Canonical Allele Identifier: CA7890239

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082632G>A , CM000678.2:g.5082632G>A	GRCh38
NC_000016.9:g.5132633G>A , CM000678.1:g.5132633G>A	GRCh37
NC_000016.8:g.5072634G>A	NCBI36
NG_009202.1:g.15824G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1146G>A MANE Select	NP_061982.3:p.Met382Ile
ENST00000262374.10:c.1146G>A MANE Select	ENSP00000262374.5:p.Met382Ile
NM_001330504.1:c.813G>A	NP_001317433.1:p.Met271Ile
NM_001330504.2:c.813G>A	NP_001317433.1:p.Met271Ile
NM_019109.4:c.1146G>A	NP_061982.3:p.Met382Ile
ENST00000262374.9:c.1146G>A	ENSP00000262374.4:p.Met382Ile
ENST00000544428.1:c.813G>A	ENSP00000440019.1:p.Met271Ile
ENST00000588623.5:c.813G>A	ENSP00000468118.1:p.Met271Ile
ENST00000591822.5:c.*1047G>A	ENSP00000467865.1:n.*1047G>A
ENST00000592793.6:n.3282G>A
ENST00000650085.1:n.1970G>A
ENST00000682020.1:c.552G>A	ENSP00000508075.1:p.Met184Ile
ENST00000682206.1:c.*241G>A	ENSP00000508285.1:n.*241G>A
ENST00000682314.1:n.1194G>A
ENST00000682327.1:c.618G>A	ENSP00000507058.1:p.Met206Ile
ENST00000682349.1:n.3288G>A
ENST00000682703.1:n.4114G>A
ENST00000682797.1:c.*238G>A	ENSP00000507582.1:n.*238G>A
ENST00000682985.1:c.657G>A	ENSP00000507598.1:p.Met219Ile
ENST00000683433.1:c.405G>A	ENSP00000507463.1:p.Met135Ile
ENST00000683685.1:n.2020G>A
ENST00000683710.1:c.*1113G>A	ENSP00000506785.1:n.*1113G>A
ENST00000683739.1:c.813G>A	ENSP00000507002.1:p.Met271Ile
ENST00000683772.1:n.1190G>A
ENST00000684008.1:c.1084G>A	ENSP00000507962.1:n.1084G>A
ENST00000684190.1:c.1107G>A	ENSP00000507554.1:p.Met369Ile
ENST00000684335.1:c.1035G>A	ENSP00000508112.1:p.Met345Ile
XM_011522565.1:c.813G>A	XP_011520867.1:p.Met271Ile
XM_017023457.2:c.1107G>A	XP_016878946.1:p.Met369Ile
XM_017023458.1:c.813G>A	XP_016878947.1:p.Met271Ile
XR_932882.3:n.1175G>A