Canonical Allele Identifier: CA2086580

Gene: CPS1

Linked Data

• ClinVar Variation Id: 1077216
• ClinVar RCV Id: RCV001391725
• dbSNP Id: rs569836557
• ExAC: 2:211473071 T / A
• gnomAD v2: 2-211473071-T-A
• gnomAD v3: 2-210608347-T-A
• gnomAD v4: 2-210608347-T-A
• MyVariant Identifiers: chr2:g.211473071T>A (hg19) ; chr2:g.210608347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608347T>A , CM000664.2:g.210608347T>A	GRCh38
NC_000002.11:g.211473071T>A , CM000664.1:g.211473071T>A	GRCh37
NC_000002.10:g.211181316T>A	NCBI36
NG_008285.1:g.135663T>A , LRG_336:g.135663T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2193-14T>A MANE Select	ENSP00000233072.5:n.2193-14T>A
ENST00000430249.7:c.2211-14T>A	ENSP00000402608.2:n.2211-14T>A
ENST00000451903.3:c.840-14T>A	ENSP00000406136.2:n.840-14T>A
ENST00000673510.1:c.2193-14T>A	ENSP00000500537.1:n.2193-14T>A
ENST00000673630.1:c.2193-14T>A	ENSP00000501073.1:n.2193-14T>A
ENST00000673698.1:c.673-14T>A
ENST00000673711.1:c.2193-14T>A	ENSP00000501022.1:n.2193-14T>A
ENST00000674074.1:n.1338-14T>A
ENST00000233072.9:c.2193-14T>A	ENSP00000233072.5:n.2193-14T>A
ENST00000430249.6:c.2211-14T>A	ENSP00000402608.2:n.2211-14T>A
ENST00000451903.2:c.840-14T>A	ENSP00000406136.2:n.840-14T>A
NM_001122633.2:c.2211-14T>A	NP_001116105.1:n.2211-14T>A
NM_001122634.3:c.840-14T>A	NP_001116106.1:n.840-14T>A
NM_001875.4:c.2193-14T>A , LRG_336t1:c.2193-14T>A	NP_001866.2:n.2193-14T>A
XM_011510640.1:c.2226-14T>A	XP_011508942.1:n.2226-14T>A
XM_011510641.1:c.2193-14T>A	XP_011508943.1:n.2193-14T>A
XM_011510642.1:c.2193-14T>A	XP_011508944.1:n.2193-14T>A
XM_011510643.1:c.2193-14T>A	XP_011508945.1:n.2193-14T>A
XM_011510644.1:c.2193-14T>A	XP_011508946.1:n.2193-14T>A
NM_001122633.3:c.2193-14T>A	NP_001116105.2:n.2193-14T>A
NM_001369256.1:c.2226-14T>A	NP_001356185.1:n.2226-14T>A
NM_001369257.1:c.2193-14T>A	NP_001356186.1:n.2193-14T>A
NM_001875.5:c.2193-14T>A MANE Select	NP_001866.2:n.2193-14T>A
NR_161225.1:n.3102-14T>A
NR_163592.1:n.1349-14T>A