Canonical Allele Identifier: CA394681697

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5128769A>C (hg19) ; chr16:g.5078768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078768A>C , CM000678.2:g.5078768A>C	GRCh38
NC_000016.9:g.5128769A>C , CM000678.1:g.5128769A>C	GRCh37
NC_000016.8:g.5068770A>C	NCBI36
NG_009202.1:g.11960A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2890A>C
ENST00000682020.1:c.158A>C	ENSP00000508075.1:p.Glu53Ala
ENST00000682206.1:c.752A>C	ENSP00000508285.1:p.Glu251Ala
ENST00000682314.1:n.796A>C
ENST00000682327.1:c.263A>C	ENSP00000507058.1:p.Glu88Ala
ENST00000682349.1:n.2890A>C
ENST00000682703.1:n.2890A>C
ENST00000682797.1:c.752A>C	ENSP00000507582.1:p.Glu251Ala
ENST00000682985.1:c.263A>C	ENSP00000507598.1:p.Glu88Ala
ENST00000683433.1:c.47A>C	ENSP00000507463.1:p.Glu16Ala
ENST00000683685.1:n.796A>C
ENST00000683710.1:c.*715A>C	ENSP00000506785.1:n.*715A>C
ENST00000683739.1:c.419A>C	ENSP00000507002.1:p.Glu140Ala
ENST00000683772.1:n.796A>C
ENST00000684008.1:c.686A>C	ENSP00000507962.1:p.Glu229Ala
ENST00000684190.1:c.752A>C	ENSP00000507554.1:p.Glu251Ala
ENST00000684335.1:c.752A>C	ENSP00000508112.1:p.Glu251Ala
ENST00000262374.10:c.752A>C MANE Select	ENSP00000262374.5:p.Glu251Ala
ENST00000650085.1:n.1572A>C
ENST00000262374.9:c.752A>C	ENSP00000262374.4:p.Glu251Ala
ENST00000544428.1:c.419A>C	ENSP00000440019.1:p.Glu140Ala
ENST00000588623.5:c.419A>C	ENSP00000468118.1:p.Glu140Ala
ENST00000591783.5:c.419A>C	ENSP00000464700.1:p.Glu140Ala
ENST00000591822.5:c.*653A>C	ENSP00000467865.1:n.*653A>C
NM_019109.4:c.752A>C	NP_061982.3:p.Glu251Ala
XM_011522565.1:c.419A>C	XP_011520867.1:p.Glu140Ala
XR_932882.1:n.793A>C
NM_001330504.1:c.419A>C	NP_001317433.1:p.Glu140Ala
XM_017023457.2:c.752A>C	XP_016878946.1:p.Glu251Ala
XM_017023458.1:c.419A>C	XP_016878947.1:p.Glu140Ala
XR_932882.3:n.777A>C
NM_019109.5:c.752A>C MANE Select	NP_061982.3:p.Glu251Ala
NM_001330504.2:c.419A>C	NP_001317433.1:p.Glu140Ala