Canonical Allele Identifier: CA431012811
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1978577
ClinVar RCV Id: RCV002775091
MyVariant Identifiers: chr2:g.211473109A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210608385A>C , CM000664.2:g.210608385A>C GRCh38
NC_000002.11:g.211473109A>C , CM000664.1:g.211473109A>C GRCh37
NC_000002.10:g.211181354A>C NCBI36
NG_008285.1:g.135701A>C , LRG_336:g.135701A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.2217A>C MANE Select ENSP00000233072.5:p.Ala739=
ENST00000430249.7:c.2235A>C ENSP00000402608.2:p.Ala745=
ENST00000451903.3:c.864A>C ENSP00000406136.2:p.Ala288=
ENST00000673510.1:c.2217A>C ENSP00000500537.1:p.Ala739=
ENST00000673630.1:c.2217A>C ENSP00000501073.1:p.Ala739=
ENST00000673698.1:c.697A>C
ENST00000673711.1:c.2217A>C ENSP00000501022.1:p.Ala739=
ENST00000674074.1:n.1362A>C
ENST00000233072.9:c.2217A>C ENSP00000233072.5:p.Ala739=
ENST00000430249.6:c.2235A>C ENSP00000402608.2:p.Ala745=
ENST00000451903.2:c.864A>C ENSP00000406136.2:p.Ala288=
NM_001122633.2:c.2235A>C NP_001116105.1:p.Ala745=
NM_001122634.3:c.864A>C NP_001116106.1:p.Ala288=
NM_001875.4:c.2217A>C , LRG_336t1:c.2217A>C NP_001866.2:p.Ala739=
XM_011510640.1:c.2250A>C XP_011508942.1:p.Ala750=
XM_011510641.1:c.2217A>C XP_011508943.1:p.Ala739=
XM_011510642.1:c.2217A>C XP_011508944.1:p.Ala739=
XM_011510643.1:c.2217A>C XP_011508945.1:p.Ala739=
XM_011510644.1:c.2217A>C XP_011508946.1:p.Ala739=
NM_001122633.3:c.2217A>C NP_001116105.2:p.Ala739=
NM_001369256.1:c.2250A>C NP_001356185.1:p.Ala750=
NM_001369257.1:c.2217A>C NP_001356186.1:p.Ala739=
NM_001875.5:c.2217A>C MANE Select NP_001866.2:p.Ala739=
NR_161225.1:n.3126A>C
NR_163592.1:n.1373A>C