Canonical Allele Identifier: CA2085993

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210576443C>T , CM000664.2:g.210576443C>T	GRCh38
NC_000002.11:g.211441167C>T , CM000664.1:g.211441167C>T	GRCh37
NC_000002.10:g.211149412C>T	NCBI36
NG_008285.1:g.103759C>T , LRG_336:g.103759C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001875.5:c.334C>T MANE Select	NP_001866.2:p.Leu112=
ENST00000233072.10:c.334C>T MANE Select	ENSP00000233072.5:p.Leu112=
NM_001122633.2:c.352C>T	NP_001116105.1:p.Leu118=
NM_001122633.3:c.334C>T	NP_001116105.2:p.Leu112=
NM_001369256.1:c.367C>T	NP_001356185.1:p.Leu123=
NM_001369257.1:c.334C>T	NP_001356186.1:p.Leu112=
NM_001875.4:c.334C>T , LRG_336t1:c.334C>T	NP_001866.2:p.Leu112=
NR_161225.1:n.1246C>T
ENST00000233072.9:c.334C>T	ENSP00000233072.5:p.Leu112=
ENST00000417946.5:c.334C>T	ENSP00000388496.1:p.Leu112=
ENST00000430249.6:c.352C>T	ENSP00000402608.2:p.Leu118=
ENST00000430249.7:c.352C>T	ENSP00000402608.2:p.Leu118=
ENST00000518043.5:c.334C>T	ENSP00000430697.1:p.Leu112=
ENST00000523702.5:c.352C>T	ENSP00000430644.1:p.Leu118=
ENST00000619804.1:c.334C>T	ENSP00000480517.1:p.Leu112=
ENST00000673510.1:c.334C>T	ENSP00000500537.1:p.Leu112=
ENST00000673630.1:c.334C>T	ENSP00000501073.1:p.Leu112=
ENST00000673711.1:c.334C>T	ENSP00000501022.1:p.Leu112=
XM_011510640.1:c.367C>T	XP_011508942.1:p.Leu123=
XM_011510641.1:c.334C>T	XP_011508943.1:p.Leu112=
XM_011510642.1:c.334C>T	XP_011508944.1:p.Leu112=
XM_011510643.1:c.334C>T	XP_011508945.1:p.Leu112=
XM_011510644.1:c.334C>T	XP_011508946.1:p.Leu112=