Canonical Allele Identifier: CA493335320

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5128848A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078847A>G , CM000678.2:g.5078847A>G	GRCh38
NC_000016.9:g.5128848A>G , CM000678.1:g.5128848A>G	GRCh37
NC_000016.8:g.5068849A>G	NCBI36
NG_009202.1:g.12039A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.2969A>G
ENST00000682020.1:c.237A>G	ENSP00000508075.1:p.Pro79=
ENST00000682206.1:c.831A>G	ENSP00000508285.1:p.Pro277=
ENST00000682314.1:n.875A>G
ENST00000682327.1:c.342A>G	ENSP00000507058.1:p.Pro114=
ENST00000682349.1:n.2969A>G
ENST00000682703.1:n.2969A>G
ENST00000682797.1:c.831A>G	ENSP00000507582.1:p.Pro277=
ENST00000682985.1:c.342A>G	ENSP00000507598.1:p.Pro114=
ENST00000683433.1:c.126A>G	ENSP00000507463.1:p.Pro42=
ENST00000683685.1:n.875A>G
ENST00000683710.1:c.*794A>G	ENSP00000506785.1:n.*794A>G
ENST00000683739.1:c.498A>G	ENSP00000507002.1:p.Pro166=
ENST00000683772.1:n.875A>G
ENST00000684008.1:c.765A>G	ENSP00000507962.1:p.Pro255=
ENST00000684190.1:c.831A>G	ENSP00000507554.1:p.Pro277=
ENST00000684335.1:c.831A>G	ENSP00000508112.1:p.Pro277=
ENST00000262374.10:c.831A>G MANE Select	ENSP00000262374.5:p.Pro277=
ENST00000650085.1:n.1651A>G
ENST00000262374.9:c.831A>G	ENSP00000262374.4:p.Pro277=
ENST00000544428.1:c.498A>G	ENSP00000440019.1:p.Pro166=
ENST00000588623.5:c.498A>G	ENSP00000468118.1:p.Pro166=
ENST00000591783.5:c.498A>G	ENSP00000464700.1:p.Pro166=
ENST00000591822.5:c.*732A>G	ENSP00000467865.1:n.*732A>G
NM_019109.4:c.831A>G	NP_061982.3:p.Pro277=
XM_011522565.1:c.498A>G	XP_011520867.1:p.Pro166=
XR_932882.1:n.872A>G
NM_001330504.1:c.498A>G	NP_001317433.1:p.Pro166=
XM_017023457.2:c.831A>G	XP_016878946.1:p.Pro277=
XM_017023458.1:c.498A>G	XP_016878947.1:p.Pro166=
XR_932882.3:n.856A>G
NM_019109.5:c.831A>G MANE Select	NP_061982.3:p.Pro277=
NM_001330504.2:c.498A>G	NP_001317433.1:p.Pro166=