Canonical Allele Identifier: CA7890293

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5083757G>A , CM000678.2:g.5083757G>A	GRCh38
NC_000016.9:g.5133758G>A , CM000678.1:g.5133758G>A	GRCh37
NC_000016.8:g.5073759G>A	NCBI36
NG_009202.1:g.16949G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1263G>A MANE Select	NP_061982.3:p.Gln421=
ENST00000262374.10:c.1263G>A MANE Select	ENSP00000262374.5:p.Gln421=
NM_001330504.1:c.930G>A	NP_001317433.1:p.Gln310=
NM_001330504.2:c.930G>A	NP_001317433.1:p.Gln310=
NM_019109.4:c.1263G>A	NP_061982.3:p.Gln421=
ENST00000262374.9:c.1263G>A	ENSP00000262374.4:p.Gln421=
ENST00000544428.1:c.930G>A	ENSP00000440019.1:p.Gln310=
ENST00000588623.5:c.930G>A	ENSP00000468118.1:p.Gln310=
ENST00000591822.5:c.*1164G>A	ENSP00000467865.1:n.*1164G>A
ENST00000592793.6:n.3399G>A
ENST00000650085.1:n.2087G>A
ENST00000682020.1:c.669G>A	ENSP00000508075.1:p.Gln223=
ENST00000682206.1:c.*358G>A	ENSP00000508285.1:n.*358G>A
ENST00000682314.1:n.2319G>A
ENST00000682327.1:c.735G>A	ENSP00000507058.1:p.Gln245=
ENST00000682349.1:n.3405G>A
ENST00000682703.1:n.5239G>A
ENST00000682797.1:c.*355G>A	ENSP00000507582.1:n.*355G>A
ENST00000682985.1:c.774G>A	ENSP00000507598.1:p.Gln258=
ENST00000683433.1:c.522G>A	ENSP00000507463.1:p.Gln174=
ENST00000683685.1:n.3145G>A
ENST00000683710.1:c.*1230G>A	ENSP00000506785.1:n.*1230G>A
ENST00000683739.1:c.930G>A	ENSP00000507002.1:p.Gln310=
ENST00000683772.1:n.2315G>A
ENST00000684008.1:c.1201G>A	ENSP00000507962.1:n.1201G>A
ENST00000684190.1:c.1224G>A	ENSP00000507554.1:p.Gln408=
ENST00000684335.1:c.1152G>A	ENSP00000508112.1:p.Gln384=
XM_011522565.1:c.930G>A	XP_011520867.1:p.Gln310=
XM_017023457.2:c.1224G>A	XP_016878946.1:p.Gln408=
XM_017023458.1:c.930G>A	XP_016878947.1:p.Gln310=
XR_932882.3:n.1292G>A