024305427.1:p.Met12Val
XR_001750427.2:n.783A>G
XR_943492.3:n.1010A>G
NM_001008744.2:c.716A>G	NP_001008744.1:p.His239Arg
NM_001330205.2:c.716A>G	NP_001317134.1:p.His239Arg
NM_018319.4:c.716A>G MANE Select	NP_060789.2:p.His239Arg