Canonical Allele Identifier: CA1325080071
Gene: CPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210608523T= , CM000664.2:g.210608523T= GRCh38
NC_000002.11:g.211473247T= , CM000664.1:g.211473247T= GRCh37
NC_000002.10:g.211181492T= NCBI36
NG_008285.1:g.135839T= , LRG_336:g.135839T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.2355T= MANE Select ENSP00000233072.5:p.Ser785=
ENST00000430249.7:c.2373T= ENSP00000402608.2:p.Ser791=
ENST00000451903.3:c.1002T= ENSP00000406136.2:p.Ser334=
ENST00000673510.1:c.2355T= ENSP00000500537.1:p.Ser785=
ENST00000673630.1:c.2355T= ENSP00000501073.1:p.Ser785=
ENST00000673698.1:c.835T=
ENST00000673711.1:c.2355T= ENSP00000501022.1:p.Ser785=
ENST00000674074.1:n.1500T=
ENST00000233072.9:c.2355T= ENSP00000233072.5:p.Ser785=
ENST00000430249.6:c.2373T= ENSP00000402608.2:p.Ser791=
ENST00000451903.2:c.1002T= ENSP00000406136.2:p.Ser334=
NM_001122633.2:c.2373T= NP_001116105.1:p.Ser791=
NM_001122634.3:c.1002T= NP_001116106.1:p.Ser334=
NM_001875.4:c.2355T= , LRG_336t1:c.2355T= NP_001866.2:p.Ser785=
XM_011510640.1:c.2388T= XP_011508942.1:p.Ser796=
XM_011510641.1:c.2355T= XP_011508943.1:p.Ser785=
XM_011510642.1:c.2355T= XP_011508944.1:p.Ser785=
XM_011510643.1:c.2355T= XP_011508945.1:p.Ser785=
XM_011510644.1:c.2355T= XP_011508946.1:p.Ser785=
NM_001122633.3:c.2355T= NP_001116105.2:p.Ser785=
NM_001369256.1:c.2388T= NP_001356185.1:p.Ser796=
NM_001369257.1:c.2355T= NP_001356186.1:p.Ser785=
NM_001875.5:c.2355T= MANE Select NP_001866.2:p.Ser785=
NR_161225.1:n.3264T=
NR_163592.1:n.1511T=