Canonical Allele Identifier: CA2086140

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210590178G>A , CM000664.2:g.210590178G>A	GRCh38
NC_000002.11:g.211454902G>A , CM000664.1:g.211454902G>A	GRCh37
NC_000002.10:g.211163147G>A	NCBI36
NG_008285.1:g.117494G>A , LRG_336:g.117494G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001875.5:c.784G>A MANE Select	NP_001866.2:p.Ala262Thr
ENST00000233072.10:c.784G>A MANE Select	ENSP00000233072.5:p.Ala262Thr
NM_001122633.2:c.802G>A	NP_001116105.1:p.Ala268Thr
NM_001122633.3:c.784G>A	NP_001116105.2:p.Ala262Thr
NM_001369256.1:c.817G>A	NP_001356185.1:p.Ala273Thr
NM_001369257.1:c.784G>A	NP_001356186.1:p.Ala262Thr
NM_001875.4:c.784G>A , LRG_336t1:c.784G>A	NP_001866.2:p.Ala262Thr
NR_161225.1:n.1696G>A
ENST00000233072.9:c.784G>A	ENSP00000233072.5:p.Ala262Thr
ENST00000430249.6:c.802G>A	ENSP00000402608.2:p.Ala268Thr
ENST00000430249.7:c.802G>A	ENSP00000402608.2:p.Ala268Thr
ENST00000619804.1:c.784G>A	ENSP00000480517.1:p.Ala262Thr
ENST00000673510.1:c.784G>A	ENSP00000500537.1:p.Ala262Thr
ENST00000673630.1:c.784G>A	ENSP00000501073.1:p.Ala262Thr
ENST00000673711.1:c.784G>A	ENSP00000501022.1:p.Ala262Thr
XM_011510640.1:c.817G>A	XP_011508942.1:p.Ala273Thr
XM_011510641.1:c.784G>A	XP_011508943.1:p.Ala262Thr
XM_011510642.1:c.784G>A	XP_011508944.1:p.Ala262Thr
XM_011510643.1:c.784G>A	XP_011508945.1:p.Ala262Thr
XM_011510644.1:c.784G>A	XP_011508946.1:p.Ala262Thr