Canonical Allele Identifier: CA394672997

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5131018A>T (hg19) ; chr16:g.5081017A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081017A>T , CM000678.2:g.5081017A>T	GRCh38
NC_000016.9:g.5131018A>T , CM000678.1:g.5131018A>T	GRCh37
NC_000016.8:g.5071019A>T	NCBI36
NG_009202.1:g.14209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3169A>T
ENST00000682020.1:c.439A>T	ENSP00000508075.1:p.Thr147Ser
ENST00000682206.1:c.*125A>T	ENSP00000508285.1:n.*125A>T
ENST00000682314.1:n.1081A>T
ENST00000682327.1:c.505A>T	ENSP00000507058.1:p.Thr169Ser
ENST00000682349.1:n.3175A>T
ENST00000682703.1:n.4001A>T
ENST00000682797.1:c.*125A>T	ENSP00000507582.1:n.*125A>T
ENST00000682985.1:c.544A>T	ENSP00000507598.1:p.Thr182Ser
ENST00000683433.1:c.289A>T	ENSP00000507463.1:p.Thr97Ser
ENST00000683685.1:n.1907A>T
ENST00000683710.1:c.*1000A>T	ENSP00000506785.1:n.*1000A>T
ENST00000683739.1:c.700A>T	ENSP00000507002.1:p.Thr234Ser
ENST00000683772.1:n.1077A>T
ENST00000684008.1:c.971A>T	ENSP00000507962.1:n.971A>T
ENST00000684190.1:c.994A>T	ENSP00000507554.1:p.Thr332Ser
ENST00000684335.1:c.961+1210A>T	ENSP00000508112.1:n.961+1210A>T
ENST00000262374.10:c.1033A>T MANE Select	ENSP00000262374.5:p.Thr345Ser
ENST00000650085.1:n.1857A>T
ENST00000262374.9:c.1033A>T	ENSP00000262374.4:p.Thr345Ser
ENST00000544428.1:c.700A>T	ENSP00000440019.1:p.Thr234Ser
ENST00000588623.5:c.700A>T	ENSP00000468118.1:p.Thr234Ser
ENST00000591822.5:c.*934A>T	ENSP00000467865.1:n.*934A>T
NM_019109.4:c.1033A>T	NP_061982.3:p.Thr345Ser
XM_011522565.1:c.700A>T	XP_011520867.1:p.Thr234Ser
NM_001330504.1:c.700A>T	NP_001317433.1:p.Thr234Ser
XM_017023457.2:c.994A>T	XP_016878946.1:p.Thr332Ser
XM_017023458.1:c.700A>T	XP_016878947.1:p.Thr234Ser
XR_932882.3:n.1062A>T
NM_019109.5:c.1033A>T MANE Select	NP_061982.3:p.Thr345Ser
NM_001330504.2:c.700A>T	NP_001317433.1:p.Thr234Ser