Canonical Allele Identifier: CA192365647

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 2119563
• ClinVar RCV Id: RCV003033157
• dbSNP Id: rs952765710
• MyVariant Identifiers: chr9:g.32550839G>A (hg19) ; chr9:g.32550841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550841G>A , CM000671.2:g.32550841G>A	GRCh38
NC_000009.11:g.32550839G>A , CM000671.1:g.32550839G>A	GRCh37
NC_000009.10:g.32540839G>A	NCBI36
NG_017050.1:g.6784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.131C>T MANE Select	ENSP00000353735.2:p.Pro44Leu
ENST00000680198.1:c.131C>T	ENSP00000505143.1:p.Pro44Leu
ENST00000681750.1:c.-112C>T	ENSP00000506413.1:n.-112C>T
ENST00000360538.6:c.131C>T	ENSP00000353735.2:p.Pro44Leu
ENST00000379858.1:c.3+1593C>T	ENSP00000369187.1:n.3+1593C>T
NM_001195622.1:c.3+1593C>T	NP_001182551.1:n.3+1593C>T
NM_005802.4:c.131C>T	NP_005793.2:p.Pro44Leu
NM_005802.5:c.131C>T MANE Select	NP_005793.2:p.Pro44Leu
NM_001195622.2:c.3+1593C>T	NP_001182551.1:n.3+1593C>T