Canonical Allele Identifier: CA7890111

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5079778A>G , CM000678.2:g.5079778A>G	GRCh38
NC_000016.9:g.5129779A>G , CM000678.1:g.5129779A>G	GRCh37
NC_000016.8:g.5069780A>G	NCBI36
NG_009202.1:g.12970A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.932A>G MANE Select	NP_061982.3:p.Asn311Ser
ENST00000262374.10:c.932A>G MANE Select	ENSP00000262374.5:p.Asn311Ser
NM_001330504.1:c.599A>G	NP_001317433.1:p.Asn200Ser
NM_001330504.2:c.599A>G	NP_001317433.1:p.Asn200Ser
NM_019109.4:c.932A>G	NP_061982.3:p.Asn311Ser
ENST00000262374.9:c.932A>G	ENSP00000262374.4:p.Asn311Ser
ENST00000544428.1:c.599A>G	ENSP00000440019.1:p.Asn200Ser
ENST00000588623.5:c.599A>G	ENSP00000468118.1:p.Asn200Ser
ENST00000591822.5:c.*833A>G	ENSP00000467865.1:n.*833A>G
ENST00000592793.6:n.3068A>G
ENST00000650085.1:n.1756A>G
ENST00000682020.1:c.338A>G	ENSP00000508075.1:p.Asn113Ser
ENST00000682206.1:c.*24A>G	ENSP00000508285.1:n.*24A>G
ENST00000682314.1:n.980A>G
ENST00000682327.1:c.404A>G	ENSP00000507058.1:p.Asn135Ser
ENST00000682349.1:n.3074A>G
ENST00000682703.1:n.3900A>G
ENST00000682797.1:c.*24A>G	ENSP00000507582.1:n.*24A>G
ENST00000682985.1:c.443A>G	ENSP00000507598.1:p.Asn148Ser
ENST00000683433.1:c.188A>G	ENSP00000507463.1:p.Asn63Ser
ENST00000683685.1:n.1806A>G
ENST00000683710.1:c.*899A>G	ENSP00000506785.1:n.*899A>G
ENST00000683739.1:c.599A>G	ENSP00000507002.1:p.Asn200Ser
ENST00000683772.1:n.976A>G
ENST00000684008.1:c.870A>G	ENSP00000507962.1:n.870A>G
ENST00000684190.1:c.893A>G	ENSP00000507554.1:p.Asn298Ser
ENST00000684335.1:c.932A>G	ENSP00000508112.1:p.Asn311Ser
XM_011522565.1:c.599A>G	XP_011520867.1:p.Asn200Ser
XM_017023457.2:c.893A>G	XP_016878946.1:p.Asn298Ser
XM_017023458.1:c.599A>G	XP_016878947.1:p.Asn200Ser
XR_932882.1:n.977A>G
XR_932882.3:n.961A>G