Canonical Allele Identifier: CA394674760

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5083749C>T , CM000678.2:g.5083749C>T	GRCh38
NC_000016.9:g.5133750C>T , CM000678.1:g.5133750C>T	GRCh37
NC_000016.8:g.5073751C>T	NCBI36
NG_009202.1:g.16941C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1255C>T MANE Select	NP_061982.3:p.Gln419Ter
ENST00000262374.10:c.1255C>T MANE Select	ENSP00000262374.5:p.Gln419Ter
NM_001330504.1:c.922C>T	NP_001317433.1:p.Gln308Ter
NM_001330504.2:c.922C>T	NP_001317433.1:p.Gln308Ter
NM_019109.4:c.1255C>T	NP_061982.3:p.Gln419Ter
ENST00000262374.9:c.1255C>T	ENSP00000262374.4:p.Gln419Ter
ENST00000544428.1:c.922C>T	ENSP00000440019.1:p.Gln308Ter
ENST00000588623.5:c.922C>T	ENSP00000468118.1:p.Gln308Ter
ENST00000591822.5:c.*1156C>T	ENSP00000467865.1:n.*1156C>T
ENST00000592793.6:n.3391C>T
ENST00000650085.1:n.2079C>T
ENST00000682020.1:c.661C>T	ENSP00000508075.1:p.Gln221Ter
ENST00000682206.1:c.*350C>T	ENSP00000508285.1:n.*350C>T
ENST00000682314.1:n.2311C>T
ENST00000682327.1:c.727C>T	ENSP00000507058.1:p.Gln243Ter
ENST00000682349.1:n.3397C>T
ENST00000682703.1:n.5231C>T
ENST00000682797.1:c.*347C>T	ENSP00000507582.1:n.*347C>T
ENST00000682985.1:c.766C>T	ENSP00000507598.1:p.Gln256Ter
ENST00000683433.1:c.514C>T	ENSP00000507463.1:p.Gln172Ter
ENST00000683685.1:n.3137C>T
ENST00000683710.1:c.*1222C>T	ENSP00000506785.1:n.*1222C>T
ENST00000683739.1:c.922C>T	ENSP00000507002.1:p.Gln308Ter
ENST00000683772.1:n.2307C>T
ENST00000684008.1:c.1193C>T	ENSP00000507962.1:n.1193C>T
ENST00000684190.1:c.1216C>T	ENSP00000507554.1:p.Gln406Ter
ENST00000684335.1:c.1144C>T	ENSP00000508112.1:p.Gln382Ter
XM_011522565.1:c.922C>T	XP_011520867.1:p.Gln308Ter
XM_017023457.2:c.1216C>T	XP_016878946.1:p.Gln406Ter
XM_017023458.1:c.922C>T	XP_016878947.1:p.Gln308Ter
XR_932882.3:n.1284C>T