Canonical Allele Identifier: CA493335435

Gene: ALG1

Linked Data

• gnomAD v4: 16-5080977-C-A
• MyVariant Identifiers: chr16:g.5130978C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080977C>A , CM000678.2:g.5080977C>A	GRCh38
NC_000016.9:g.5130978C>A , CM000678.1:g.5130978C>A	GRCh37
NC_000016.8:g.5070979C>A	NCBI36
NG_009202.1:g.14169C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3129C>A
ENST00000682020.1:c.399C>A	ENSP00000508075.1:p.Arg133=
ENST00000682206.1:c.*85C>A	ENSP00000508285.1:n.*85C>A
ENST00000682314.1:n.1041C>A
ENST00000682327.1:c.465C>A	ENSP00000507058.1:p.Arg155=
ENST00000682349.1:n.3135C>A
ENST00000682703.1:n.3961C>A
ENST00000682797.1:c.*85C>A	ENSP00000507582.1:n.*85C>A
ENST00000682985.1:c.504C>A	ENSP00000507598.1:p.Arg168=
ENST00000683433.1:c.249C>A	ENSP00000507463.1:p.Arg83=
ENST00000683685.1:n.1867C>A
ENST00000683710.1:c.*960C>A	ENSP00000506785.1:n.*960C>A
ENST00000683739.1:c.660C>A	ENSP00000507002.1:p.Arg220=
ENST00000683772.1:n.1037C>A
ENST00000684008.1:c.931C>A	ENSP00000507962.1:n.931C>A
ENST00000684190.1:c.954C>A	ENSP00000507554.1:p.Arg318=
ENST00000684335.1:c.961+1170C>A	ENSP00000508112.1:n.961+1170C>A
ENST00000262374.10:c.993C>A MANE Select	ENSP00000262374.5:p.Arg331=
ENST00000650085.1:n.1817C>A
ENST00000262374.9:c.993C>A	ENSP00000262374.4:p.Arg331=
ENST00000544428.1:c.660C>A	ENSP00000440019.1:p.Arg220=
ENST00000588623.5:c.660C>A	ENSP00000468118.1:p.Arg220=
ENST00000591822.5:c.*894C>A	ENSP00000467865.1:n.*894C>A
NM_019109.4:c.993C>A	NP_061982.3:p.Arg331=
XM_011522565.1:c.660C>A	XP_011520867.1:p.Arg220=
XR_932882.1:n.1038C>A
NM_001330504.1:c.660C>A	NP_001317433.1:p.Arg220=
XM_017023457.2:c.954C>A	XP_016878946.1:p.Arg318=
XM_017023458.1:c.660C>A	XP_016878947.1:p.Arg220=
XR_932882.3:n.1022C>A
NM_019109.5:c.993C>A MANE Select	NP_061982.3:p.Arg331=
NM_001330504.2:c.660C>A	NP_001317433.1:p.Arg220=