Canonical Allele Identifier: CA350440654

Gene: CPS1

Linked Data

• MyVariant Identifiers: chr2:g.211540467G>C (hg19) ; chr2:g.210675743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675743G>C , CM000664.2:g.210675743G>C	GRCh38
NC_000002.11:g.211540467G>C , CM000664.1:g.211540467G>C	GRCh37
NC_000002.10:g.211248712G>C	NCBI36
NG_008285.1:g.203059G>C , LRG_336:g.203059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.4177G>C MANE Select	ENSP00000233072.5:p.Ala1393Pro
ENST00000430249.7:c.4195G>C	ENSP00000402608.2:p.Ala1399Pro
ENST00000451903.3:c.2824G>C	ENSP00000406136.2:p.Ala942Pro
ENST00000645825.1:n.842G>C
ENST00000671984.1:n.325G>C
ENST00000673510.1:c.4177G>C	ENSP00000500537.1:p.Ala1393Pro
ENST00000673630.1:c.4177G>C	ENSP00000501073.1:p.Ala1393Pro
ENST00000673698.1:c.2800G>C
ENST00000673711.1:c.4177G>C	ENSP00000501022.1:p.Ala1393Pro
ENST00000674074.1:n.3322G>C
ENST00000233072.9:c.4177G>C	ENSP00000233072.5:p.Ala1393Pro
ENST00000430249.6:c.4195G>C	ENSP00000402608.2:p.Ala1399Pro
ENST00000451903.2:c.2824G>C	ENSP00000406136.2:p.Ala942Pro
ENST00000479988.1:n.3363G>C
NM_001122633.2:c.4195G>C	NP_001116105.1:p.Ala1399Pro
NM_001122634.3:c.2824G>C	NP_001116106.1:p.Ala942Pro
NM_001875.4:c.4177G>C , LRG_336t1:c.4177G>C	NP_001866.2:p.Ala1393Pro
XM_011510640.1:c.4210G>C	XP_011508942.1:p.Ala1404Pro
XM_011510641.1:c.4177G>C	XP_011508943.1:p.Ala1393Pro
XM_011510642.1:c.4177G>C	XP_011508944.1:p.Ala1393Pro
XM_011510643.1:c.4177G>C	XP_011508945.1:p.Ala1393Pro
XM_011510644.1:c.4177G>C	XP_011508946.1:p.Ala1393Pro
NM_001122633.3:c.4177G>C	NP_001116105.2:p.Ala1393Pro
NM_001369256.1:c.4210G>C	NP_001356185.1:p.Ala1404Pro
NM_001369257.1:c.4177G>C	NP_001356186.1:p.Ala1393Pro
NM_001875.5:c.4177G>C MANE Select	NP_001866.2:p.Ala1393Pro
NR_161225.1:n.5086G>C
NR_163592.1:n.3333G>C