Canonical Allele Identifier: CA394673729

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5132566C>G (hg19) ; chr16:g.5082565C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082565C>G , CM000678.2:g.5082565C>G	GRCh38
NC_000016.9:g.5132566C>G , CM000678.1:g.5132566C>G	GRCh37
NC_000016.8:g.5072567C>G	NCBI36
NG_009202.1:g.15757C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3215C>G
ENST00000682020.1:c.485C>G	ENSP00000508075.1:p.Ala162Gly
ENST00000682206.1:c.*174C>G	ENSP00000508285.1:n.*174C>G
ENST00000682314.1:n.1127C>G
ENST00000682327.1:c.551C>G	ENSP00000507058.1:p.Ala184Gly
ENST00000682349.1:n.3221C>G
ENST00000682703.1:n.4047C>G
ENST00000682797.1:c.*171C>G	ENSP00000507582.1:n.*171C>G
ENST00000682985.1:c.590C>G	ENSP00000507598.1:p.Ala197Gly
ENST00000683433.1:c.338C>G	ENSP00000507463.1:p.Ala113Gly
ENST00000683685.1:n.1953C>G
ENST00000683710.1:c.*1046C>G	ENSP00000506785.1:n.*1046C>G
ENST00000683739.1:c.746C>G	ENSP00000507002.1:p.Ala249Gly
ENST00000683772.1:n.1123C>G
ENST00000684008.1:c.1017C>G	ENSP00000507962.1:n.1017C>G
ENST00000684190.1:c.1040C>G	ENSP00000507554.1:p.Ala347Gly
ENST00000684335.1:c.968C>G	ENSP00000508112.1:p.Ala323Gly
ENST00000262374.10:c.1079C>G MANE Select	ENSP00000262374.5:p.Ala360Gly
ENST00000650085.1:n.1903C>G
ENST00000262374.9:c.1079C>G	ENSP00000262374.4:p.Ala360Gly
ENST00000544428.1:c.746C>G	ENSP00000440019.1:p.Ala249Gly
ENST00000588623.5:c.746C>G	ENSP00000468118.1:p.Ala249Gly
ENST00000591822.5:c.*980C>G	ENSP00000467865.1:n.*980C>G
NM_019109.4:c.1079C>G	NP_061982.3:p.Ala360Gly
XM_011522565.1:c.746C>G	XP_011520867.1:p.Ala249Gly
NM_001330504.1:c.746C>G	NP_001317433.1:p.Ala249Gly
XM_017023457.2:c.1040C>G	XP_016878946.1:p.Ala347Gly
XM_017023458.1:c.746C>G	XP_016878947.1:p.Ala249Gly
XR_932882.3:n.1108C>G
NM_019109.5:c.1079C>G MANE Select	NP_061982.3:p.Ala360Gly
NM_001330504.2:c.746C>G	NP_001317433.1:p.Ala249Gly