Canonical Allele Identifier: CA10614077
Gene: CPS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.210678331T>C
GRCh37 chr2:g.211543055T>C
gnomAD v2:
2:211543055 T / C
gnomAD v3:
2:210678331 T / C
gnomAD v4:
chr2-210678331-T-C
Joint Max Group AF 0.30679996 (NFE)
Genomes Max Group AF 0.31018281 (NFE)
Exomes Max Group AF 0.30352989 (NFE)
ClinVar RCV:
RCV000343467
ClinVar Variation:
334042
dbSNP:
715
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210678331T>C , CM000664.2:g.210678331T>C GRCh38
NC_000002.11:g.211543055T>C , CM000664.1:g.211543055T>C GRCh37
NC_000002.10:g.211251300T>C NCBI36
NG_008285.1:g.205647T>C , LRG_336:g.205647T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.*346T>C MANE Select ENSP00000233072.5:n.*346T>C
ENST00000430249.7:c.*346T>C ENSP00000402608.2:n.*346T>C
ENST00000451903.3:c.*346T>C ENSP00000406136.2:n.*346T>C
ENST00000645825.1:n.1514T>C
ENST00000673630.1:c.*346T>C ENSP00000501073.1:n.*346T>C
ENST00000673698.1:c.3472T>C
ENST00000673711.1:c.*346T>C ENSP00000501022.1:n.*346T>C
ENST00000674074.1:n.3994T>C
ENST00000233072.9:c.*346T>C ENSP00000233072.5:n.*346T>C
ENST00000430249.6:c.*346T>C ENSP00000402608.2:n.*346T>C
ENST00000451903.2:c.*346T>C ENSP00000406136.2:n.*346T>C
ENST00000479988.1:n.4035T>C
NM_001122633.2:c.*346T>C NP_001116105.1:n.*346T>C
NM_001122634.3:c.*346T>C NP_001116106.1:n.*346T>C
NM_001875.4:c.*346T>C , LRG_336t1:c.*346T>C NP_001866.2:n.*346T>C
XM_011510640.1:c.*346T>C XP_011508942.1:n.*346T>C
XM_011510641.1:c.*346T>C XP_011508943.1:n.*346T>C
XM_011510642.1:c.*346T>C XP_011508944.1:n.*346T>C
XM_011510643.1:c.*346T>C XP_011508945.1:n.*346T>C
XM_011510644.1:c.*346T>C XP_011508946.1:n.*346T>C
NM_001122633.3:c.*346T>C NP_001116105.2:n.*346T>C
NM_001369256.1:c.*346T>C NP_001356185.1:n.*346T>C
NM_001369257.1:c.*346T>C NP_001356186.1:n.*346T>C
NM_001875.5:c.*346T>C MANE Select NP_001866.2:n.*346T>C
NR_161225.1:n.5758T>C
NR_163592.1:n.4005T>C
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