Canonical Allele Identifier: CA350439529

Gene: CPS1

Linked Data

• MyVariant Identifiers: chr2:g.211473138A>C (hg19) ; chr2:g.210608414A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608414A>C , CM000664.2:g.210608414A>C	GRCh38
NC_000002.11:g.211473138A>C , CM000664.1:g.211473138A>C	GRCh37
NC_000002.10:g.211181383A>C	NCBI36
NG_008285.1:g.135730A>C , LRG_336:g.135730A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2246A>C MANE Select	ENSP00000233072.5:p.Glu749Ala
ENST00000430249.7:c.2264A>C	ENSP00000402608.2:p.Glu755Ala
ENST00000451903.3:c.893A>C	ENSP00000406136.2:p.Glu298Ala
ENST00000673510.1:c.2246A>C	ENSP00000500537.1:p.Glu749Ala
ENST00000673630.1:c.2246A>C	ENSP00000501073.1:p.Glu749Ala
ENST00000673698.1:c.726A>C
ENST00000673711.1:c.2246A>C	ENSP00000501022.1:p.Glu749Ala
ENST00000674074.1:n.1391A>C
ENST00000233072.9:c.2246A>C	ENSP00000233072.5:p.Glu749Ala
ENST00000430249.6:c.2264A>C	ENSP00000402608.2:p.Glu755Ala
ENST00000451903.2:c.893A>C	ENSP00000406136.2:p.Glu298Ala
NM_001122633.2:c.2264A>C	NP_001116105.1:p.Glu755Ala
NM_001122634.3:c.893A>C	NP_001116106.1:p.Glu298Ala
NM_001875.4:c.2246A>C , LRG_336t1:c.2246A>C	NP_001866.2:p.Glu749Ala
XM_011510640.1:c.2279A>C	XP_011508942.1:p.Glu760Ala
XM_011510641.1:c.2246A>C	XP_011508943.1:p.Glu749Ala
XM_011510642.1:c.2246A>C	XP_011508944.1:p.Glu749Ala
XM_011510643.1:c.2246A>C	XP_011508945.1:p.Glu749Ala
XM_011510644.1:c.2246A>C	XP_011508946.1:p.Glu749Ala
NM_001122633.3:c.2246A>C	NP_001116105.2:p.Glu749Ala
NM_001369256.1:c.2279A>C	NP_001356185.1:p.Glu760Ala
NM_001369257.1:c.2246A>C	NP_001356186.1:p.Glu749Ala
NM_001875.5:c.2246A>C MANE Select	NP_001866.2:p.Glu749Ala
NR_161225.1:n.3155A>C
NR_163592.1:n.1402A>C