Canonical Allele Identifier: CA394673747

Gene: ALG1

Linked Data

• dbSNP Id: rs1364157187
• gnomAD v2: 16-5132570-C-G
• gnomAD v3: 16-5082569-C-G
• gnomAD v4: 16-5082569-C-G
• MyVariant Identifiers: chr16:g.5132570C>G (hg19) ; chr16:g.5082569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082569C>G , CM000678.2:g.5082569C>G	GRCh38
NC_000016.9:g.5132570C>G , CM000678.1:g.5132570C>G	GRCh37
NC_000016.8:g.5072571C>G	NCBI36
NG_009202.1:g.15761C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3219C>G
ENST00000682020.1:c.489C>G	ENSP00000508075.1:p.Asp163Glu
ENST00000682206.1:c.*178C>G	ENSP00000508285.1:n.*178C>G
ENST00000682314.1:n.1131C>G
ENST00000682327.1:c.555C>G	ENSP00000507058.1:p.Asp185Glu
ENST00000682349.1:n.3225C>G
ENST00000682703.1:n.4051C>G
ENST00000682797.1:c.*175C>G	ENSP00000507582.1:n.*175C>G
ENST00000682985.1:c.594C>G	ENSP00000507598.1:p.Asp198Glu
ENST00000683433.1:c.342C>G	ENSP00000507463.1:p.Asp114Glu
ENST00000683685.1:n.1957C>G
ENST00000683710.1:c.*1050C>G	ENSP00000506785.1:n.*1050C>G
ENST00000683739.1:c.750C>G	ENSP00000507002.1:p.Asp250Glu
ENST00000683772.1:n.1127C>G
ENST00000684008.1:c.1021C>G	ENSP00000507962.1:n.1021C>G
ENST00000684190.1:c.1044C>G	ENSP00000507554.1:p.Asp348Glu
ENST00000684335.1:c.972C>G	ENSP00000508112.1:p.Asp324Glu
ENST00000262374.10:c.1083C>G MANE Select	ENSP00000262374.5:p.Asp361Glu
ENST00000650085.1:n.1907C>G
ENST00000262374.9:c.1083C>G	ENSP00000262374.4:p.Asp361Glu
ENST00000544428.1:c.750C>G	ENSP00000440019.1:p.Asp250Glu
ENST00000588623.5:c.750C>G	ENSP00000468118.1:p.Asp250Glu
ENST00000591822.5:c.*984C>G	ENSP00000467865.1:n.*984C>G
NM_019109.4:c.1083C>G	NP_061982.3:p.Asp361Glu
XM_011522565.1:c.750C>G	XP_011520867.1:p.Asp250Glu
NM_001330504.1:c.750C>G	NP_001317433.1:p.Asp250Glu
XM_017023457.2:c.1044C>G	XP_016878946.1:p.Asp348Glu
XM_017023458.1:c.750C>G	XP_016878947.1:p.Asp250Glu
XR_932882.3:n.1112C>G
NM_019109.5:c.1083C>G MANE Select	NP_061982.3:p.Asp361Glu
NM_001330504.2:c.750C>G	NP_001317433.1:p.Asp250Glu