Canonical Allele Identifier: CA350430393

Gene: CPS1

Linked Data

• dbSNP Id: rs1273594946
• gnomAD v2: 2-211456557-G-A
• gnomAD v3: 2-210591833-G-A
• gnomAD v4: 2-210591833-G-A
• MyVariant Identifiers: chr2:g.211456557G>A (hg19) ; chr2:g.210591833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210591833G>A , CM000664.2:g.210591833G>A	GRCh38
NC_000002.11:g.211456557G>A , CM000664.1:g.211456557G>A	GRCh37
NC_000002.10:g.211164802G>A	NCBI36
NG_008285.1:g.119149G>A , LRG_336:g.119149G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233072.10:c.950G>A MANE Select	ENSP00000233072.5:p.Gly317Glu
ENST00000430249.7:c.968G>A	ENSP00000402608.2:p.Gly323Glu
ENST00000673510.1:c.950G>A	ENSP00000500537.1:p.Gly317Glu
ENST00000673630.1:c.950G>A	ENSP00000501073.1:p.Gly317Glu
ENST00000673711.1:c.950G>A	ENSP00000501022.1:p.Gly317Glu
ENST00000233072.9:c.950G>A	ENSP00000233072.5:p.Gly317Glu
ENST00000430249.6:c.968G>A	ENSP00000402608.2:p.Gly323Glu
ENST00000619804.1:c.950G>A	ENSP00000480517.1:p.Gly317Glu
NM_001122633.2:c.968G>A	NP_001116105.1:p.Gly323Glu
NM_001875.4:c.950G>A , LRG_336t1:c.950G>A	NP_001866.2:p.Gly317Glu
XM_011510640.1:c.983G>A	XP_011508942.1:p.Gly328Glu
XM_011510641.1:c.950G>A	XP_011508943.1:p.Gly317Glu
XM_011510642.1:c.950G>A	XP_011508944.1:p.Gly317Glu
XM_011510643.1:c.950G>A	XP_011508945.1:p.Gly317Glu
XM_011510644.1:c.950G>A	XP_011508946.1:p.Gly317Glu
NM_001122633.3:c.950G>A	NP_001116105.2:p.Gly317Glu
NM_001369256.1:c.983G>A	NP_001356185.1:p.Gly328Glu
NM_001369257.1:c.950G>A	NP_001356186.1:p.Gly317Glu
NM_001875.5:c.950G>A MANE Select	NP_001866.2:p.Gly317Glu
NR_161225.1:n.1862G>A