Canonical Allele Identifier: CA1325109811
Gene: CPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210675762A= , CM000664.2:g.210675762A= GRCh38
NC_000002.11:g.211540486A= , CM000664.1:g.211540486A= GRCh37
NC_000002.10:g.211248731A= NCBI36
NG_008285.1:g.203078A= , LRG_336:g.203078A=

Transcript Alleles

HGVS Amino-acid Change
NM_001875.5:c.4196A= MANE Select NP_001866.2:p.Asn1399=
ENST00000233072.10:c.4196A= MANE Select ENSP00000233072.5:p.Asn1399=
NM_001122633.2:c.4214A= NP_001116105.1:p.Asn1405=
NM_001122633.3:c.4196A= NP_001116105.2:p.Asn1399=
NM_001122634.3:c.2843A= NP_001116106.1:p.Asn948=
NM_001369256.1:c.4229A= NP_001356185.1:p.Asn1410=
NM_001369257.1:c.4196A= NP_001356186.1:p.Asn1399=
NM_001875.4:c.4196A= , LRG_336t1:c.4196A= NP_001866.2:p.Asn1399=
NR_161225.1:n.5105A=
NR_163592.1:n.3352A=
ENST00000233072.9:c.4196A= ENSP00000233072.5:p.Asn1399=
ENST00000430249.6:c.4214A= ENSP00000402608.2:p.Asn1405=
ENST00000430249.7:c.4214A= ENSP00000402608.2:p.Asn1405=
ENST00000451903.2:c.2843A= ENSP00000406136.2:p.Asn948=
ENST00000451903.3:c.2843A= ENSP00000406136.2:p.Asn948=
ENST00000479988.1:n.3382A=
ENST00000645825.1:n.861A=
ENST00000671984.1:n.344A=
ENST00000673510.1:c.4196A= ENSP00000500537.1:p.Asn1399=
ENST00000673630.1:c.4196A= ENSP00000501073.1:p.Asn1399=
ENST00000673698.1:c.2819A=
ENST00000673711.1:c.4196A= ENSP00000501022.1:p.Asn1399=
ENST00000674074.1:n.3341A=
XM_011510640.1:c.4229A= XP_011508942.1:p.Asn1410=
XM_011510641.1:c.4196A= XP_011508943.1:p.Asn1399=
XM_011510642.1:c.4196A= XP_011508944.1:p.Asn1399=
XM_011510643.1:c.4196A= XP_011508945.1:p.Asn1399=
XM_011510644.1:c.4196A= XP_011508946.1:p.Asn1399=