Canonical Allele Identifier: CA1325080021

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608395C= , CM000664.2:g.210608395C=	GRCh38
NC_000002.11:g.211473119C= , CM000664.1:g.211473119C=	GRCh37
NC_000002.10:g.211181364C=	NCBI36
NG_008285.1:g.135711C= , LRG_336:g.135711C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2227C= MANE Select	ENSP00000233072.5:p.Leu743=
ENST00000430249.7:c.2245C=	ENSP00000402608.2:p.Leu749=
ENST00000451903.3:c.874C=	ENSP00000406136.2:p.Leu292=
ENST00000673510.1:c.2227C=	ENSP00000500537.1:p.Leu743=
ENST00000673630.1:c.2227C=	ENSP00000501073.1:p.Leu743=
ENST00000673698.1:c.707C=
ENST00000673711.1:c.2227C=	ENSP00000501022.1:p.Leu743=
ENST00000674074.1:n.1372C=
ENST00000233072.9:c.2227C=	ENSP00000233072.5:p.Leu743=
ENST00000430249.6:c.2245C=	ENSP00000402608.2:p.Leu749=
ENST00000451903.2:c.874C=	ENSP00000406136.2:p.Leu292=
NM_001122633.2:c.2245C=	NP_001116105.1:p.Leu749=
NM_001122634.3:c.874C=	NP_001116106.1:p.Leu292=
NM_001875.4:c.2227C= , LRG_336t1:c.2227C=	NP_001866.2:p.Leu743=
XM_011510640.1:c.2260C=	XP_011508942.1:p.Leu754=
XM_011510641.1:c.2227C=	XP_011508943.1:p.Leu743=
XM_011510642.1:c.2227C=	XP_011508944.1:p.Leu743=
XM_011510643.1:c.2227C=	XP_011508945.1:p.Leu743=
XM_011510644.1:c.2227C=	XP_011508946.1:p.Leu743=
NM_001122633.3:c.2227C=	NP_001116105.2:p.Leu743=
NM_001369256.1:c.2260C=	NP_001356185.1:p.Leu754=
NM_001369257.1:c.2227C=	NP_001356186.1:p.Leu743=
NM_001875.5:c.2227C= MANE Select	NP_001866.2:p.Leu743=
NR_161225.1:n.3136C=
NR_163592.1:n.1383C=