Canonical Allele Identifier: CA115532
Gene: CPS1 HGNC NCBI

Linked Data

dbSNP Id: rs121912594
MyVariant Identifiers: chr2:g.211540486A>C (hg19) chr2:g.210675762A>C (hg38)
PubMed: PMID:11407344 PMID:14718356 PMID:15465784 PMID:16708072 PMID:20154341 PMID:21767969
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000233072.10:c.4196A>C MANE Select ENSP00000233072.5:p.Asn1399Thr
ENST00000430249.7:c.4214A>C ENSP00000402608.2:p.Asn1405Thr
ENST00000451903.3:c.2843A>C ENSP00000406136.2:p.Asn948Thr
ENST00000645825.1:n.861A>C
ENST00000671984.1:n.344A>C
ENST00000673510.1:c.4196A>C ENSP00000500537.1:p.Asn1399Thr
ENST00000673630.1:c.4196A>C ENSP00000501073.1:p.Asn1399Thr
ENST00000673698.1:c.2819A>C
ENST00000673711.1:c.4196A>C ENSP00000501022.1:p.Asn1399Thr
ENST00000674074.1:n.3341A>C
ENST00000233072.9:c.4196A>C ENSP00000233072.5:p.Asn1399Thr
ENST00000430249.6:c.4214A>C ENSP00000402608.2:p.Asn1405Thr
ENST00000451903.2:c.2843A>C ENSP00000406136.2:p.Asn948Thr
ENST00000479988.1:n.3382A>C
NM_001122633.2:c.4214A>C NP_001116105.1:p.Asn1405Thr
NM_001122634.3:c.2843A>C NP_001116106.1:p.Asn948Thr
NM_001875.4:c.4196A>C , LRG_336t1:c.4196A>C NP_001866.2:p.Asn1399Thr
XM_011510640.1:c.4229A>C XP_011508942.1:p.Asn1410Thr
XM_011510641.1:c.4196A>C XP_011508943.1:p.Asn1399Thr
XM_011510642.1:c.4196A>C XP_011508944.1:p.Asn1399Thr
XM_011510643.1:c.4196A>C XP_011508945.1:p.Asn1399Thr
XM_011510644.1:c.4196A>C XP_011508946.1:p.Asn1399Thr
NM_001122633.3:c.4196A>C NP_001116105.2:p.Asn1399Thr
NM_001369256.1:c.4229A>C NP_001356185.1:p.Asn1410Thr
NM_001369257.1:c.4196A>C NP_001356186.1:p.Asn1399Thr
NM_001875.5:c.4196A>C MANE Select NP_001866.2:p.Asn1399Thr
NR_161225.1:n.5105A>C
NR_163592.1:n.3352A>C
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