Canonical Allele Identifier: CA350430603

Gene: CPS1

Linked Data

• gnomAD v4: 2-210591929-G-T
• MyVariant Identifiers: chr2:g.211456653G>T (hg19) ; chr2:g.210591929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210591929G>T , CM000664.2:g.210591929G>T	GRCh38
NC_000002.11:g.211456653G>T , CM000664.1:g.211456653G>T	GRCh37
NC_000002.10:g.211164898G>T	NCBI36
NG_008285.1:g.119245G>T , LRG_336:g.119245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1046G>T MANE Select	ENSP00000233072.5:p.Trp349Leu
ENST00000430249.7:c.1064G>T	ENSP00000402608.2:p.Trp355Leu
ENST00000673510.1:c.1046G>T	ENSP00000500537.1:p.Trp349Leu
ENST00000673630.1:c.1046G>T	ENSP00000501073.1:p.Trp349Leu
ENST00000673711.1:c.1046G>T	ENSP00000501022.1:p.Trp349Leu
ENST00000233072.9:c.1046G>T	ENSP00000233072.5:p.Trp349Leu
ENST00000430249.6:c.1064G>T	ENSP00000402608.2:p.Trp355Leu
ENST00000619804.1:c.1046G>T	ENSP00000480517.1:p.Trp349Leu
NM_001122633.2:c.1064G>T	NP_001116105.1:p.Trp355Leu
NM_001875.4:c.1046G>T , LRG_336t1:c.1046G>T	NP_001866.2:p.Trp349Leu
XM_011510640.1:c.1079G>T	XP_011508942.1:p.Trp360Leu
XM_011510641.1:c.1046G>T	XP_011508943.1:p.Trp349Leu
XM_011510642.1:c.1046G>T	XP_011508944.1:p.Trp349Leu
XM_011510643.1:c.1046G>T	XP_011508945.1:p.Trp349Leu
XM_011510644.1:c.1046G>T	XP_011508946.1:p.Trp349Leu
NM_001122633.3:c.1046G>T	NP_001116105.2:p.Trp349Leu
NM_001369256.1:c.1079G>T	NP_001356185.1:p.Trp360Leu
NM_001369257.1:c.1046G>T	NP_001356186.1:p.Trp349Leu
NM_001875.5:c.1046G>T MANE Select	NP_001866.2:p.Trp349Leu
NR_161225.1:n.1958G>T