Canonical Allele Identifier: CA350439499

Gene: CPS1

Linked Data

• dbSNP Id: rs1218362638
• gnomAD v3: 2-210608399-G-A
• gnomAD v4: 2-210608399-G-A
• MyVariant Identifiers: chr2:g.211473123G>A (hg19) ; chr2:g.210608399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608399G>A , CM000664.2:g.210608399G>A	GRCh38
NC_000002.11:g.211473123G>A , CM000664.1:g.211473123G>A	GRCh37
NC_000002.10:g.211181368G>A	NCBI36
NG_008285.1:g.135715G>A , LRG_336:g.135715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2231G>A MANE Select	ENSP00000233072.5:p.Gly744Glu
ENST00000430249.7:c.2249G>A	ENSP00000402608.2:p.Gly750Glu
ENST00000451903.3:c.878G>A	ENSP00000406136.2:p.Gly293Glu
ENST00000673510.1:c.2231G>A	ENSP00000500537.1:p.Gly744Glu
ENST00000673630.1:c.2231G>A	ENSP00000501073.1:p.Gly744Glu
ENST00000673698.1:c.711G>A
ENST00000673711.1:c.2231G>A	ENSP00000501022.1:p.Gly744Glu
ENST00000674074.1:n.1376G>A
ENST00000233072.9:c.2231G>A	ENSP00000233072.5:p.Gly744Glu
ENST00000430249.6:c.2249G>A	ENSP00000402608.2:p.Gly750Glu
ENST00000451903.2:c.878G>A	ENSP00000406136.2:p.Gly293Glu
NM_001122633.2:c.2249G>A	NP_001116105.1:p.Gly750Glu
NM_001122634.3:c.878G>A	NP_001116106.1:p.Gly293Glu
NM_001875.4:c.2231G>A , LRG_336t1:c.2231G>A	NP_001866.2:p.Gly744Glu
XM_011510640.1:c.2264G>A	XP_011508942.1:p.Gly755Glu
XM_011510641.1:c.2231G>A	XP_011508943.1:p.Gly744Glu
XM_011510642.1:c.2231G>A	XP_011508944.1:p.Gly744Glu
XM_011510643.1:c.2231G>A	XP_011508945.1:p.Gly744Glu
XM_011510644.1:c.2231G>A	XP_011508946.1:p.Gly744Glu
NM_001122633.3:c.2231G>A	NP_001116105.2:p.Gly744Glu
NM_001369256.1:c.2264G>A	NP_001356185.1:p.Gly755Glu
NM_001369257.1:c.2231G>A	NP_001356186.1:p.Gly744Glu
NM_001875.5:c.2231G>A MANE Select	NP_001866.2:p.Gly744Glu
NR_161225.1:n.3140G>A
NR_163592.1:n.1387G>A