Canonical Allele Identifier: CA2662927279

Gene: CPS1

Linked Data

• gnomAD v4: 2-210608582-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608582T>C , CM000664.2:g.210608582T>C	GRCh38
NC_000002.11:g.211473306T>C , CM000664.1:g.211473306T>C	GRCh37
NC_000002.10:g.211181551T>C	NCBI36
NG_008285.1:g.135898T>C , LRG_336:g.135898T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2391+23T>C MANE Select	ENSP00000233072.5:n.2391+23T>C
ENST00000430249.7:c.2409+23T>C	ENSP00000402608.2:n.2409+23T>C
ENST00000451903.3:c.1038+23T>C	ENSP00000406136.2:n.1038+23T>C
ENST00000673510.1:c.2391+23T>C	ENSP00000500537.1:n.2391+23T>C
ENST00000673630.1:c.2391+23T>C	ENSP00000501073.1:n.2391+23T>C
ENST00000673698.1:c.871+23T>C
ENST00000673711.1:c.2391+23T>C	ENSP00000501022.1:n.2391+23T>C
ENST00000674074.1:n.1536+23T>C
ENST00000233072.9:c.2391+23T>C	ENSP00000233072.5:n.2391+23T>C
ENST00000430249.6:c.2409+23T>C	ENSP00000402608.2:n.2409+23T>C
ENST00000451903.2:c.1038+23T>C	ENSP00000406136.2:n.1038+23T>C
NM_001122633.2:c.2409+23T>C	NP_001116105.1:n.2409+23T>C
NM_001122634.3:c.1038+23T>C	NP_001116106.1:n.1038+23T>C
NM_001875.4:c.2391+23T>C , LRG_336t1:c.2391+23T>C	NP_001866.2:n.2391+23T>C
XM_011510640.1:c.2424+23T>C	XP_011508942.1:n.2424+23T>C
XM_011510641.1:c.2391+23T>C	XP_011508943.1:n.2391+23T>C
XM_011510642.1:c.2391+23T>C	XP_011508944.1:n.2391+23T>C
XM_011510643.1:c.2391+23T>C	XP_011508945.1:n.2391+23T>C
XM_011510644.1:c.2391+23T>C	XP_011508946.1:n.2391+23T>C
NM_001122633.3:c.2391+23T>C	NP_001116105.2:n.2391+23T>C
NM_001369256.1:c.2424+23T>C	NP_001356185.1:n.2424+23T>C
NM_001369257.1:c.2391+23T>C	NP_001356186.1:n.2391+23T>C
NM_001875.5:c.2391+23T>C MANE Select	NP_001866.2:n.2391+23T>C
NR_161225.1:n.3300+23T>C
NR_163592.1:n.1547+23T>C