Canonical Allele Identifier: CA16603253

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082636G>C , CM000678.2:g.5082636G>C	GRCh38
NC_000016.9:g.5132637G>C , CM000678.1:g.5132637G>C	GRCh37
NC_000016.8:g.5072638G>C	NCBI36
NG_009202.1:g.15828G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1150G>C MANE Select	NP_061982.3:p.Gly384Arg
ENST00000262374.10:c.1150G>C MANE Select	ENSP00000262374.5:p.Gly384Arg
NM_001330504.1:c.817G>C	NP_001317433.1:p.Gly273Arg
NM_001330504.2:c.817G>C	NP_001317433.1:p.Gly273Arg
NM_019109.4:c.1150G>C	NP_061982.3:p.Gly384Arg
ENST00000262374.9:c.1150G>C	ENSP00000262374.4:p.Gly384Arg
ENST00000544428.1:c.817G>C	ENSP00000440019.1:p.Gly273Arg
ENST00000588623.5:c.817G>C	ENSP00000468118.1:p.Gly273Arg
ENST00000591822.5:c.*1051G>C	ENSP00000467865.1:n.*1051G>C
ENST00000592793.6:n.3286G>C
ENST00000650085.1:n.1974G>C
ENST00000682020.1:c.556G>C	ENSP00000508075.1:p.Gly186Arg
ENST00000682206.1:c.*245G>C	ENSP00000508285.1:n.*245G>C
ENST00000682314.1:n.1198G>C
ENST00000682327.1:c.622G>C	ENSP00000507058.1:p.Gly208Arg
ENST00000682349.1:n.3292G>C
ENST00000682703.1:n.4118G>C
ENST00000682797.1:c.*242G>C	ENSP00000507582.1:n.*242G>C
ENST00000682985.1:c.661G>C	ENSP00000507598.1:p.Gly221Arg
ENST00000683433.1:c.409G>C	ENSP00000507463.1:p.Gly137Arg
ENST00000683685.1:n.2024G>C
ENST00000683710.1:c.*1117G>C	ENSP00000506785.1:n.*1117G>C
ENST00000683739.1:c.817G>C	ENSP00000507002.1:p.Gly273Arg
ENST00000683772.1:n.1194G>C
ENST00000684008.1:c.1088G>C	ENSP00000507962.1:n.1088G>C
ENST00000684190.1:c.1111G>C	ENSP00000507554.1:p.Gly371Arg
ENST00000684335.1:c.1039G>C	ENSP00000508112.1:p.Gly347Arg
XM_011522565.1:c.817G>C	XP_011520867.1:p.Gly273Arg
XM_017023457.2:c.1111G>C	XP_016878946.1:p.Gly371Arg
XM_017023458.1:c.817G>C	XP_016878947.1:p.Gly273Arg
XR_932882.3:n.1179G>C