Canonical Allele Identifier: CA464295211

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 1105835
• ClinVar RCV Id: RCV001430341
• dbSNP Id: rs1563986931
• gnomAD v4: 9-32550801-T-A
• MyVariant Identifiers: chr9:g.32550799T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550801T>A , CM000671.2:g.32550801T>A	GRCh38
NC_000009.11:g.32550799T>A , CM000671.1:g.32550799T>A	GRCh37
NC_000009.10:g.32540799T>A	NCBI36
NG_017050.1:g.6824A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.171A>T MANE Select	ENSP00000353735.2:p.Pro57=
ENST00000680198.1:c.171A>T	ENSP00000505143.1:p.Pro57=
ENST00000681750.1:c.-72A>T	ENSP00000506413.1:n.-72A>T
ENST00000360538.6:c.171A>T	ENSP00000353735.2:p.Pro57=
ENST00000379858.1:c.3+1633A>T	ENSP00000369187.1:n.3+1633A>T
NM_001195622.1:c.3+1633A>T	NP_001182551.1:n.3+1633A>T
NM_005802.4:c.171A>T	NP_005793.2:p.Pro57=
NM_005802.5:c.171A>T MANE Select	NP_005793.2:p.Pro57=
NM_001195622.2:c.3+1633A>T	NP_001182551.1:n.3+1633A>T