Canonical Allele Identifier: CA1325109823
Gene: CPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210675787A= , CM000664.2:g.210675787A= GRCh38
NC_000002.11:g.211540511A= , CM000664.1:g.211540511A= GRCh37
NC_000002.10:g.211248756A= NCBI36
NG_008285.1:g.203103A= , LRG_336:g.203103A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.4221A= MANE Select ENSP00000233072.5:p.Pro1407=
ENST00000430249.7:c.4239A= ENSP00000402608.2:p.Pro1413=
ENST00000451903.3:c.2868A= ENSP00000406136.2:p.Pro956=
ENST00000645825.1:n.886A=
ENST00000671984.1:n.369A=
ENST00000673510.1:c.4221A= ENSP00000500537.1:p.Pro1407=
ENST00000673630.1:c.4221A= ENSP00000501073.1:p.Pro1407=
ENST00000673698.1:c.2844A=
ENST00000673711.1:c.4221A= ENSP00000501022.1:p.Pro1407=
ENST00000674074.1:n.3366A=
ENST00000233072.9:c.4221A= ENSP00000233072.5:p.Pro1407=
ENST00000430249.6:c.4239A= ENSP00000402608.2:p.Pro1413=
ENST00000451903.2:c.2868A= ENSP00000406136.2:p.Pro956=
ENST00000479988.1:n.3407A=
NM_001122633.2:c.4239A= NP_001116105.1:p.Pro1413=
NM_001122634.3:c.2868A= NP_001116106.1:p.Pro956=
NM_001875.4:c.4221A= , LRG_336t1:c.4221A= NP_001866.2:p.Pro1407=
XM_011510640.1:c.4254A= XP_011508942.1:p.Pro1418=
XM_011510641.1:c.4221A= XP_011508943.1:p.Pro1407=
XM_011510642.1:c.4221A= XP_011508944.1:p.Pro1407=
XM_011510643.1:c.4221A= XP_011508945.1:p.Pro1407=
XM_011510644.1:c.4221A= XP_011508946.1:p.Pro1407=
NM_001122633.3:c.4221A= NP_001116105.2:p.Pro1407=
NM_001369256.1:c.4254A= NP_001356185.1:p.Pro1418=
NM_001369257.1:c.4221A= NP_001356186.1:p.Pro1407=
NM_001875.5:c.4221A= MANE Select NP_001866.2:p.Pro1407=
NR_161225.1:n.5130A=
NR_163592.1:n.3377A=