Canonical Allele Identifier: CA431012243

Gene: CPS1

Linked Data

• MyVariant Identifiers: chr2:g.211465364A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210600640A>G , CM000664.2:g.210600640A>G	GRCh38
NC_000002.11:g.211465364A>G , CM000664.1:g.211465364A>G	GRCh37
NC_000002.10:g.211173609A>G	NCBI36
NG_008285.1:g.127956A>G , LRG_336:g.127956A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233072.10:c.1635A>G MANE Select	ENSP00000233072.5:p.Glu545=
ENST00000430249.7:c.1653A>G	ENSP00000402608.2:p.Glu551=
ENST00000451903.3:c.282A>G	ENSP00000406136.2:p.Glu94=
ENST00000673510.1:c.1635A>G	ENSP00000500537.1:p.Glu545=
ENST00000673630.1:c.1635A>G	ENSP00000501073.1:p.Glu545=
ENST00000673698.1:c.115A>G
ENST00000673711.1:c.1635A>G	ENSP00000501022.1:p.Glu545=
ENST00000674074.1:n.780A>G
ENST00000233072.9:c.1635A>G	ENSP00000233072.5:p.Glu545=
ENST00000430249.6:c.1653A>G	ENSP00000402608.2:p.Glu551=
ENST00000451903.2:c.282A>G	ENSP00000406136.2:p.Glu94=
NM_001122633.2:c.1653A>G	NP_001116105.1:p.Glu551=
NM_001122634.3:c.282A>G	NP_001116106.1:p.Glu94=
NM_001875.4:c.1635A>G , LRG_336t1:c.1635A>G	NP_001866.2:p.Glu545=
XM_011510640.1:c.1668A>G	XP_011508942.1:p.Glu556=
XM_011510641.1:c.1635A>G	XP_011508943.1:p.Glu545=
XM_011510642.1:c.1635A>G	XP_011508944.1:p.Glu545=
XM_011510643.1:c.1635A>G	XP_011508945.1:p.Glu545=
XM_011510644.1:c.1635A>G	XP_011508946.1:p.Glu545=
NM_001122633.3:c.1635A>G	NP_001116105.2:p.Glu545=
NM_001369256.1:c.1668A>G	NP_001356185.1:p.Glu556=
NM_001369257.1:c.1635A>G	NP_001356186.1:p.Glu545=
NM_001875.5:c.1635A>G MANE Select	NP_001866.2:p.Glu545=
NR_161225.1:n.2544A>G
NR_163592.1:n.791A>G