Canonical Allele Identifier: CA431013381

Gene: CPS1

Linked Data

• gnomAD v4: 2-210675760-C-A
• MyVariant Identifiers: chr2:g.211540484C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675760C>A , CM000664.2:g.210675760C>A	GRCh38
NC_000002.11:g.211540484C>A , CM000664.1:g.211540484C>A	GRCh37
NC_000002.10:g.211248729C>A	NCBI36
NG_008285.1:g.203076C>A , LRG_336:g.203076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.4194C>A MANE Select	ENSP00000233072.5:p.Leu1398=
ENST00000430249.7:c.4212C>A	ENSP00000402608.2:p.Leu1404=
ENST00000451903.3:c.2841C>A	ENSP00000406136.2:p.Leu947=
ENST00000645825.1:n.859C>A
ENST00000671984.1:n.342C>A
ENST00000673510.1:c.4194C>A	ENSP00000500537.1:p.Leu1398=
ENST00000673630.1:c.4194C>A	ENSP00000501073.1:p.Leu1398=
ENST00000673698.1:c.2817C>A
ENST00000673711.1:c.4194C>A	ENSP00000501022.1:p.Leu1398=
ENST00000674074.1:n.3339C>A
ENST00000233072.9:c.4194C>A	ENSP00000233072.5:p.Leu1398=
ENST00000430249.6:c.4212C>A	ENSP00000402608.2:p.Leu1404=
ENST00000451903.2:c.2841C>A	ENSP00000406136.2:p.Leu947=
ENST00000479988.1:n.3380C>A
NM_001122633.2:c.4212C>A	NP_001116105.1:p.Leu1404=
NM_001122634.3:c.2841C>A	NP_001116106.1:p.Leu947=
NM_001875.4:c.4194C>A , LRG_336t1:c.4194C>A	NP_001866.2:p.Leu1398=
XM_011510640.1:c.4227C>A	XP_011508942.1:p.Leu1409=
XM_011510641.1:c.4194C>A	XP_011508943.1:p.Leu1398=
XM_011510642.1:c.4194C>A	XP_011508944.1:p.Leu1398=
XM_011510643.1:c.4194C>A	XP_011508945.1:p.Leu1398=
XM_011510644.1:c.4194C>A	XP_011508946.1:p.Leu1398=
NM_001122633.3:c.4194C>A	NP_001116105.2:p.Leu1398=
NM_001369256.1:c.4227C>A	NP_001356185.1:p.Leu1409=
NM_001369257.1:c.4194C>A	NP_001356186.1:p.Leu1398=
NM_001875.5:c.4194C>A MANE Select	NP_001866.2:p.Leu1398=
NR_161225.1:n.5103C>A
NR_163592.1:n.3350C>A