Canonical Allele Identifier: CA373173563

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 2979045
• ClinVar RCV Id: RCV003831675
• gnomAD v4: 9-32550866-G-A
• MyVariant Identifiers: chr9:g.32550864G>A (hg19) ; chr9:g.32550866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550866G>A , CM000671.2:g.32550866G>A	GRCh38
NC_000009.11:g.32550864G>A , CM000671.1:g.32550864G>A	GRCh37
NC_000009.10:g.32540864G>A	NCBI36
NG_017050.1:g.6759C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.106C>T MANE Select	ENSP00000353735.2:p.Leu36Phe
ENST00000680198.1:c.106C>T	ENSP00000505143.1:p.Leu36Phe
ENST00000681750.1:c.-137C>T	ENSP00000506413.1:n.-137C>T
ENST00000360538.6:c.106C>T	ENSP00000353735.2:p.Leu36Phe
ENST00000379858.1:c.3+1568C>T	ENSP00000369187.1:n.3+1568C>T
NM_001195622.1:c.3+1568C>T	NP_001182551.1:n.3+1568C>T
NM_005802.4:c.106C>T	NP_005793.2:p.Leu36Phe
NM_005802.5:c.106C>T MANE Select	NP_005793.2:p.Leu36Phe
NM_001195622.2:c.3+1568C>T	NP_001182551.1:n.3+1568C>T