Canonical Allele Identifier: CA373173446

Gene: TOPORS

Linked Data

• gnomAD v4: 9-32550832-A-G
• MyVariant Identifiers: chr9:g.32550830A>G (hg19) ; chr9:g.32550832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550832A>G , CM000671.2:g.32550832A>G	GRCh38
NC_000009.11:g.32550830A>G , CM000671.1:g.32550830A>G	GRCh37
NC_000009.10:g.32540830A>G	NCBI36
NG_017050.1:g.6793T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.140T>C MANE Select	ENSP00000353735.2:p.Leu47Pro
ENST00000680198.1:c.140T>C	ENSP00000505143.1:p.Leu47Pro
ENST00000681750.1:c.-103T>C	ENSP00000506413.1:n.-103T>C
ENST00000360538.6:c.140T>C	ENSP00000353735.2:p.Leu47Pro
ENST00000379858.1:c.3+1602T>C	ENSP00000369187.1:n.3+1602T>C
NM_001195622.1:c.3+1602T>C	NP_001182551.1:n.3+1602T>C
NM_005802.4:c.140T>C	NP_005793.2:p.Leu47Pro
NM_005802.5:c.140T>C MANE Select	NP_005793.2:p.Leu47Pro
NM_001195622.2:c.3+1602T>C	NP_001182551.1:n.3+1602T>C