Canonical Allele Identifier: CA394681919

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5079067A>G , CM000678.2:g.5079067A>G	GRCh38
NC_000016.9:g.5129068A>G , CM000678.1:g.5129068A>G	GRCh37
NC_000016.8:g.5069069A>G	NCBI36
NG_009202.1:g.12259A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.866A>G MANE Select	NP_061982.3:p.Asp289Gly
ENST00000262374.10:c.866A>G MANE Select	ENSP00000262374.5:p.Asp289Gly
NM_001330504.1:c.533A>G	NP_001317433.1:p.Asp178Gly
NM_001330504.2:c.533A>G	NP_001317433.1:p.Asp178Gly
NM_019109.4:c.866A>G	NP_061982.3:p.Asp289Gly
ENST00000262374.9:c.866A>G	ENSP00000262374.4:p.Asp289Gly
ENST00000544428.1:c.533A>G	ENSP00000440019.1:p.Asp178Gly
ENST00000588623.5:c.533A>G	ENSP00000468118.1:p.Asp178Gly
ENST00000591822.5:c.*767A>G	ENSP00000467865.1:n.*767A>G
ENST00000592793.6:n.3002A>G
ENST00000650085.1:n.1686A>G
ENST00000682020.1:c.272A>G	ENSP00000508075.1:p.Asp91Gly
ENST00000682206.1:c.866A>G	ENSP00000508285.1:p.Asp289Gly
ENST00000682314.1:n.910A>G
ENST00000682327.1:c.373+189A>G	ENSP00000507058.1:n.373+189A>G
ENST00000682349.1:n.3004A>G
ENST00000682703.1:n.3189A>G
ENST00000682797.1:c.866A>G	ENSP00000507582.1:p.Asp289Gly
ENST00000682985.1:c.377A>G	ENSP00000507598.1:p.Asp126Gly
ENST00000683433.1:c.157+189A>G	ENSP00000507463.1:n.157+189A>G
ENST00000683685.1:n.1095A>G
ENST00000683710.1:c.*829A>G	ENSP00000506785.1:n.*829A>G
ENST00000683739.1:c.533A>G	ENSP00000507002.1:p.Asp178Gly
ENST00000683772.1:n.910A>G
ENST00000684008.1:c.800A>G	ENSP00000507962.1:p.Asp267Gly
ENST00000684190.1:c.862+189A>G	ENSP00000507554.1:n.862+189A>G
ENST00000684335.1:c.866A>G	ENSP00000508112.1:p.Asp289Gly
XM_011522565.1:c.533A>G	XP_011520867.1:p.Asp178Gly
XM_017023457.2:c.862+189A>G	XP_016878946.1:n.862+189A>G
XM_017023458.1:c.533A>G	XP_016878947.1:p.Asp178Gly
XR_932882.1:n.907A>G
XR_932882.3:n.891A>G