Canonical Allele Identifier: CA1325109769
Gene: CPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210675691T= , CM000664.2:g.210675691T= GRCh38
NC_000002.11:g.211540415T= , CM000664.1:g.211540415T= GRCh37
NC_000002.10:g.211248660T= NCBI36
NG_008285.1:g.203007T= , LRG_336:g.203007T=

Transcript Alleles

HGVS Amino-acid change
ENST00000233072.10:c.4162-37T= MANE Select ENSP00000233072.5:n.4162-37T=
ENST00000430249.7:c.4180-37T= ENSP00000402608.2:n.4180-37T=
ENST00000451903.3:c.2809-37T= ENSP00000406136.2:n.2809-37T=
ENST00000645825.1:n.827-37T=
ENST00000671984.1:n.310-37T=
ENST00000673510.1:c.4162-37T= ENSP00000500537.1:n.4162-37T=
ENST00000673630.1:c.4162-37T= ENSP00000501073.1:n.4162-37T=
ENST00000673698.1:c.2785-37T=
ENST00000673711.1:c.4162-37T= ENSP00000501022.1:n.4162-37T=
ENST00000674074.1:n.3307-37T=
ENST00000233072.9:c.4162-37T= ENSP00000233072.5:n.4162-37T=
ENST00000430249.6:c.4180-37T= ENSP00000402608.2:n.4180-37T=
ENST00000451903.2:c.2809-37T= ENSP00000406136.2:n.2809-37T=
ENST00000479988.1:n.3348-37T=
NM_001122633.2:c.4180-37T= NP_001116105.1:n.4180-37T=
NM_001122634.3:c.2809-37T= NP_001116106.1:n.2809-37T=
NM_001875.4:c.4162-37T= , LRG_336t1:c.4162-37T= NP_001866.2:n.4162-37T=
XM_011510640.1:c.4195-37T= XP_011508942.1:n.4195-37T=
XM_011510641.1:c.4162-37T= XP_011508943.1:n.4162-37T=
XM_011510642.1:c.4162-37T= XP_011508944.1:n.4162-37T=
XM_011510643.1:c.4162-37T= XP_011508945.1:n.4162-37T=
XM_011510644.1:c.4162-37T= XP_011508946.1:n.4162-37T=
NM_001122633.3:c.4162-37T= NP_001116105.2:n.4162-37T=
NM_001369256.1:c.4195-37T= NP_001356185.1:n.4195-37T=
NM_001369257.1:c.4162-37T= NP_001356186.1:n.4162-37T=
NM_001875.5:c.4162-37T= MANE Select NP_001866.2:n.4162-37T=
NR_161225.1:n.5071-37T=
NR_163592.1:n.3318-37T=