Canonical Allele Identifier: CA2203682682

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078854C= , CM000678.2:g.5078854C=	GRCh38
NC_000016.9:g.5128855C= , CM000678.1:g.5128855C=	GRCh37
NC_000016.8:g.5068856C=	NCBI36
NG_009202.1:g.12046C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2976C=
ENST00000682020.1:c.244C=	ENSP00000508075.1:p.Leu82=
ENST00000682206.1:c.838C=	ENSP00000508285.1:p.Leu280=
ENST00000682314.1:n.882C=
ENST00000682327.1:c.349C=	ENSP00000507058.1:p.Leu117=
ENST00000682349.1:n.2976C=
ENST00000682703.1:n.2976C=
ENST00000682797.1:c.838C=	ENSP00000507582.1:p.Leu280=
ENST00000682985.1:c.349C=	ENSP00000507598.1:p.Leu117=
ENST00000683433.1:c.133C=	ENSP00000507463.1:p.Leu45=
ENST00000683685.1:n.882C=
ENST00000683710.1:c.*801C=	ENSP00000506785.1:n.*801C=
ENST00000683739.1:c.505C=	ENSP00000507002.1:p.Leu169=
ENST00000683772.1:n.882C=
ENST00000684008.1:c.772C=	ENSP00000507962.1:p.Leu258=
ENST00000684190.1:c.838C=	ENSP00000507554.1:p.Leu280=
ENST00000684335.1:c.838C=	ENSP00000508112.1:p.Leu280=
ENST00000262374.10:c.838C= MANE Select	ENSP00000262374.5:p.Leu280=
ENST00000650085.1:n.1658C=
ENST00000262374.9:c.838C=	ENSP00000262374.4:p.Leu280=
ENST00000544428.1:c.505C=	ENSP00000440019.1:p.Leu169=
ENST00000588623.5:c.505C=	ENSP00000468118.1:p.Leu169=
ENST00000591822.5:c.*739C=	ENSP00000467865.1:n.*739C=
NM_019109.4:c.838C=	NP_061982.3:p.Leu280=
XM_011522565.1:c.505C=	XP_011520867.1:p.Leu169=
XR_932882.1:n.879C=
NM_001330504.1:c.505C=	NP_001317433.1:p.Leu169=
XM_017023457.2:c.838C=	XP_016878946.1:p.Leu280=
XM_017023458.1:c.505C=	XP_016878947.1:p.Leu169=
XR_932882.3:n.863C=
NM_019109.5:c.838C= MANE Select	NP_061982.3:p.Leu280=
NM_001330504.2:c.505C=	NP_001317433.1:p.Leu169=