Canonical Allele Identifier: CA493335490

Gene: ALG1

Linked Data

• dbSNP Id: rs1472553656
• gnomAD v2: 16-5132573-G-A
• gnomAD v4: 16-5082572-G-A
• MyVariant Identifiers: chr16:g.5132573G>A (hg19) ; chr16:g.5082572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082572G>A , CM000678.2:g.5082572G>A	GRCh38
NC_000016.9:g.5132573G>A , CM000678.1:g.5132573G>A	GRCh37
NC_000016.8:g.5072574G>A	NCBI36
NG_009202.1:g.15764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3222G>A
ENST00000682020.1:c.492G>A	ENSP00000508075.1:p.Leu164=
ENST00000682206.1:c.*181G>A	ENSP00000508285.1:n.*181G>A
ENST00000682314.1:n.1134G>A
ENST00000682327.1:c.558G>A	ENSP00000507058.1:p.Leu186=
ENST00000682349.1:n.3228G>A
ENST00000682703.1:n.4054G>A
ENST00000682797.1:c.*178G>A	ENSP00000507582.1:n.*178G>A
ENST00000682985.1:c.597G>A	ENSP00000507598.1:p.Leu199=
ENST00000683433.1:c.345G>A	ENSP00000507463.1:p.Leu115=
ENST00000683685.1:n.1960G>A
ENST00000683710.1:c.*1053G>A	ENSP00000506785.1:n.*1053G>A
ENST00000683739.1:c.753G>A	ENSP00000507002.1:p.Leu251=
ENST00000683772.1:n.1130G>A
ENST00000684008.1:c.1024G>A	ENSP00000507962.1:n.1024G>A
ENST00000684190.1:c.1047G>A	ENSP00000507554.1:p.Leu349=
ENST00000684335.1:c.975G>A	ENSP00000508112.1:p.Leu325=
ENST00000262374.10:c.1086G>A MANE Select	ENSP00000262374.5:p.Leu362=
ENST00000650085.1:n.1910G>A
ENST00000262374.9:c.1086G>A	ENSP00000262374.4:p.Leu362=
ENST00000544428.1:c.753G>A	ENSP00000440019.1:p.Leu251=
ENST00000588623.5:c.753G>A	ENSP00000468118.1:p.Leu251=
ENST00000591822.5:c.*987G>A	ENSP00000467865.1:n.*987G>A
NM_019109.4:c.1086G>A	NP_061982.3:p.Leu362=
XM_011522565.1:c.753G>A	XP_011520867.1:p.Leu251=
NM_001330504.1:c.753G>A	NP_001317433.1:p.Leu251=
XM_017023457.2:c.1047G>A	XP_016878946.1:p.Leu349=
XM_017023458.1:c.753G>A	XP_016878947.1:p.Leu251=
XR_932882.3:n.1115G>A
NM_019109.5:c.1086G>A MANE Select	NP_061982.3:p.Leu362=
NM_001330504.2:c.753G>A	NP_001317433.1:p.Leu251=