Canonical Allele Identifier: CA148421

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 95313
• ClinVar RCV Id: RCV000081330 ; RCV000408371 ; RCV001514498 ; RCV001838545 ; RCV003888437
• dbSNP Id: rs10971019
• ExAC: 9:32542204 A / G
• gnomAD v2: 9-32542204-A-G
• gnomAD v3: 9-32542206-A-G
• gnomAD v4: 9-32542206-A-G
• MyVariant Identifiers: chr9:g.32542204A>G (hg19) ; chr9:g.32542206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32542206A>G , CM000671.2:g.32542206A>G	GRCh38
NC_000009.11:g.32542204A>G , CM000671.1:g.32542204A>G	GRCh37
NC_000009.10:g.32532204A>G	NCBI36
NG_017050.1:g.15419T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.2319T>C MANE Select	ENSP00000353735.2:p.Ser773=
ENST00000680198.1:c.198+8568T>C	ENSP00000505143.1:n.198+8568T>C
ENST00000681750.1:c.-45+8568T>C	ENSP00000506413.1:n.-45+8568T>C
ENST00000360538.6:c.2319T>C	ENSP00000353735.2:p.Ser773=
ENST00000379858.1:c.2124T>C	ENSP00000369187.1:p.Ser708=
NM_001195622.1:c.2124T>C	NP_001182551.1:p.Ser708=
NM_005802.4:c.2319T>C	NP_005793.2:p.Ser773=
NM_005802.5:c.2319T>C MANE Select	NP_005793.2:p.Ser773=
NM_001195622.2:c.2124T>C	NP_001182551.1:p.Ser708=