Canonical Allele Identifier: CA2086585
Gene: CPS1 HGNC NCBI

Linked Data

dbSNP Id: rs756648544

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210608361C>G , CM000664.2:g.210608361C>G GRCh38
NC_000002.11:g.211473085C>G , CM000664.1:g.211473085C>G GRCh37
NC_000002.10:g.211181330C>G NCBI36
NG_008285.1:g.135677C>G , LRG_336:g.135677C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.2193C>G MANE Select ENSP00000233072.5:p.Gly731=
ENST00000430249.7:c.2211C>G ENSP00000402608.2:p.Gly737=
ENST00000451903.3:c.840C>G ENSP00000406136.2:p.Gly280=
ENST00000673510.1:c.2193C>G ENSP00000500537.1:p.Gly731=
ENST00000673630.1:c.2193C>G ENSP00000501073.1:p.Gly731=
ENST00000673698.1:c.673C>G
ENST00000673711.1:c.2193C>G ENSP00000501022.1:p.Gly731=
ENST00000674074.1:n.1338C>G
ENST00000233072.9:c.2193C>G ENSP00000233072.5:p.Gly731=
ENST00000430249.6:c.2211C>G ENSP00000402608.2:p.Gly737=
ENST00000451903.2:c.840C>G ENSP00000406136.2:p.Gly280=
NM_001122633.2:c.2211C>G NP_001116105.1:p.Gly737=
NM_001122634.3:c.840C>G NP_001116106.1:p.Gly280=
NM_001875.4:c.2193C>G , LRG_336t1:c.2193C>G NP_001866.2:p.Gly731=
XM_011510640.1:c.2226C>G XP_011508942.1:p.Gly742=
XM_011510641.1:c.2193C>G XP_011508943.1:p.Gly731=
XM_011510642.1:c.2193C>G XP_011508944.1:p.Gly731=
XM_011510643.1:c.2193C>G XP_011508945.1:p.Gly731=
XM_011510644.1:c.2193C>G XP_011508946.1:p.Gly731=
NM_001122633.3:c.2193C>G NP_001116105.2:p.Gly731=
NM_001369256.1:c.2226C>G NP_001356185.1:p.Gly742=
NM_001369257.1:c.2193C>G NP_001356186.1:p.Gly731=
NM_001875.5:c.2193C>G MANE Select NP_001866.2:p.Gly731=
NR_161225.1:n.3102C>G
NR_163592.1:n.1349C>G