Canonical Allele Identifier: CA431013385

Gene: CPS1

Linked Data

• ClinVar Variation Id: 1658732
• ClinVar RCV Id: RCV002175996
• dbSNP Id: rs1235300832
• gnomAD v2: 2-211540496-T-C
• gnomAD v3: 2-210675772-T-C
• gnomAD v4: 2-210675772-T-C
• MyVariant Identifiers: chr2:g.211540496T>C (hg19) ; chr2:g.210675772T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675772T>C , CM000664.2:g.210675772T>C	GRCh38
NC_000002.11:g.211540496T>C , CM000664.1:g.211540496T>C	GRCh37
NC_000002.10:g.211248741T>C	NCBI36
NG_008285.1:g.203088T>C , LRG_336:g.203088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.4206T>C MANE Select	ENSP00000233072.5:p.Asn1402=
ENST00000430249.7:c.4224T>C	ENSP00000402608.2:p.Asn1408=
ENST00000451903.3:c.2853T>C	ENSP00000406136.2:p.Asn951=
ENST00000645825.1:n.871T>C
ENST00000671984.1:n.354T>C
ENST00000673510.1:c.4206T>C	ENSP00000500537.1:p.Asn1402=
ENST00000673630.1:c.4206T>C	ENSP00000501073.1:p.Asn1402=
ENST00000673698.1:c.2829T>C
ENST00000673711.1:c.4206T>C	ENSP00000501022.1:p.Asn1402=
ENST00000674074.1:n.3351T>C
ENST00000233072.9:c.4206T>C	ENSP00000233072.5:p.Asn1402=
ENST00000430249.6:c.4224T>C	ENSP00000402608.2:p.Asn1408=
ENST00000451903.2:c.2853T>C	ENSP00000406136.2:p.Asn951=
ENST00000479988.1:n.3392T>C
NM_001122633.2:c.4224T>C	NP_001116105.1:p.Asn1408=
NM_001122634.3:c.2853T>C	NP_001116106.1:p.Asn951=
NM_001875.4:c.4206T>C , LRG_336t1:c.4206T>C	NP_001866.2:p.Asn1402=
XM_011510640.1:c.4239T>C	XP_011508942.1:p.Asn1413=
XM_011510641.1:c.4206T>C	XP_011508943.1:p.Asn1402=
XM_011510642.1:c.4206T>C	XP_011508944.1:p.Asn1402=
XM_011510643.1:c.4206T>C	XP_011508945.1:p.Asn1402=
XM_011510644.1:c.4206T>C	XP_011508946.1:p.Asn1402=
NM_001122633.3:c.4206T>C	NP_001116105.2:p.Asn1402=
NM_001369256.1:c.4239T>C	NP_001356185.1:p.Asn1413=
NM_001369257.1:c.4206T>C	NP_001356186.1:p.Asn1402=
NM_001875.5:c.4206T>C MANE Select	NP_001866.2:p.Asn1402=
NR_161225.1:n.5115T>C
NR_163592.1:n.3362T>C