Canonical Allele Identifier: CA394672730

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5130997T>A (hg19) ; chr16:g.5080996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080996T>A , CM000678.2:g.5080996T>A	GRCh38
NC_000016.9:g.5130997T>A , CM000678.1:g.5130997T>A	GRCh37
NC_000016.8:g.5070998T>A	NCBI36
NG_009202.1:g.14188T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3148T>A
ENST00000682020.1:c.418T>A	ENSP00000508075.1:p.Phe140Ile
ENST00000682206.1:c.*104T>A	ENSP00000508285.1:n.*104T>A
ENST00000682314.1:n.1060T>A
ENST00000682327.1:c.484T>A	ENSP00000507058.1:p.Phe162Ile
ENST00000682349.1:n.3154T>A
ENST00000682703.1:n.3980T>A
ENST00000682797.1:c.*104T>A	ENSP00000507582.1:n.*104T>A
ENST00000682985.1:c.523T>A	ENSP00000507598.1:p.Phe175Ile
ENST00000683433.1:c.268T>A	ENSP00000507463.1:p.Phe90Ile
ENST00000683685.1:n.1886T>A
ENST00000683710.1:c.*979T>A	ENSP00000506785.1:n.*979T>A
ENST00000683739.1:c.679T>A	ENSP00000507002.1:p.Phe227Ile
ENST00000683772.1:n.1056T>A
ENST00000684008.1:c.950T>A	ENSP00000507962.1:n.950T>A
ENST00000684190.1:c.973T>A	ENSP00000507554.1:p.Phe325Ile
ENST00000684335.1:c.961+1189T>A	ENSP00000508112.1:n.961+1189T>A
ENST00000262374.10:c.1012T>A MANE Select	ENSP00000262374.5:p.Phe338Ile
ENST00000650085.1:n.1836T>A
ENST00000262374.9:c.1012T>A	ENSP00000262374.4:p.Phe338Ile
ENST00000544428.1:c.679T>A	ENSP00000440019.1:p.Phe227Ile
ENST00000588623.5:c.679T>A	ENSP00000468118.1:p.Phe227Ile
ENST00000591822.5:c.*913T>A	ENSP00000467865.1:n.*913T>A
NM_019109.4:c.1012T>A	NP_061982.3:p.Phe338Ile
XM_011522565.1:c.679T>A	XP_011520867.1:p.Phe227Ile
NM_001330504.1:c.679T>A	NP_001317433.1:p.Phe227Ile
XM_017023457.2:c.973T>A	XP_016878946.1:p.Phe325Ile
XM_017023458.1:c.679T>A	XP_016878947.1:p.Phe227Ile
XR_932882.3:n.1041T>A
NM_019109.5:c.1012T>A MANE Select	NP_061982.3:p.Phe338Ile
NM_001330504.2:c.679T>A	NP_001317433.1:p.Phe227Ile