Canonical Allele Identifier: CA394681987

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5079099G>T , CM000678.2:g.5079099G>T	GRCh38
NC_000016.9:g.5129100G>T , CM000678.1:g.5129100G>T	GRCh37
NC_000016.8:g.5069101G>T	NCBI36
NG_009202.1:g.12291G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.898G>T MANE Select	NP_061982.3:p.Glu300Ter
ENST00000262374.10:c.898G>T MANE Select	ENSP00000262374.5:p.Glu300Ter
NM_001330504.1:c.565G>T	NP_001317433.1:p.Glu189Ter
NM_001330504.2:c.565G>T	NP_001317433.1:p.Glu189Ter
NM_019109.4:c.898G>T	NP_061982.3:p.Glu300Ter
ENST00000262374.9:c.898G>T	ENSP00000262374.4:p.Glu300Ter
ENST00000544428.1:c.565G>T	ENSP00000440019.1:p.Glu189Ter
ENST00000588623.5:c.565G>T	ENSP00000468118.1:p.Glu189Ter
ENST00000591822.5:c.*799G>T	ENSP00000467865.1:n.*799G>T
ENST00000592793.6:n.3034G>T
ENST00000650085.1:n.1718G>T
ENST00000682020.1:c.304G>T	ENSP00000508075.1:p.Glu102Ter
ENST00000682206.1:c.898G>T	ENSP00000508285.1:p.Glu300Ter
ENST00000682314.1:n.942G>T
ENST00000682327.1:c.373+221G>T	ENSP00000507058.1:n.373+221G>T
ENST00000682349.1:n.3036G>T
ENST00000682703.1:n.3221G>T
ENST00000682797.1:c.898G>T	ENSP00000507582.1:p.Glu300Ter
ENST00000682985.1:c.409G>T	ENSP00000507598.1:p.Glu137Ter
ENST00000683433.1:c.157+221G>T	ENSP00000507463.1:n.157+221G>T
ENST00000683685.1:n.1127G>T
ENST00000683710.1:c.*861G>T	ENSP00000506785.1:n.*861G>T
ENST00000683739.1:c.565G>T	ENSP00000507002.1:p.Glu189Ter
ENST00000683772.1:n.942G>T
ENST00000684008.1:c.832G>T	ENSP00000507962.1:p.Glu278Ter
ENST00000684190.1:c.862+221G>T	ENSP00000507554.1:n.862+221G>T
ENST00000684335.1:c.898G>T	ENSP00000508112.1:p.Glu300Ter
XM_011522565.1:c.565G>T	XP_011520867.1:p.Glu189Ter
XM_017023457.2:c.862+221G>T	XP_016878946.1:n.862+221G>T
XM_017023458.1:c.565G>T	XP_016878947.1:p.Glu189Ter
XR_932882.1:n.939G>T
XR_932882.3:n.923G>T