Canonical Allele Identifier: CA394680420

Gene: ALG1

Linked Data

• ClinVar Variation Id: 690326
• ClinVar RCV Id: RCV000851238 ; RCV001869290
• dbSNP Id: rs121908340
• MyVariant Identifiers: chr16:g.5125448C>A (hg19) ; chr16:g.5075447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5075447C>A , CM000678.2:g.5075447C>A	GRCh38
NC_000016.9:g.5125448C>A , CM000678.1:g.5125448C>A	GRCh37
NC_000016.8:g.5065449C>A	NCBI36
NG_009202.1:g.8639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2588C>A
ENST00000682020.1:c.-55-1998C>A	ENSP00000508075.1:n.-55-1998C>A
ENST00000682206.1:c.450C>A	ENSP00000508285.1:p.Ser150Arg
ENST00000682314.1:n.494C>A
ENST00000682327.1:c.-40C>A	ENSP00000507058.1:n.-40C>A
ENST00000682349.1:n.2588C>A
ENST00000682703.1:n.2588C>A
ENST00000682797.1:c.450C>A	ENSP00000507582.1:p.Ser150Arg
ENST00000682985.1:c.-40C>A	ENSP00000507598.1:n.-40C>A
ENST00000683433.1:c.-55-1998C>A	ENSP00000507463.1:n.-55-1998C>A
ENST00000683685.1:n.494C>A
ENST00000683710.1:c.*413C>A	ENSP00000506785.1:n.*413C>A
ENST00000683739.1:c.117C>A	ENSP00000507002.1:p.Ser39Arg
ENST00000683772.1:n.494C>A
ENST00000684008.1:c.384C>A	ENSP00000507962.1:p.Ser128Arg
ENST00000684190.1:c.450C>A	ENSP00000507554.1:p.Ser150Arg
ENST00000684335.1:c.450C>A	ENSP00000508112.1:p.Ser150Arg
ENST00000262374.10:c.450C>A MANE Select	ENSP00000262374.5:p.Ser150Arg
ENST00000650085.1:n.1270C>A
ENST00000262374.9:c.450C>A	ENSP00000262374.4:p.Ser150Arg
ENST00000544428.1:c.117C>A	ENSP00000440019.1:p.Ser39Arg
ENST00000586840.1:c.440C>A	ENSP00000467538.1:p.Ala147Glu
ENST00000588623.5:c.117C>A	ENSP00000468118.1:p.Ser39Arg
ENST00000591783.5:c.117C>A	ENSP00000464700.1:p.Ser39Arg
ENST00000591822.5:c.*351C>A	ENSP00000467865.1:n.*351C>A
NM_019109.4:c.450C>A	NP_061982.3:p.Ser150Arg
XM_011522565.1:c.117C>A	XP_011520867.1:p.Ser39Arg
XR_932882.1:n.491C>A
NM_001330504.1:c.117C>A	NP_001317433.1:p.Ser39Arg
XM_017023457.2:c.450C>A	XP_016878946.1:p.Ser150Arg
XM_017023458.1:c.117C>A	XP_016878947.1:p.Ser39Arg
XR_932882.3:n.475C>A
NM_019109.5:c.450C>A MANE Select	NP_061982.3:p.Ser150Arg
NM_001330504.2:c.117C>A	NP_001317433.1:p.Ser39Arg