Canonical Allele Identifier: CA350439437

Gene: CPS1

Linked Data

• ClinVar Variation Id: 983623
• ClinVar RCV Id: RCV001263623
• dbSNP Id: rs1574586310
• MyVariant Identifiers: chr2:g.211473093T>A (hg19) ; chr2:g.210608369T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608369T>A , CM000664.2:g.210608369T>A	GRCh38
NC_000002.11:g.211473093T>A , CM000664.1:g.211473093T>A	GRCh37
NC_000002.10:g.211181338T>A	NCBI36
NG_008285.1:g.135685T>A , LRG_336:g.135685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2201T>A MANE Select	ENSP00000233072.5:p.Leu734Ter
ENST00000430249.7:c.2219T>A	ENSP00000402608.2:p.Leu740Ter
ENST00000451903.3:c.848T>A	ENSP00000406136.2:p.Leu283Ter
ENST00000673510.1:c.2201T>A	ENSP00000500537.1:p.Leu734Ter
ENST00000673630.1:c.2201T>A	ENSP00000501073.1:p.Leu734Ter
ENST00000673698.1:c.681T>A
ENST00000673711.1:c.2201T>A	ENSP00000501022.1:p.Leu734Ter
ENST00000674074.1:n.1346T>A
ENST00000233072.9:c.2201T>A	ENSP00000233072.5:p.Leu734Ter
ENST00000430249.6:c.2219T>A	ENSP00000402608.2:p.Leu740Ter
ENST00000451903.2:c.848T>A	ENSP00000406136.2:p.Leu283Ter
NM_001122633.2:c.2219T>A	NP_001116105.1:p.Leu740Ter
NM_001122634.3:c.848T>A	NP_001116106.1:p.Leu283Ter
NM_001875.4:c.2201T>A , LRG_336t1:c.2201T>A	NP_001866.2:p.Leu734Ter
XM_011510640.1:c.2234T>A	XP_011508942.1:p.Leu745Ter
XM_011510641.1:c.2201T>A	XP_011508943.1:p.Leu734Ter
XM_011510642.1:c.2201T>A	XP_011508944.1:p.Leu734Ter
XM_011510643.1:c.2201T>A	XP_011508945.1:p.Leu734Ter
XM_011510644.1:c.2201T>A	XP_011508946.1:p.Leu734Ter
NM_001122633.3:c.2201T>A	NP_001116105.2:p.Leu734Ter
NM_001369256.1:c.2234T>A	NP_001356185.1:p.Leu745Ter
NM_001369257.1:c.2201T>A	NP_001356186.1:p.Leu734Ter
NM_001875.5:c.2201T>A MANE Select	NP_001866.2:p.Leu734Ter
NR_161225.1:n.3110T>A
NR_163592.1:n.1357T>A