Canonical Allele Identifier: CA7890228

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082581T>A , CM000678.2:g.5082581T>A	GRCh38
NC_000016.9:g.5132582T>A , CM000678.1:g.5132582T>A	GRCh37
NC_000016.8:g.5072583T>A	NCBI36
NG_009202.1:g.15773T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1095T>A MANE Select	NP_061982.3:p.Cys365Ter
ENST00000262374.10:c.1095T>A MANE Select	ENSP00000262374.5:p.Cys365Ter
NM_001330504.1:c.762T>A	NP_001317433.1:p.Cys254Ter
NM_001330504.2:c.762T>A	NP_001317433.1:p.Cys254Ter
NM_019109.4:c.1095T>A	NP_061982.3:p.Cys365Ter
ENST00000262374.9:c.1095T>A	ENSP00000262374.4:p.Cys365Ter
ENST00000544428.1:c.762T>A	ENSP00000440019.1:p.Cys254Ter
ENST00000588623.5:c.762T>A	ENSP00000468118.1:p.Cys254Ter
ENST00000591822.5:c.*996T>A	ENSP00000467865.1:n.*996T>A
ENST00000592793.6:n.3231T>A
ENST00000650085.1:n.1919T>A
ENST00000682020.1:c.501T>A	ENSP00000508075.1:p.Cys167Ter
ENST00000682206.1:c.*190T>A	ENSP00000508285.1:n.*190T>A
ENST00000682314.1:n.1143T>A
ENST00000682327.1:c.567T>A	ENSP00000507058.1:p.Cys189Ter
ENST00000682349.1:n.3237T>A
ENST00000682703.1:n.4063T>A
ENST00000682797.1:c.*187T>A	ENSP00000507582.1:n.*187T>A
ENST00000682985.1:c.606T>A	ENSP00000507598.1:p.Cys202Ter
ENST00000683433.1:c.354T>A	ENSP00000507463.1:p.Cys118Ter
ENST00000683685.1:n.1969T>A
ENST00000683710.1:c.*1062T>A	ENSP00000506785.1:n.*1062T>A
ENST00000683739.1:c.762T>A	ENSP00000507002.1:p.Cys254Ter
ENST00000683772.1:n.1139T>A
ENST00000684008.1:c.1033T>A	ENSP00000507962.1:n.1033T>A
ENST00000684190.1:c.1056T>A	ENSP00000507554.1:p.Cys352Ter
ENST00000684335.1:c.984T>A	ENSP00000508112.1:p.Cys328Ter
XM_011522565.1:c.762T>A	XP_011520867.1:p.Cys254Ter
XM_017023457.2:c.1056T>A	XP_016878946.1:p.Cys352Ter
XM_017023458.1:c.762T>A	XP_016878947.1:p.Cys254Ter
XR_932882.3:n.1124T>A