Canonical Allele Identifier: CA350436818

Gene: CPS1

Linked Data

• COSMIC: COSM122336
• MyVariant Identifiers: chr2:g.211465369G>A (hg19) ; chr2:g.210600645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210600645G>A , CM000664.2:g.210600645G>A	GRCh38
NC_000002.11:g.211465369G>A , CM000664.1:g.211465369G>A	GRCh37
NC_000002.10:g.211173614G>A	NCBI36
NG_008285.1:g.127961G>A , LRG_336:g.127961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1640G>A MANE Select	ENSP00000233072.5:p.Arg547Lys
ENST00000430249.7:c.1658G>A	ENSP00000402608.2:p.Arg553Lys
ENST00000451903.3:c.287G>A	ENSP00000406136.2:p.Arg96Lys
ENST00000673510.1:c.1640G>A	ENSP00000500537.1:p.Arg547Lys
ENST00000673630.1:c.1640G>A	ENSP00000501073.1:p.Arg547Lys
ENST00000673698.1:c.120G>A
ENST00000673711.1:c.1640G>A	ENSP00000501022.1:p.Arg547Lys
ENST00000674074.1:n.785G>A
ENST00000233072.9:c.1640G>A	ENSP00000233072.5:p.Arg547Lys
ENST00000430249.6:c.1658G>A	ENSP00000402608.2:p.Arg553Lys
ENST00000451903.2:c.287G>A	ENSP00000406136.2:p.Arg96Lys
NM_001122633.2:c.1658G>A	NP_001116105.1:p.Arg553Lys
NM_001122634.3:c.287G>A	NP_001116106.1:p.Arg96Lys
NM_001875.4:c.1640G>A , LRG_336t1:c.1640G>A	NP_001866.2:p.Arg547Lys
XM_011510640.1:c.1673G>A	XP_011508942.1:p.Arg558Lys
XM_011510641.1:c.1640G>A	XP_011508943.1:p.Arg547Lys
XM_011510642.1:c.1640G>A	XP_011508944.1:p.Arg547Lys
XM_011510643.1:c.1640G>A	XP_011508945.1:p.Arg547Lys
XM_011510644.1:c.1640G>A	XP_011508946.1:p.Arg547Lys
NM_001122633.3:c.1640G>A	NP_001116105.2:p.Arg547Lys
NM_001369256.1:c.1673G>A	NP_001356185.1:p.Arg558Lys
NM_001369257.1:c.1640G>A	NP_001356186.1:p.Arg547Lys
NM_001875.5:c.1640G>A MANE Select	NP_001866.2:p.Arg547Lys
NR_161225.1:n.2549G>A
NR_163592.1:n.796G>A