Canonical Allele Identifier: CA394681679

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5128762G>C (hg19) ; chr16:g.5078761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078761G>C , CM000678.2:g.5078761G>C	GRCh38
NC_000016.9:g.5128762G>C , CM000678.1:g.5128762G>C	GRCh37
NC_000016.8:g.5068763G>C	NCBI36
NG_009202.1:g.11953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2883G>C
ENST00000682020.1:c.151G>C	ENSP00000508075.1:p.Glu51Gln
ENST00000682206.1:c.745G>C	ENSP00000508285.1:p.Glu249Gln
ENST00000682314.1:n.789G>C
ENST00000682327.1:c.256G>C	ENSP00000507058.1:p.Glu86Gln
ENST00000682349.1:n.2883G>C
ENST00000682703.1:n.2883G>C
ENST00000682797.1:c.745G>C	ENSP00000507582.1:p.Glu249Gln
ENST00000682985.1:c.256G>C	ENSP00000507598.1:p.Glu86Gln
ENST00000683433.1:c.40G>C	ENSP00000507463.1:p.Glu14Gln
ENST00000683685.1:n.789G>C
ENST00000683710.1:c.*708G>C	ENSP00000506785.1:n.*708G>C
ENST00000683739.1:c.412G>C	ENSP00000507002.1:p.Glu138Gln
ENST00000683772.1:n.789G>C
ENST00000684008.1:c.679G>C	ENSP00000507962.1:p.Glu227Gln
ENST00000684190.1:c.745G>C	ENSP00000507554.1:p.Glu249Gln
ENST00000684335.1:c.745G>C	ENSP00000508112.1:p.Glu249Gln
ENST00000262374.10:c.745G>C MANE Select	ENSP00000262374.5:p.Glu249Gln
ENST00000650085.1:n.1565G>C
ENST00000262374.9:c.745G>C	ENSP00000262374.4:p.Glu249Gln
ENST00000544428.1:c.412G>C	ENSP00000440019.1:p.Glu138Gln
ENST00000588623.5:c.412G>C	ENSP00000468118.1:p.Glu138Gln
ENST00000591783.5:c.412G>C	ENSP00000464700.1:p.Glu138Gln
ENST00000591822.5:c.*646G>C	ENSP00000467865.1:n.*646G>C
NM_019109.4:c.745G>C	NP_061982.3:p.Glu249Gln
XM_011522565.1:c.412G>C	XP_011520867.1:p.Glu138Gln
XR_932882.1:n.786G>C
NM_001330504.1:c.412G>C	NP_001317433.1:p.Glu138Gln
XM_017023457.2:c.745G>C	XP_016878946.1:p.Glu249Gln
XM_017023458.1:c.412G>C	XP_016878947.1:p.Glu138Gln
XR_932882.3:n.770G>C
NM_019109.5:c.745G>C MANE Select	NP_061982.3:p.Glu249Gln
NM_001330504.2:c.412G>C	NP_001317433.1:p.Glu138Gln