Canonical Allele Identifier: CA1325072822
Gene: CPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210591817C= , CM000664.2:g.210591817C= GRCh38
NC_000002.11:g.211456541C= , CM000664.1:g.211456541C= GRCh37
NC_000002.10:g.211164786C= NCBI36
NG_008285.1:g.119133C= , LRG_336:g.119133C=

Transcript Alleles

HGVS Amino-acid change
ENST00000233072.10:c.948-14C= MANE Select ENSP00000233072.5:n.948-14C=
ENST00000430249.7:c.966-14C= ENSP00000402608.2:n.966-14C=
ENST00000673510.1:c.948-14C= ENSP00000500537.1:n.948-14C=
ENST00000673630.1:c.948-14C= ENSP00000501073.1:n.948-14C=
ENST00000673711.1:c.948-14C= ENSP00000501022.1:n.948-14C=
ENST00000233072.9:c.948-14C= ENSP00000233072.5:n.948-14C=
ENST00000430249.6:c.966-14C= ENSP00000402608.2:n.966-14C=
ENST00000619804.1:c.948-14C= ENSP00000480517.1:n.948-14C=
NM_001122633.2:c.966-14C= NP_001116105.1:n.966-14C=
NM_001875.4:c.948-14C= , LRG_336t1:c.948-14C= NP_001866.2:n.948-14C=
XM_011510640.1:c.981-14C= XP_011508942.1:n.981-14C=
XM_011510641.1:c.948-14C= XP_011508943.1:n.948-14C=
XM_011510642.1:c.948-14C= XP_011508944.1:n.948-14C=
XM_011510643.1:c.948-14C= XP_011508945.1:n.948-14C=
XM_011510644.1:c.948-14C= XP_011508946.1:n.948-14C=
NM_001122633.3:c.948-14C= NP_001116105.2:n.948-14C=
NM_001369256.1:c.981-14C= NP_001356185.1:n.981-14C=
NM_001369257.1:c.948-14C= NP_001356186.1:n.948-14C=
NM_001875.5:c.948-14C= MANE Select NP_001866.2:n.948-14C=
NR_161225.1:n.1860-14C=