Canonical Allele Identifier: CA16617422
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420051
ClinVar RCV Id: RCV000484453
dbSNP Id: rs1064794258
MyVariant Identifiers: chr2:g.211457602G>T (hg19) chr2:g.210592878G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210592878G>T , CM000664.2:g.210592878G>T GRCh38
NC_000002.11:g.211457602G>T , CM000664.1:g.211457602G>T GRCh37
NC_000002.10:g.211165847G>T NCBI36
NG_008285.1:g.120194G>T , LRG_336:g.120194G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233072.10:c.1087-1G>T MANE Select ENSP00000233072.5:n.1087-1G>T
ENST00000430249.7:c.1105-1G>T ENSP00000402608.2:n.1105-1G>T
ENST00000673510.1:c.1087-1G>T ENSP00000500537.1:n.1087-1G>T
ENST00000673630.1:c.1087-1G>T ENSP00000501073.1:n.1087-1G>T
ENST00000673711.1:c.1087-1G>T ENSP00000501022.1:n.1087-1G>T
ENST00000233072.9:c.1087-1G>T ENSP00000233072.5:n.1087-1G>T
ENST00000430249.6:c.1105-1G>T ENSP00000402608.2:n.1105-1G>T
ENST00000619804.1:c.1087-1G>T ENSP00000480517.1:n.1087-1G>T
NM_001122633.2:c.1105-1G>T NP_001116105.1:n.1105-1G>T
NM_001875.4:c.1087-1G>T , LRG_336t1:c.1087-1G>T NP_001866.2:n.1087-1G>T
XM_011510640.1:c.1120-1G>T XP_011508942.1:n.1120-1G>T
XM_011510641.1:c.1087-1G>T XP_011508943.1:n.1087-1G>T
XM_011510642.1:c.1087-1G>T XP_011508944.1:n.1087-1G>T
XM_011510643.1:c.1087-1G>T XP_011508945.1:n.1087-1G>T
XM_011510644.1:c.1087-1G>T XP_011508946.1:n.1087-1G>T
NM_001122633.3:c.1087-1G>T NP_001116105.2:n.1087-1G>T
NM_001369256.1:c.1120-1G>T NP_001356185.1:n.1120-1G>T
NM_001369257.1:c.1087-1G>T NP_001356186.1:n.1087-1G>T
NM_001875.5:c.1087-1G>T MANE Select NP_001866.2:n.1087-1G>T
NR_161225.1:n.1999-1G>T
Search 100 bp 5'
Search 100 bp 3'