Canonical Allele Identifier: CA350440701

Gene: CPS1

Linked Data

• MyVariant Identifiers: chr2:g.211540489C>T (hg19) ; chr2:g.210675765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675765C>T , CM000664.2:g.210675765C>T	GRCh38
NC_000002.11:g.211540489C>T , CM000664.1:g.211540489C>T	GRCh37
NC_000002.10:g.211248734C>T	NCBI36
NG_008285.1:g.203081C>T , LRG_336:g.203081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.4199C>T MANE Select	ENSP00000233072.5:p.Ala1400Val
ENST00000430249.7:c.4217C>T	ENSP00000402608.2:p.Ala1406Val
ENST00000451903.3:c.2846C>T	ENSP00000406136.2:p.Ala949Val
ENST00000645825.1:n.864C>T
ENST00000671984.1:n.347C>T
ENST00000673510.1:c.4199C>T	ENSP00000500537.1:p.Ala1400Val
ENST00000673630.1:c.4199C>T	ENSP00000501073.1:p.Ala1400Val
ENST00000673698.1:c.2822C>T
ENST00000673711.1:c.4199C>T	ENSP00000501022.1:p.Ala1400Val
ENST00000674074.1:n.3344C>T
ENST00000233072.9:c.4199C>T	ENSP00000233072.5:p.Ala1400Val
ENST00000430249.6:c.4217C>T	ENSP00000402608.2:p.Ala1406Val
ENST00000451903.2:c.2846C>T	ENSP00000406136.2:p.Ala949Val
ENST00000479988.1:n.3385C>T
NM_001122633.2:c.4217C>T	NP_001116105.1:p.Ala1406Val
NM_001122634.3:c.2846C>T	NP_001116106.1:p.Ala949Val
NM_001875.4:c.4199C>T , LRG_336t1:c.4199C>T	NP_001866.2:p.Ala1400Val
XM_011510640.1:c.4232C>T	XP_011508942.1:p.Ala1411Val
XM_011510641.1:c.4199C>T	XP_011508943.1:p.Ala1400Val
XM_011510642.1:c.4199C>T	XP_011508944.1:p.Ala1400Val
XM_011510643.1:c.4199C>T	XP_011508945.1:p.Ala1400Val
XM_011510644.1:c.4199C>T	XP_011508946.1:p.Ala1400Val
NM_001122633.3:c.4199C>T	NP_001116105.2:p.Ala1400Val
NM_001369256.1:c.4232C>T	NP_001356185.1:p.Ala1411Val
NM_001369257.1:c.4199C>T	NP_001356186.1:p.Ala1400Val
NM_001875.5:c.4199C>T MANE Select	NP_001866.2:p.Ala1400Val
NR_161225.1:n.5108C>T
NR_163592.1:n.3355C>T