Canonical Allele Identifier: CA2203685748

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081009A= , CM000678.2:g.5081009A=	GRCh38
NC_000016.9:g.5131010A= , CM000678.1:g.5131010A=	GRCh37
NC_000016.8:g.5071011A=	NCBI36
NG_009202.1:g.14201A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3161A=
ENST00000682020.1:c.431A=	ENSP00000508075.1:p.Gln144=
ENST00000682206.1:c.*117A=	ENSP00000508285.1:n.*117A=
ENST00000682314.1:n.1073A=
ENST00000682327.1:c.497A=	ENSP00000507058.1:p.Gln166=
ENST00000682349.1:n.3167A=
ENST00000682703.1:n.3993A=
ENST00000682797.1:c.*117A=	ENSP00000507582.1:n.*117A=
ENST00000682985.1:c.536A=	ENSP00000507598.1:p.Gln179=
ENST00000683433.1:c.281A=	ENSP00000507463.1:p.Gln94=
ENST00000683685.1:n.1899A=
ENST00000683710.1:c.*992A=	ENSP00000506785.1:n.*992A=
ENST00000683739.1:c.692A=	ENSP00000507002.1:p.Gln231=
ENST00000683772.1:n.1069A=
ENST00000684008.1:c.963A=	ENSP00000507962.1:n.963A=
ENST00000684190.1:c.986A=	ENSP00000507554.1:p.Gln329=
ENST00000684335.1:c.961+1202A=	ENSP00000508112.1:n.961+1202A=
ENST00000262374.10:c.1025A= MANE Select	ENSP00000262374.5:p.Gln342=
ENST00000650085.1:n.1849A=
ENST00000262374.9:c.1025A=	ENSP00000262374.4:p.Gln342=
ENST00000544428.1:c.692A=	ENSP00000440019.1:p.Gln231=
ENST00000588623.5:c.692A=	ENSP00000468118.1:p.Gln231=
ENST00000591822.5:c.*926A=	ENSP00000467865.1:n.*926A=
NM_019109.4:c.1025A=	NP_061982.3:p.Gln342=
XM_011522565.1:c.692A=	XP_011520867.1:p.Gln231=
NM_001330504.1:c.692A=	NP_001317433.1:p.Gln231=
XM_017023457.2:c.986A=	XP_016878946.1:p.Gln329=
XM_017023458.1:c.692A=	XP_016878947.1:p.Gln231=
XR_932882.3:n.1054A=
NM_019109.5:c.1025A= MANE Select	NP_061982.3:p.Gln342=
NM_001330504.2:c.692A=	NP_001317433.1:p.Gln231=