Canonical Allele Identifier: CA350440720

Gene: CPS1

Linked Data

• MyVariant Identifiers: chr2:g.211540497G>T (hg19) ; chr2:g.210675773G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675773G>T , CM000664.2:g.210675773G>T	GRCh38
NC_000002.11:g.211540497G>T , CM000664.1:g.211540497G>T	GRCh37
NC_000002.10:g.211248742G>T	NCBI36
NG_008285.1:g.203089G>T , LRG_336:g.203089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.4207G>T MANE Select	ENSP00000233072.5:p.Val1403Phe
ENST00000430249.7:c.4225G>T	ENSP00000402608.2:p.Val1409Phe
ENST00000451903.3:c.2854G>T	ENSP00000406136.2:p.Val952Phe
ENST00000645825.1:n.872G>T
ENST00000671984.1:n.355G>T
ENST00000673510.1:c.4207G>T	ENSP00000500537.1:p.Val1403Phe
ENST00000673630.1:c.4207G>T	ENSP00000501073.1:p.Val1403Phe
ENST00000673698.1:c.2830G>T
ENST00000673711.1:c.4207G>T	ENSP00000501022.1:p.Val1403Phe
ENST00000674074.1:n.3352G>T
ENST00000233072.9:c.4207G>T	ENSP00000233072.5:p.Val1403Phe
ENST00000430249.6:c.4225G>T	ENSP00000402608.2:p.Val1409Phe
ENST00000451903.2:c.2854G>T	ENSP00000406136.2:p.Val952Phe
ENST00000479988.1:n.3393G>T
NM_001122633.2:c.4225G>T	NP_001116105.1:p.Val1409Phe
NM_001122634.3:c.2854G>T	NP_001116106.1:p.Val952Phe
NM_001875.4:c.4207G>T , LRG_336t1:c.4207G>T	NP_001866.2:p.Val1403Phe
XM_011510640.1:c.4240G>T	XP_011508942.1:p.Val1414Phe
XM_011510641.1:c.4207G>T	XP_011508943.1:p.Val1403Phe
XM_011510642.1:c.4207G>T	XP_011508944.1:p.Val1403Phe
XM_011510643.1:c.4207G>T	XP_011508945.1:p.Val1403Phe
XM_011510644.1:c.4207G>T	XP_011508946.1:p.Val1403Phe
NM_001122633.3:c.4207G>T	NP_001116105.2:p.Val1403Phe
NM_001369256.1:c.4240G>T	NP_001356185.1:p.Val1414Phe
NM_001369257.1:c.4207G>T	NP_001356186.1:p.Val1403Phe
NM_001875.5:c.4207G>T MANE Select	NP_001866.2:p.Val1403Phe
NR_161225.1:n.5116G>T
NR_163592.1:n.3363G>T