Canonical Allele Identifier: CA493335442

Gene: ALG1

Linked Data

• dbSNP Id: rs2142721978
• MyVariant Identifiers: chr16:g.5130999C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080998C>T , CM000678.2:g.5080998C>T	GRCh38
NC_000016.9:g.5130999C>T , CM000678.1:g.5130999C>T	GRCh37
NC_000016.8:g.5071000C>T	NCBI36
NG_009202.1:g.14190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3150C>T
ENST00000682020.1:c.420C>T	ENSP00000508075.1:p.Phe140=
ENST00000682206.1:c.*106C>T	ENSP00000508285.1:n.*106C>T
ENST00000682314.1:n.1062C>T
ENST00000682327.1:c.486C>T	ENSP00000507058.1:p.Phe162=
ENST00000682349.1:n.3156C>T
ENST00000682703.1:n.3982C>T
ENST00000682797.1:c.*106C>T	ENSP00000507582.1:n.*106C>T
ENST00000682985.1:c.525C>T	ENSP00000507598.1:p.Phe175=
ENST00000683433.1:c.270C>T	ENSP00000507463.1:p.Phe90=
ENST00000683685.1:n.1888C>T
ENST00000683710.1:c.*981C>T	ENSP00000506785.1:n.*981C>T
ENST00000683739.1:c.681C>T	ENSP00000507002.1:p.Phe227=
ENST00000683772.1:n.1058C>T
ENST00000684008.1:c.952C>T	ENSP00000507962.1:n.952C>T
ENST00000684190.1:c.975C>T	ENSP00000507554.1:p.Phe325=
ENST00000684335.1:c.961+1191C>T	ENSP00000508112.1:n.961+1191C>T
ENST00000262374.10:c.1014C>T MANE Select	ENSP00000262374.5:p.Phe338=
ENST00000650085.1:n.1838C>T
ENST00000262374.9:c.1014C>T	ENSP00000262374.4:p.Phe338=
ENST00000544428.1:c.681C>T	ENSP00000440019.1:p.Phe227=
ENST00000588623.5:c.681C>T	ENSP00000468118.1:p.Phe227=
ENST00000591822.5:c.*915C>T	ENSP00000467865.1:n.*915C>T
NM_019109.4:c.1014C>T	NP_061982.3:p.Phe338=
XM_011522565.1:c.681C>T	XP_011520867.1:p.Phe227=
NM_001330504.1:c.681C>T	NP_001317433.1:p.Phe227=
XM_017023457.2:c.975C>T	XP_016878946.1:p.Phe325=
XM_017023458.1:c.681C>T	XP_016878947.1:p.Phe227=
XR_932882.3:n.1043C>T
NM_019109.5:c.1014C>T MANE Select	NP_061982.3:p.Phe338=
NM_001330504.2:c.681C>T	NP_001317433.1:p.Phe227=