Canonical Allele Identifier: CA243382

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32542507C>A , CM000671.2:g.32542507C>A	GRCh38
NC_000009.11:g.32542505C>A , CM000671.1:g.32542505C>A	GRCh37
NC_000009.10:g.32532505C>A	NCBI36
NG_017050.1:g.15118G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005802.5:c.2018G>T MANE Select	NP_005793.2:p.Arg673Leu
ENST00000360538.7:c.2018G>T MANE Select	ENSP00000353735.2:p.Arg673Leu
NM_001195622.1:c.1823G>T	NP_001182551.1:p.Arg608Leu
NM_001195622.2:c.1823G>T	NP_001182551.1:p.Arg608Leu
NM_005802.4:c.2018G>T	NP_005793.2:p.Arg673Leu
ENST00000360538.6:c.2018G>T	ENSP00000353735.2:p.Arg673Leu
ENST00000379858.1:c.1823G>T	ENSP00000369187.1:p.Arg608Leu
ENST00000680198.1:c.198+8267G>T	ENSP00000505143.1:n.198+8267G>T
ENST00000681750.1:c.-45+8267G>T	ENSP00000506413.1:n.-45+8267G>T