Canonical Allele Identifier: CA64762477

Gene: CPS1

Linked Data

• dbSNP Id: rs571936934
• gnomAD v2: 2-211473252-G-A
• gnomAD v3: 2-210608528-G-A
• gnomAD v4: 2-210608528-G-A
• COSMIC: COSM174553 ; COSM4537053
• MyVariant Identifiers: chr2:g.211473252G>A (hg19) ; chr2:g.210608528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608528G>A , CM000664.2:g.210608528G>A	GRCh38
NC_000002.11:g.211473252G>A , CM000664.1:g.211473252G>A	GRCh37
NC_000002.10:g.211181497G>A	NCBI36
NG_008285.1:g.135844G>A , LRG_336:g.135844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2360G>A MANE Select	ENSP00000233072.5:p.Arg787Gln
ENST00000430249.7:c.2378G>A	ENSP00000402608.2:p.Arg793Gln
ENST00000451903.3:c.1007G>A	ENSP00000406136.2:p.Arg336Gln
ENST00000673510.1:c.2360G>A	ENSP00000500537.1:p.Arg787Gln
ENST00000673630.1:c.2360G>A	ENSP00000501073.1:p.Arg787Gln
ENST00000673698.1:c.840G>A
ENST00000673711.1:c.2360G>A	ENSP00000501022.1:p.Arg787Gln
ENST00000674074.1:n.1505G>A
ENST00000233072.9:c.2360G>A	ENSP00000233072.5:p.Arg787Gln
ENST00000430249.6:c.2378G>A	ENSP00000402608.2:p.Arg793Gln
ENST00000451903.2:c.1007G>A	ENSP00000406136.2:p.Arg336Gln
NM_001122633.2:c.2378G>A	NP_001116105.1:p.Arg793Gln
NM_001122634.3:c.1007G>A	NP_001116106.1:p.Arg336Gln
NM_001875.4:c.2360G>A , LRG_336t1:c.2360G>A	NP_001866.2:p.Arg787Gln
XM_011510640.1:c.2393G>A	XP_011508942.1:p.Arg798Gln
XM_011510641.1:c.2360G>A	XP_011508943.1:p.Arg787Gln
XM_011510642.1:c.2360G>A	XP_011508944.1:p.Arg787Gln
XM_011510643.1:c.2360G>A	XP_011508945.1:p.Arg787Gln
XM_011510644.1:c.2360G>A	XP_011508946.1:p.Arg787Gln
NM_001122633.3:c.2360G>A	NP_001116105.2:p.Arg787Gln
NM_001369256.1:c.2393G>A	NP_001356185.1:p.Arg798Gln
NM_001369257.1:c.2360G>A	NP_001356186.1:p.Arg787Gln
NM_001875.5:c.2360G>A MANE Select	NP_001866.2:p.Arg787Gln
NR_161225.1:n.3269G>A
NR_163592.1:n.1516G>A