Canonical Allele Identifier: CA201640

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 195250
• ClinVar RCV Id: RCV000175811 ; RCV000329393 ; RCV000514214 ; RCV002478569 ; RCV003888626
• dbSNP Id: rs61758066
• ExAC: 9:32550896 G / C
• gnomAD v2: 9-32550896-G-C
• gnomAD v3: 9-32550898-G-C
• gnomAD v4: 9-32550898-G-C
• COSMIC: COSM3763883
• MyVariant Identifiers: chr9:g.32550896G>C (hg19) ; chr9:g.32550898G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550898G>C , CM000671.2:g.32550898G>C	GRCh38
NC_000009.11:g.32550896G>C , CM000671.1:g.32550896G>C	GRCh37
NC_000009.10:g.32540896G>C	NCBI36
NG_017050.1:g.6727C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.74C>G MANE Select	ENSP00000353735.2:p.Ser25Trp
ENST00000680198.1:c.74C>G	ENSP00000505143.1:p.Ser25Trp
ENST00000681750.1:c.-169C>G	ENSP00000506413.1:n.-169C>G
ENST00000360538.6:c.74C>G	ENSP00000353735.2:p.Ser25Trp
ENST00000379858.1:c.3+1536C>G	ENSP00000369187.1:n.3+1536C>G
NM_001195622.1:c.3+1536C>G	NP_001182551.1:n.3+1536C>G
NM_005802.4:c.74C>G	NP_005793.2:p.Ser25Trp
NM_005802.5:c.74C>G MANE Select	NP_005793.2:p.Ser25Trp
NM_001195622.2:c.3+1536C>G	NP_001182551.1:n.3+1536C>G