Canonical Allele Identifier: CA394672549

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5130953G>A (hg19) ; chr16:g.5080952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080952G>A , CM000678.2:g.5080952G>A	GRCh38
NC_000016.9:g.5130953G>A , CM000678.1:g.5130953G>A	GRCh37
NC_000016.8:g.5070954G>A	NCBI36
NG_009202.1:g.14144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3104G>A
ENST00000682020.1:c.374G>A	ENSP00000508075.1:p.Gly125Glu
ENST00000682206.1:c.*60G>A	ENSP00000508285.1:n.*60G>A
ENST00000682314.1:n.1016G>A
ENST00000682327.1:c.440G>A	ENSP00000507058.1:p.Gly147Glu
ENST00000682349.1:n.3110G>A
ENST00000682703.1:n.3936G>A
ENST00000682797.1:c.*60G>A	ENSP00000507582.1:n.*60G>A
ENST00000682985.1:c.479G>A	ENSP00000507598.1:p.Gly160Glu
ENST00000683433.1:c.224G>A	ENSP00000507463.1:p.Gly75Glu
ENST00000683685.1:n.1842G>A
ENST00000683710.1:c.*935G>A	ENSP00000506785.1:n.*935G>A
ENST00000683739.1:c.635G>A	ENSP00000507002.1:p.Gly212Glu
ENST00000683772.1:n.1012G>A
ENST00000684008.1:c.906G>A	ENSP00000507962.1:n.906G>A
ENST00000684190.1:c.929G>A	ENSP00000507554.1:p.Gly310Glu
ENST00000684335.1:c.961+1145G>A	ENSP00000508112.1:n.961+1145G>A
ENST00000262374.10:c.968G>A MANE Select	ENSP00000262374.5:p.Gly323Glu
ENST00000650085.1:n.1792G>A
ENST00000262374.9:c.968G>A	ENSP00000262374.4:p.Gly323Glu
ENST00000544428.1:c.635G>A	ENSP00000440019.1:p.Gly212Glu
ENST00000588623.5:c.635G>A	ENSP00000468118.1:p.Gly212Glu
ENST00000591822.5:c.*869G>A	ENSP00000467865.1:n.*869G>A
NM_019109.4:c.968G>A	NP_061982.3:p.Gly323Glu
XM_011522565.1:c.635G>A	XP_011520867.1:p.Gly212Glu
XR_932882.1:n.1013G>A
NM_001330504.1:c.635G>A	NP_001317433.1:p.Gly212Glu
XM_017023457.2:c.929G>A	XP_016878946.1:p.Gly310Glu
XM_017023458.1:c.635G>A	XP_016878947.1:p.Gly212Glu
XR_932882.3:n.997G>A
NM_019109.5:c.968G>A MANE Select	NP_061982.3:p.Gly323Glu
NM_001330504.2:c.635G>A	NP_001317433.1:p.Gly212Glu