Canonical Allele Identifier: CA350439490

Gene: CPS1

Linked Data

• dbSNP Id: rs1284100991
• gnomAD v2: 2-211473117-C-T
• gnomAD v4: 2-210608393-C-T
• MyVariant Identifiers: chr2:g.211473117C>T (hg19) ; chr2:g.210608393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608393C>T , CM000664.2:g.210608393C>T	GRCh38
NC_000002.11:g.211473117C>T , CM000664.1:g.211473117C>T	GRCh37
NC_000002.10:g.211181362C>T	NCBI36
NG_008285.1:g.135709C>T , LRG_336:g.135709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2225C>T MANE Select	ENSP00000233072.5:p.Ala742Val
ENST00000430249.7:c.2243C>T	ENSP00000402608.2:p.Ala748Val
ENST00000451903.3:c.872C>T	ENSP00000406136.2:p.Ala291Val
ENST00000673510.1:c.2225C>T	ENSP00000500537.1:p.Ala742Val
ENST00000673630.1:c.2225C>T	ENSP00000501073.1:p.Ala742Val
ENST00000673698.1:c.705C>T
ENST00000673711.1:c.2225C>T	ENSP00000501022.1:p.Ala742Val
ENST00000674074.1:n.1370C>T
ENST00000233072.9:c.2225C>T	ENSP00000233072.5:p.Ala742Val
ENST00000430249.6:c.2243C>T	ENSP00000402608.2:p.Ala748Val
ENST00000451903.2:c.872C>T	ENSP00000406136.2:p.Ala291Val
NM_001122633.2:c.2243C>T	NP_001116105.1:p.Ala748Val
NM_001122634.3:c.872C>T	NP_001116106.1:p.Ala291Val
NM_001875.4:c.2225C>T , LRG_336t1:c.2225C>T	NP_001866.2:p.Ala742Val
XM_011510640.1:c.2258C>T	XP_011508942.1:p.Ala753Val
XM_011510641.1:c.2225C>T	XP_011508943.1:p.Ala742Val
XM_011510642.1:c.2225C>T	XP_011508944.1:p.Ala742Val
XM_011510643.1:c.2225C>T	XP_011508945.1:p.Ala742Val
XM_011510644.1:c.2225C>T	XP_011508946.1:p.Ala742Val
NM_001122633.3:c.2225C>T	NP_001116105.2:p.Ala742Val
NM_001369256.1:c.2258C>T	NP_001356185.1:p.Ala753Val
NM_001369257.1:c.2225C>T	NP_001356186.1:p.Ala742Val
NM_001875.5:c.2225C>T MANE Select	NP_001866.2:p.Ala742Val
NR_161225.1:n.3134C>T
NR_163592.1:n.1381C>T