Canonical Allele Identifier: CA394681792

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078818G>C , CM000678.2:g.5078818G>C	GRCh38
NC_000016.9:g.5128819G>C , CM000678.1:g.5128819G>C	GRCh37
NC_000016.8:g.5068820G>C	NCBI36
NG_009202.1:g.12010G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.802G>C MANE Select	NP_061982.3:p.Gly268Arg
ENST00000262374.10:c.802G>C MANE Select	ENSP00000262374.5:p.Gly268Arg
NM_001330504.1:c.469G>C	NP_001317433.1:p.Gly157Arg
NM_001330504.2:c.469G>C	NP_001317433.1:p.Gly157Arg
NM_019109.4:c.802G>C	NP_061982.3:p.Gly268Arg
ENST00000262374.9:c.802G>C	ENSP00000262374.4:p.Gly268Arg
ENST00000544428.1:c.469G>C	ENSP00000440019.1:p.Gly157Arg
ENST00000588623.5:c.469G>C	ENSP00000468118.1:p.Gly157Arg
ENST00000591783.5:c.469G>C	ENSP00000464700.1:p.Gly157Arg
ENST00000591822.5:c.*703G>C	ENSP00000467865.1:n.*703G>C
ENST00000592793.6:n.2940G>C
ENST00000650085.1:n.1622G>C
ENST00000682020.1:c.208G>C	ENSP00000508075.1:p.Gly70Arg
ENST00000682206.1:c.802G>C	ENSP00000508285.1:p.Gly268Arg
ENST00000682314.1:n.846G>C
ENST00000682327.1:c.313G>C	ENSP00000507058.1:p.Gly105Arg
ENST00000682349.1:n.2940G>C
ENST00000682703.1:n.2940G>C
ENST00000682797.1:c.802G>C	ENSP00000507582.1:p.Gly268Arg
ENST00000682985.1:c.313G>C	ENSP00000507598.1:p.Gly105Arg
ENST00000683433.1:c.97G>C	ENSP00000507463.1:p.Gly33Arg
ENST00000683685.1:n.846G>C
ENST00000683710.1:c.*765G>C	ENSP00000506785.1:n.*765G>C
ENST00000683739.1:c.469G>C	ENSP00000507002.1:p.Gly157Arg
ENST00000683772.1:n.846G>C
ENST00000684008.1:c.736G>C	ENSP00000507962.1:p.Gly246Arg
ENST00000684190.1:c.802G>C	ENSP00000507554.1:p.Gly268Arg
ENST00000684335.1:c.802G>C	ENSP00000508112.1:p.Gly268Arg
XM_011522565.1:c.469G>C	XP_011520867.1:p.Gly157Arg
XM_017023457.2:c.802G>C	XP_016878946.1:p.Gly268Arg
XM_017023458.1:c.469G>C	XP_016878947.1:p.Gly157Arg
XR_932882.1:n.843G>C
XR_932882.3:n.827G>C