Canonical Allele Identifier: CA243378

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 196423
• ClinVar RCV Id: RCV000177244 ; RCV001168731
• dbSNP Id: rs746320974
• ExAC: 9:32542179 T / C
• gnomAD v2: 9-32542179-T-C
• gnomAD v3: 9-32542181-T-C
• gnomAD v4: 9-32542181-T-C
• MyVariant Identifiers: chr9:g.32542179T>C (hg19) ; chr9:g.32542181T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32542181T>C , CM000671.2:g.32542181T>C	GRCh38
NC_000009.11:g.32542179T>C , CM000671.1:g.32542179T>C	GRCh37
NC_000009.10:g.32532179T>C	NCBI36
NG_017050.1:g.15444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.2344A>G MANE Select	ENSP00000353735.2:p.Thr782Ala
ENST00000680198.1:c.198+8593A>G	ENSP00000505143.1:n.198+8593A>G
ENST00000681750.1:c.-45+8593A>G	ENSP00000506413.1:n.-45+8593A>G
ENST00000360538.6:c.2344A>G	ENSP00000353735.2:p.Thr782Ala
ENST00000379858.1:c.2149A>G	ENSP00000369187.1:p.Thr717Ala
NM_001195622.1:c.2149A>G	NP_001182551.1:p.Thr717Ala
NM_005802.4:c.2344A>G	NP_005793.2:p.Thr782Ala
NM_005802.5:c.2344A>G MANE Select	NP_005793.2:p.Thr782Ala
NM_001195622.2:c.2149A>G	NP_001182551.1:p.Thr717Ala