Canonical Allele Identifier: CA350430396

Gene: CPS1

Linked Data

• ClinVar Variation Id: 2810937
• ClinVar RCV Id: RCV003604183
• dbSNP Id: rs1335664604
• MyVariant Identifiers: chr2:g.211456559C>T (hg19) ; chr2:g.210591835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210591835C>T , CM000664.2:g.210591835C>T	GRCh38
NC_000002.11:g.211456559C>T , CM000664.1:g.211456559C>T	GRCh37
NC_000002.10:g.211164804C>T	NCBI36
NG_008285.1:g.119151C>T , LRG_336:g.119151C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233072.10:c.952C>T MANE Select	ENSP00000233072.5:p.Gln318Ter
ENST00000430249.7:c.970C>T	ENSP00000402608.2:p.Gln324Ter
ENST00000673510.1:c.952C>T	ENSP00000500537.1:p.Gln318Ter
ENST00000673630.1:c.952C>T	ENSP00000501073.1:p.Gln318Ter
ENST00000673711.1:c.952C>T	ENSP00000501022.1:p.Gln318Ter
ENST00000233072.9:c.952C>T	ENSP00000233072.5:p.Gln318Ter
ENST00000430249.6:c.970C>T	ENSP00000402608.2:p.Gln324Ter
ENST00000619804.1:c.952C>T	ENSP00000480517.1:p.Gln318Ter
NM_001122633.2:c.970C>T	NP_001116105.1:p.Gln324Ter
NM_001875.4:c.952C>T , LRG_336t1:c.952C>T	NP_001866.2:p.Gln318Ter
XM_011510640.1:c.985C>T	XP_011508942.1:p.Gln329Ter
XM_011510641.1:c.952C>T	XP_011508943.1:p.Gln318Ter
XM_011510642.1:c.952C>T	XP_011508944.1:p.Gln318Ter
XM_011510643.1:c.952C>T	XP_011508945.1:p.Gln318Ter
XM_011510644.1:c.952C>T	XP_011508946.1:p.Gln318Ter
NM_001122633.3:c.952C>T	NP_001116105.2:p.Gln318Ter
NM_001369256.1:c.985C>T	NP_001356185.1:p.Gln329Ter
NM_001369257.1:c.952C>T	NP_001356186.1:p.Gln318Ter
NM_001875.5:c.952C>T MANE Select	NP_001866.2:p.Gln318Ter
NR_161225.1:n.1864C>T