Canonical Allele Identifier: CA431012247

Gene: CPS1

Linked Data

• dbSNP Id: rs1698688499
• gnomAD v4: 2-210600646-G-A
• MyVariant Identifiers: chr2:g.211465370G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210600646G>A , CM000664.2:g.210600646G>A	GRCh38
NC_000002.11:g.211465370G>A , CM000664.1:g.211465370G>A	GRCh37
NC_000002.10:g.211173615G>A	NCBI36
NG_008285.1:g.127962G>A , LRG_336:g.127962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1641G>A MANE Select	ENSP00000233072.5:p.Arg547=
ENST00000430249.7:c.1659G>A	ENSP00000402608.2:p.Arg553=
ENST00000451903.3:c.288G>A	ENSP00000406136.2:p.Arg96=
ENST00000673510.1:c.1641G>A	ENSP00000500537.1:p.Arg547=
ENST00000673630.1:c.1641G>A	ENSP00000501073.1:p.Arg547=
ENST00000673698.1:c.121G>A
ENST00000673711.1:c.1641G>A	ENSP00000501022.1:p.Arg547=
ENST00000674074.1:n.786G>A
ENST00000233072.9:c.1641G>A	ENSP00000233072.5:p.Arg547=
ENST00000430249.6:c.1659G>A	ENSP00000402608.2:p.Arg553=
ENST00000451903.2:c.288G>A	ENSP00000406136.2:p.Arg96=
NM_001122633.2:c.1659G>A	NP_001116105.1:p.Arg553=
NM_001122634.3:c.288G>A	NP_001116106.1:p.Arg96=
NM_001875.4:c.1641G>A , LRG_336t1:c.1641G>A	NP_001866.2:p.Arg547=
XM_011510640.1:c.1674G>A	XP_011508942.1:p.Arg558=
XM_011510641.1:c.1641G>A	XP_011508943.1:p.Arg547=
XM_011510642.1:c.1641G>A	XP_011508944.1:p.Arg547=
XM_011510643.1:c.1641G>A	XP_011508945.1:p.Arg547=
XM_011510644.1:c.1641G>A	XP_011508946.1:p.Arg547=
NM_001122633.3:c.1641G>A	NP_001116105.2:p.Arg547=
NM_001369256.1:c.1674G>A	NP_001356185.1:p.Arg558=
NM_001369257.1:c.1641G>A	NP_001356186.1:p.Arg547=
NM_001875.5:c.1641G>A MANE Select	NP_001866.2:p.Arg547=
NR_161225.1:n.2550G>A
NR_163592.1:n.797G>A