Canonical Allele Identifier: CA431012248

Gene: CPS1

Linked Data

• gnomAD v4: 2-210600649-G-A
• MyVariant Identifiers: chr2:g.211465373G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210600649G>A , CM000664.2:g.210600649G>A	GRCh38
NC_000002.11:g.211465373G>A , CM000664.1:g.211465373G>A	GRCh37
NC_000002.10:g.211173618G>A	NCBI36
NG_008285.1:g.127965G>A , LRG_336:g.127965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1644G>A MANE Select	ENSP00000233072.5:p.Gln548=
ENST00000430249.7:c.1662G>A	ENSP00000402608.2:p.Gln554=
ENST00000451903.3:c.291G>A	ENSP00000406136.2:p.Gln97=
ENST00000673510.1:c.1644G>A	ENSP00000500537.1:p.Gln548=
ENST00000673630.1:c.1644G>A	ENSP00000501073.1:p.Gln548=
ENST00000673698.1:c.124G>A
ENST00000673711.1:c.1644G>A	ENSP00000501022.1:p.Gln548=
ENST00000674074.1:n.789G>A
ENST00000233072.9:c.1644G>A	ENSP00000233072.5:p.Gln548=
ENST00000430249.6:c.1662G>A	ENSP00000402608.2:p.Gln554=
ENST00000451903.2:c.291G>A	ENSP00000406136.2:p.Gln97=
NM_001122633.2:c.1662G>A	NP_001116105.1:p.Gln554=
NM_001122634.3:c.291G>A	NP_001116106.1:p.Gln97=
NM_001875.4:c.1644G>A , LRG_336t1:c.1644G>A	NP_001866.2:p.Gln548=
XM_011510640.1:c.1677G>A	XP_011508942.1:p.Gln559=
XM_011510641.1:c.1644G>A	XP_011508943.1:p.Gln548=
XM_011510642.1:c.1644G>A	XP_011508944.1:p.Gln548=
XM_011510643.1:c.1644G>A	XP_011508945.1:p.Gln548=
XM_011510644.1:c.1644G>A	XP_011508946.1:p.Gln548=
NM_001122633.3:c.1644G>A	NP_001116105.2:p.Gln548=
NM_001369256.1:c.1677G>A	NP_001356185.1:p.Gln559=
NM_001369257.1:c.1644G>A	NP_001356186.1:p.Gln548=
NM_001875.5:c.1644G>A MANE Select	NP_001866.2:p.Gln548=
NR_161225.1:n.2553G>A
NR_163592.1:n.800G>A