Canonical Allele Identifier: CA464295297

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 1628895
• ClinVar RCV Id: RCV002116370
• dbSNP Id: rs2118981213
• gnomAD v4: 9-32550870-T-C
• MyVariant Identifiers: chr9:g.32550868T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550870T>C , CM000671.2:g.32550870T>C	GRCh38
NC_000009.11:g.32550868T>C , CM000671.1:g.32550868T>C	GRCh37
NC_000009.10:g.32540868T>C	NCBI36
NG_017050.1:g.6755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.102A>G MANE Select	ENSP00000353735.2:p.Val34=
ENST00000680198.1:c.102A>G	ENSP00000505143.1:p.Val34=
ENST00000681750.1:c.-141A>G	ENSP00000506413.1:n.-141A>G
ENST00000360538.6:c.102A>G	ENSP00000353735.2:p.Val34=
ENST00000379858.1:c.3+1564A>G	ENSP00000369187.1:n.3+1564A>G
NM_001195622.1:c.3+1564A>G	NP_001182551.1:n.3+1564A>G
NM_005802.4:c.102A>G	NP_005793.2:p.Val34=
NM_005802.5:c.102A>G MANE Select	NP_005793.2:p.Val34=
NM_001195622.2:c.3+1564A>G	NP_001182551.1:n.3+1564A>G