Canonical Allele Identifier: CA1325080069
Gene: CPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210608520A= , CM000664.2:g.210608520A= GRCh38
NC_000002.11:g.211473244A= , CM000664.1:g.211473244A= GRCh37
NC_000002.10:g.211181489A= NCBI36
NG_008285.1:g.135836A= , LRG_336:g.135836A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.2352A= MANE Select ENSP00000233072.5:p.Thr784=
ENST00000430249.7:c.2370A= ENSP00000402608.2:p.Thr790=
ENST00000451903.3:c.999A= ENSP00000406136.2:p.Thr333=
ENST00000673510.1:c.2352A= ENSP00000500537.1:p.Thr784=
ENST00000673630.1:c.2352A= ENSP00000501073.1:p.Thr784=
ENST00000673698.1:c.832A=
ENST00000673711.1:c.2352A= ENSP00000501022.1:p.Thr784=
ENST00000674074.1:n.1497A=
ENST00000233072.9:c.2352A= ENSP00000233072.5:p.Thr784=
ENST00000430249.6:c.2370A= ENSP00000402608.2:p.Thr790=
ENST00000451903.2:c.999A= ENSP00000406136.2:p.Thr333=
NM_001122633.2:c.2370A= NP_001116105.1:p.Thr790=
NM_001122634.3:c.999A= NP_001116106.1:p.Thr333=
NM_001875.4:c.2352A= , LRG_336t1:c.2352A= NP_001866.2:p.Thr784=
XM_011510640.1:c.2385A= XP_011508942.1:p.Thr795=
XM_011510641.1:c.2352A= XP_011508943.1:p.Thr784=
XM_011510642.1:c.2352A= XP_011508944.1:p.Thr784=
XM_011510643.1:c.2352A= XP_011508945.1:p.Thr784=
XM_011510644.1:c.2352A= XP_011508946.1:p.Thr784=
NM_001122633.3:c.2352A= NP_001116105.2:p.Thr784=
NM_001369256.1:c.2385A= NP_001356185.1:p.Thr795=
NM_001369257.1:c.2352A= NP_001356186.1:p.Thr784=
NM_001875.5:c.2352A= MANE Select NP_001866.2:p.Thr784=
NR_161225.1:n.3261A=
NR_163592.1:n.1508A=