Canonical Allele Identifier: CA1325110865

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210678331T= , CM000664.2:g.210678331T=	GRCh38
NC_000002.11:g.211543055T= , CM000664.1:g.211543055T=	GRCh37
NC_000002.10:g.211251300T=	NCBI36
NG_008285.1:g.205647T= , LRG_336:g.205647T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.*346T= MANE Select	ENSP00000233072.5:n.*346T=
ENST00000430249.7:c.*346T=	ENSP00000402608.2:n.*346T=
ENST00000451903.3:c.*346T=	ENSP00000406136.2:n.*346T=
ENST00000645825.1:n.1514T=
ENST00000673630.1:c.*346T=	ENSP00000501073.1:n.*346T=
ENST00000673698.1:c.3472T=
ENST00000673711.1:c.*346T=	ENSP00000501022.1:n.*346T=
ENST00000674074.1:n.3994T=
ENST00000233072.9:c.*346T=	ENSP00000233072.5:n.*346T=
ENST00000430249.6:c.*346T=	ENSP00000402608.2:n.*346T=
ENST00000451903.2:c.*346T=	ENSP00000406136.2:n.*346T=
ENST00000479988.1:n.4035T=
NM_001122633.2:c.*346T=	NP_001116105.1:n.*346T=
NM_001122634.3:c.*346T=	NP_001116106.1:n.*346T=
NM_001875.4:c.*346T= , LRG_336t1:c.*346T=	NP_001866.2:n.*346T=
XM_011510640.1:c.*346T=	XP_011508942.1:n.*346T=
XM_011510641.1:c.*346T=	XP_011508943.1:n.*346T=
XM_011510642.1:c.*346T=	XP_011508944.1:n.*346T=
XM_011510643.1:c.*346T=	XP_011508945.1:n.*346T=
XM_011510644.1:c.*346T=	XP_011508946.1:n.*346T=
NM_001122633.3:c.*346T=	NP_001116105.2:n.*346T=
NM_001369256.1:c.*346T=	NP_001356185.1:n.*346T=
NM_001369257.1:c.*346T=	NP_001356186.1:n.*346T=
NM_001875.5:c.*346T= MANE Select	NP_001866.2:n.*346T=
NR_161225.1:n.5758T=
NR_163592.1:n.4005T=