Canonical Allele Identifier: CA394681834

Gene: ALG1

Linked Data

• ClinVar Variation Id: 1365848
• ClinVar RCV Id: RCV001942816
• dbSNP Id: rs1364564952
• gnomAD v2: 16-5128849-G-A
• gnomAD v3: 16-5078848-G-A
• gnomAD v4: 16-5078848-G-A
• MyVariant Identifiers: chr16:g.5128849G>A (hg19) ; chr16:g.5078848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078848G>A , CM000678.2:g.5078848G>A	GRCh38
NC_000016.9:g.5128849G>A , CM000678.1:g.5128849G>A	GRCh37
NC_000016.8:g.5068850G>A	NCBI36
NG_009202.1:g.12040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2970G>A
ENST00000682020.1:c.238G>A	ENSP00000508075.1:p.Ala80Thr
ENST00000682206.1:c.832G>A	ENSP00000508285.1:p.Ala278Thr
ENST00000682314.1:n.876G>A
ENST00000682327.1:c.343G>A	ENSP00000507058.1:p.Ala115Thr
ENST00000682349.1:n.2970G>A
ENST00000682703.1:n.2970G>A
ENST00000682797.1:c.832G>A	ENSP00000507582.1:p.Ala278Thr
ENST00000682985.1:c.343G>A	ENSP00000507598.1:p.Ala115Thr
ENST00000683433.1:c.127G>A	ENSP00000507463.1:p.Ala43Thr
ENST00000683685.1:n.876G>A
ENST00000683710.1:c.*795G>A	ENSP00000506785.1:n.*795G>A
ENST00000683739.1:c.499G>A	ENSP00000507002.1:p.Ala167Thr
ENST00000683772.1:n.876G>A
ENST00000684008.1:c.766G>A	ENSP00000507962.1:p.Ala256Thr
ENST00000684190.1:c.832G>A	ENSP00000507554.1:p.Ala278Thr
ENST00000684335.1:c.832G>A	ENSP00000508112.1:p.Ala278Thr
ENST00000262374.10:c.832G>A MANE Select	ENSP00000262374.5:p.Ala278Thr
ENST00000650085.1:n.1652G>A
ENST00000262374.9:c.832G>A	ENSP00000262374.4:p.Ala278Thr
ENST00000544428.1:c.499G>A	ENSP00000440019.1:p.Ala167Thr
ENST00000588623.5:c.499G>A	ENSP00000468118.1:p.Ala167Thr
ENST00000591783.5:c.499G>A	ENSP00000464700.1:p.Ala167Thr
ENST00000591822.5:c.*733G>A	ENSP00000467865.1:n.*733G>A
NM_019109.4:c.832G>A	NP_061982.3:p.Ala278Thr
XM_011522565.1:c.499G>A	XP_011520867.1:p.Ala167Thr
XR_932882.1:n.873G>A
NM_001330504.1:c.499G>A	NP_001317433.1:p.Ala167Thr
XM_017023457.2:c.832G>A	XP_016878946.1:p.Ala278Thr
XM_017023458.1:c.499G>A	XP_016878947.1:p.Ala167Thr
XR_932882.3:n.857G>A
NM_019109.5:c.832G>A MANE Select	NP_061982.3:p.Ala278Thr
NM_001330504.2:c.499G>A	NP_001317433.1:p.Ala167Thr