Canonical Allele Identifier: CA2087211

Gene: CPS1

Linked Data

• dbSNP Id: rs760971703
• ExAC: 2:211540404 T / A
• gnomAD v2: 2-211540404-T-A
• gnomAD v3: 2-210675680-T-A
• gnomAD v4: 2-210675680-T-A
• MyVariant Identifiers: chr2:g.211540404T>A (hg19) ; chr2:g.211540404_211540407delinsAAAG (hg19) ; chr2:g.210675680T>A (hg38) ; chr2:g.210675680_210675683delinsAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675680T>A , CM000664.2:g.210675680T>A	GRCh38
NC_000002.11:g.211540404T>A , CM000664.1:g.211540404T>A	GRCh37
NC_000002.10:g.211248649T>A	NCBI36
NG_008285.1:g.202996T>A , LRG_336:g.202996T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233072.10:c.4162-48T>A MANE Select	ENSP00000233072.5:n.4162-48T>A
ENST00000430249.7:c.4180-48T>A	ENSP00000402608.2:n.4180-48T>A
ENST00000451903.3:c.2809-48T>A	ENSP00000406136.2:n.2809-48T>A
ENST00000645825.1:n.827-48T>A
ENST00000671984.1:n.310-48T>A
ENST00000673510.1:c.4162-48T>A	ENSP00000500537.1:n.4162-48T>A
ENST00000673630.1:c.4162-48T>A	ENSP00000501073.1:n.4162-48T>A
ENST00000673698.1:c.2785-48T>A
ENST00000673711.1:c.4162-48T>A	ENSP00000501022.1:n.4162-48T>A
ENST00000674074.1:n.3307-48T>A
ENST00000233072.9:c.4162-48T>A	ENSP00000233072.5:n.4162-48T>A
ENST00000430249.6:c.4180-48T>A	ENSP00000402608.2:n.4180-48T>A
ENST00000451903.2:c.2809-48T>A	ENSP00000406136.2:n.2809-48T>A
ENST00000479988.1:n.3348-48T>A
NM_001122633.2:c.4180-48T>A	NP_001116105.1:n.4180-48T>A
NM_001122634.3:c.2809-48T>A	NP_001116106.1:n.2809-48T>A
NM_001875.4:c.4162-48T>A , LRG_336t1:c.4162-48T>A	NP_001866.2:n.4162-48T>A
XM_011510640.1:c.4195-48T>A	XP_011508942.1:n.4195-48T>A
XM_011510641.1:c.4162-48T>A	XP_011508943.1:n.4162-48T>A
XM_011510642.1:c.4162-48T>A	XP_011508944.1:n.4162-48T>A
XM_011510643.1:c.4162-48T>A	XP_011508945.1:n.4162-48T>A
XM_011510644.1:c.4162-48T>A	XP_011508946.1:n.4162-48T>A
NM_001122633.3:c.4162-48T>A	NP_001116105.2:n.4162-48T>A
NM_001369256.1:c.4195-48T>A	NP_001356185.1:n.4195-48T>A
NM_001369257.1:c.4162-48T>A	NP_001356186.1:n.4162-48T>A
NM_001875.5:c.4162-48T>A MANE Select	NP_001866.2:n.4162-48T>A
NR_161225.1:n.5071-48T>A
NR_163592.1:n.3318-48T>A