Canonical Allele Identifier: CA394673895

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082631T>A , CM000678.2:g.5082631T>A	GRCh38
NC_000016.9:g.5132632T>A , CM000678.1:g.5132632T>A	GRCh37
NC_000016.8:g.5072633T>A	NCBI36
NG_009202.1:g.15823T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1145T>A MANE Select	NP_061982.3:p.Met382Lys
ENST00000262374.10:c.1145T>A MANE Select	ENSP00000262374.5:p.Met382Lys
NM_001330504.1:c.812T>A	NP_001317433.1:p.Met271Lys
NM_001330504.2:c.812T>A	NP_001317433.1:p.Met271Lys
NM_019109.4:c.1145T>A	NP_061982.3:p.Met382Lys
ENST00000262374.9:c.1145T>A	ENSP00000262374.4:p.Met382Lys
ENST00000544428.1:c.812T>A	ENSP00000440019.1:p.Met271Lys
ENST00000588623.5:c.812T>A	ENSP00000468118.1:p.Met271Lys
ENST00000591822.5:c.*1046T>A	ENSP00000467865.1:n.*1046T>A
ENST00000592793.6:n.3281T>A
ENST00000650085.1:n.1969T>A
ENST00000682020.1:c.551T>A	ENSP00000508075.1:p.Met184Lys
ENST00000682206.1:c.*240T>A	ENSP00000508285.1:n.*240T>A
ENST00000682314.1:n.1193T>A
ENST00000682327.1:c.617T>A	ENSP00000507058.1:p.Met206Lys
ENST00000682349.1:n.3287T>A
ENST00000682703.1:n.4113T>A
ENST00000682797.1:c.*237T>A	ENSP00000507582.1:n.*237T>A
ENST00000682985.1:c.656T>A	ENSP00000507598.1:p.Met219Lys
ENST00000683433.1:c.404T>A	ENSP00000507463.1:p.Met135Lys
ENST00000683685.1:n.2019T>A
ENST00000683710.1:c.*1112T>A	ENSP00000506785.1:n.*1112T>A
ENST00000683739.1:c.812T>A	ENSP00000507002.1:p.Met271Lys
ENST00000683772.1:n.1189T>A
ENST00000684008.1:c.1083T>A	ENSP00000507962.1:n.1083T>A
ENST00000684190.1:c.1106T>A	ENSP00000507554.1:p.Met369Lys
ENST00000684335.1:c.1034T>A	ENSP00000508112.1:p.Met345Lys
XM_011522565.1:c.812T>A	XP_011520867.1:p.Met271Lys
XM_017023457.2:c.1106T>A	XP_016878946.1:p.Met369Lys
XM_017023458.1:c.812T>A	XP_016878947.1:p.Met271Lys
XR_932882.3:n.1174T>A