Canonical Allele Identifier: CA394673762

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5132574G>T (hg19) ; chr16:g.5082573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082573G>T , CM000678.2:g.5082573G>T	GRCh38
NC_000016.9:g.5132574G>T , CM000678.1:g.5132574G>T	GRCh37
NC_000016.8:g.5072575G>T	NCBI36
NG_009202.1:g.15765G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3223G>T
ENST00000682020.1:c.493G>T	ENSP00000508075.1:p.Gly165Cys
ENST00000682206.1:c.*182G>T	ENSP00000508285.1:n.*182G>T
ENST00000682314.1:n.1135G>T
ENST00000682327.1:c.559G>T	ENSP00000507058.1:p.Gly187Cys
ENST00000682349.1:n.3229G>T
ENST00000682703.1:n.4055G>T
ENST00000682797.1:c.*179G>T	ENSP00000507582.1:n.*179G>T
ENST00000682985.1:c.598G>T	ENSP00000507598.1:p.Gly200Cys
ENST00000683433.1:c.346G>T	ENSP00000507463.1:p.Gly116Cys
ENST00000683685.1:n.1961G>T
ENST00000683710.1:c.*1054G>T	ENSP00000506785.1:n.*1054G>T
ENST00000683739.1:c.754G>T	ENSP00000507002.1:p.Gly252Cys
ENST00000683772.1:n.1131G>T
ENST00000684008.1:c.1025G>T	ENSP00000507962.1:n.1025G>T
ENST00000684190.1:c.1048G>T	ENSP00000507554.1:p.Gly350Cys
ENST00000684335.1:c.976G>T	ENSP00000508112.1:p.Gly326Cys
ENST00000262374.10:c.1087G>T MANE Select	ENSP00000262374.5:p.Gly363Cys
ENST00000650085.1:n.1911G>T
ENST00000262374.9:c.1087G>T	ENSP00000262374.4:p.Gly363Cys
ENST00000544428.1:c.754G>T	ENSP00000440019.1:p.Gly252Cys
ENST00000588623.5:c.754G>T	ENSP00000468118.1:p.Gly252Cys
ENST00000591822.5:c.*988G>T	ENSP00000467865.1:n.*988G>T
NM_019109.4:c.1087G>T	NP_061982.3:p.Gly363Cys
XM_011522565.1:c.754G>T	XP_011520867.1:p.Gly252Cys
NM_001330504.1:c.754G>T	NP_001317433.1:p.Gly252Cys
XM_017023457.2:c.1048G>T	XP_016878946.1:p.Gly350Cys
XM_017023458.1:c.754G>T	XP_016878947.1:p.Gly252Cys
XR_932882.3:n.1116G>T
NM_019109.5:c.1087G>T MANE Select	NP_061982.3:p.Gly363Cys
NM_001330504.2:c.754G>T	NP_001317433.1:p.Gly252Cys