Canonical Allele Identifier: CA350440739

Gene: CPS1

Linked Data

• gnomAD v4: 2-210675783-C-G
• MyVariant Identifiers: chr2:g.211540507C>G (hg19) ; chr2:g.210675783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675783C>G , CM000664.2:g.210675783C>G	GRCh38
NC_000002.11:g.211540507C>G , CM000664.1:g.211540507C>G	GRCh37
NC_000002.10:g.211248752C>G	NCBI36
NG_008285.1:g.203099C>G , LRG_336:g.203099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.4217C>G MANE Select	ENSP00000233072.5:p.Thr1406Ser
ENST00000430249.7:c.4235C>G	ENSP00000402608.2:p.Thr1412Ser
ENST00000451903.3:c.2864C>G	ENSP00000406136.2:p.Thr955Ser
ENST00000645825.1:n.882C>G
ENST00000671984.1:n.365C>G
ENST00000673510.1:c.4217C>G	ENSP00000500537.1:p.Thr1406Ser
ENST00000673630.1:c.4217C>G	ENSP00000501073.1:p.Thr1406Ser
ENST00000673698.1:c.2840C>G
ENST00000673711.1:c.4217C>G	ENSP00000501022.1:p.Thr1406Ser
ENST00000674074.1:n.3362C>G
ENST00000233072.9:c.4217C>G	ENSP00000233072.5:p.Thr1406Ser
ENST00000430249.6:c.4235C>G	ENSP00000402608.2:p.Thr1412Ser
ENST00000451903.2:c.2864C>G	ENSP00000406136.2:p.Thr955Ser
ENST00000479988.1:n.3403C>G
NM_001122633.2:c.4235C>G	NP_001116105.1:p.Thr1412Ser
NM_001122634.3:c.2864C>G	NP_001116106.1:p.Thr955Ser
NM_001875.4:c.4217C>G , LRG_336t1:c.4217C>G	NP_001866.2:p.Thr1406Ser
XM_011510640.1:c.4250C>G	XP_011508942.1:p.Thr1417Ser
XM_011510641.1:c.4217C>G	XP_011508943.1:p.Thr1406Ser
XM_011510642.1:c.4217C>G	XP_011508944.1:p.Thr1406Ser
XM_011510643.1:c.4217C>G	XP_011508945.1:p.Thr1406Ser
XM_011510644.1:c.4217C>G	XP_011508946.1:p.Thr1406Ser
NM_001122633.3:c.4217C>G	NP_001116105.2:p.Thr1406Ser
NM_001369256.1:c.4250C>G	NP_001356185.1:p.Thr1417Ser
NM_001369257.1:c.4217C>G	NP_001356186.1:p.Thr1406Ser
NM_001875.5:c.4217C>G MANE Select	NP_001866.2:p.Thr1406Ser
NR_161225.1:n.5126C>G
NR_163592.1:n.3373C>G