Canonical Allele Identifier: CA243376

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 196422
• ClinVar RCV Id: RCV000177243 ; RCV001167023
• dbSNP Id: rs143560726
• ExAC: 9:32541661 T / G
• gnomAD v2: 9-32541661-T-G
• gnomAD v3: 9-32541663-T-G
• gnomAD v4: 9-32541663-T-G
• MyVariant Identifiers: chr9:g.32541661T>G (hg19) ; chr9:g.32541663T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32541663T>G , CM000671.2:g.32541663T>G	GRCh38
NC_000009.11:g.32541661T>G , CM000671.1:g.32541661T>G	GRCh37
NC_000009.10:g.32531661T>G	NCBI36
NG_017050.1:g.15962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.2862A>C MANE Select	ENSP00000353735.2:p.Thr954=
ENST00000680198.1:c.198+9111A>C	ENSP00000505143.1:n.198+9111A>C
ENST00000681750.1:c.-45+9111A>C	ENSP00000506413.1:n.-45+9111A>C
ENST00000360538.6:c.2862A>C	ENSP00000353735.2:p.Thr954=
ENST00000379858.1:c.2667A>C	ENSP00000369187.1:p.Thr889=
NM_001195622.1:c.2667A>C	NP_001182551.1:p.Thr889=
NM_005802.4:c.2862A>C	NP_005793.2:p.Thr954=
NM_005802.5:c.2862A>C MANE Select	NP_005793.2:p.Thr954=
NM_001195622.2:c.2667A>C	NP_001182551.1:p.Thr889=