Canonical Allele Identifier: CA431011563
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1593260
ClinVar RCV Id: RCV002112740
dbSNP Id: rs2106111216
MyVariant Identifiers: chr2:g.211456645T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210591921T>G , CM000664.2:g.210591921T>G GRCh38
NC_000002.11:g.211456645T>G , CM000664.1:g.211456645T>G GRCh37
NC_000002.10:g.211164890T>G NCBI36
NG_008285.1:g.119237T>G , LRG_336:g.119237T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.1038T>G MANE Select ENSP00000233072.5:p.Pro346=
ENST00000430249.7:c.1056T>G ENSP00000402608.2:p.Pro352=
ENST00000673510.1:c.1038T>G ENSP00000500537.1:p.Pro346=
ENST00000673630.1:c.1038T>G ENSP00000501073.1:p.Pro346=
ENST00000673711.1:c.1038T>G ENSP00000501022.1:p.Pro346=
ENST00000233072.9:c.1038T>G ENSP00000233072.5:p.Pro346=
ENST00000430249.6:c.1056T>G ENSP00000402608.2:p.Pro352=
ENST00000619804.1:c.1038T>G ENSP00000480517.1:p.Pro346=
NM_001122633.2:c.1056T>G NP_001116105.1:p.Pro352=
NM_001875.4:c.1038T>G , LRG_336t1:c.1038T>G NP_001866.2:p.Pro346=
XM_011510640.1:c.1071T>G XP_011508942.1:p.Pro357=
XM_011510641.1:c.1038T>G XP_011508943.1:p.Pro346=
XM_011510642.1:c.1038T>G XP_011508944.1:p.Pro346=
XM_011510643.1:c.1038T>G XP_011508945.1:p.Pro346=
XM_011510644.1:c.1038T>G XP_011508946.1:p.Pro346=
NM_001122633.3:c.1038T>G NP_001116105.2:p.Pro346=
NM_001369256.1:c.1071T>G NP_001356185.1:p.Pro357=
NM_001369257.1:c.1038T>G NP_001356186.1:p.Pro346=
NM_001875.5:c.1038T>G MANE Select NP_001866.2:p.Pro346=
NR_161225.1:n.1950T>G