Canonical Allele Identifier: CA1325109821

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675783C= , CM000664.2:g.210675783C=	GRCh38
NC_000002.11:g.211540507C= , CM000664.1:g.211540507C=	GRCh37
NC_000002.10:g.211248752C=	NCBI36
NG_008285.1:g.203099C= , LRG_336:g.203099C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001875.5:c.4217C= MANE Select	NP_001866.2:p.Thr1406=
ENST00000233072.10:c.4217C= MANE Select	ENSP00000233072.5:p.Thr1406=
NM_001122633.2:c.4235C=	NP_001116105.1:p.Thr1412=
NM_001122633.3:c.4217C=	NP_001116105.2:p.Thr1406=
NM_001122634.3:c.2864C=	NP_001116106.1:p.Thr955=
NM_001369256.1:c.4250C=	NP_001356185.1:p.Thr1417=
NM_001369257.1:c.4217C=	NP_001356186.1:p.Thr1406=
NM_001875.4:c.4217C= , LRG_336t1:c.4217C=	NP_001866.2:p.Thr1406=
NR_161225.1:n.5126C=
NR_163592.1:n.3373C=
ENST00000233072.9:c.4217C=	ENSP00000233072.5:p.Thr1406=
ENST00000430249.6:c.4235C=	ENSP00000402608.2:p.Thr1412=
ENST00000430249.7:c.4235C=	ENSP00000402608.2:p.Thr1412=
ENST00000451903.2:c.2864C=	ENSP00000406136.2:p.Thr955=
ENST00000451903.3:c.2864C=	ENSP00000406136.2:p.Thr955=
ENST00000479988.1:n.3403C=
ENST00000645825.1:n.882C=
ENST00000671984.1:n.365C=
ENST00000673510.1:c.4217C=	ENSP00000500537.1:p.Thr1406=
ENST00000673630.1:c.4217C=	ENSP00000501073.1:p.Thr1406=
ENST00000673698.1:c.2840C=
ENST00000673711.1:c.4217C=	ENSP00000501022.1:p.Thr1406=
ENST00000674074.1:n.3362C=
XM_011510640.1:c.4250C=	XP_011508942.1:p.Thr1417=
XM_011510641.1:c.4217C=	XP_011508943.1:p.Thr1406=
XM_011510642.1:c.4217C=	XP_011508944.1:p.Thr1406=
XM_011510643.1:c.4217C=	XP_011508945.1:p.Thr1406=
XM_011510644.1:c.4217C=	XP_011508946.1:p.Thr1406=