Canonical Allele Identifier: CA7889974

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078016C>T , CM000678.2:g.5078016C>T	GRCh38
NC_000016.9:g.5128017C>T , CM000678.1:g.5128017C>T	GRCh37
NC_000016.8:g.5068018C>T	NCBI36
NG_009202.1:g.11208C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.739C>T MANE Select	NP_061982.3:p.Arg247Cys
ENST00000262374.10:c.739C>T MANE Select	ENSP00000262374.5:p.Arg247Cys
NM_001330504.1:c.406C>T	NP_001317433.1:p.Arg136Cys
NM_001330504.2:c.406C>T	NP_001317433.1:p.Arg136Cys
NM_019109.4:c.739C>T	NP_061982.3:p.Arg247Cys
ENST00000262374.9:c.739C>T	ENSP00000262374.4:p.Arg247Cys
ENST00000544428.1:c.406C>T	ENSP00000440019.1:p.Arg136Cys
ENST00000588623.5:c.406C>T	ENSP00000468118.1:p.Arg136Cys
ENST00000591783.5:c.406C>T	ENSP00000464700.1:p.Arg136Cys
ENST00000591822.5:c.*640C>T	ENSP00000467865.1:n.*640C>T
ENST00000592793.6:n.2877C>T
ENST00000650085.1:n.1559C>T
ENST00000682020.1:c.145C>T	ENSP00000508075.1:p.Arg49Cys
ENST00000682206.1:c.739C>T	ENSP00000508285.1:p.Arg247Cys
ENST00000682314.1:n.783C>T
ENST00000682327.1:c.250C>T	ENSP00000507058.1:p.Arg84Cys
ENST00000682349.1:n.2877C>T
ENST00000682703.1:n.2877C>T
ENST00000682797.1:c.739C>T	ENSP00000507582.1:p.Arg247Cys
ENST00000682985.1:c.250C>T	ENSP00000507598.1:p.Arg84Cys
ENST00000683433.1:c.35+482C>T	ENSP00000507463.1:n.35+482C>T
ENST00000683685.1:n.783C>T
ENST00000683710.1:c.*702C>T	ENSP00000506785.1:n.*702C>T
ENST00000683739.1:c.406C>T	ENSP00000507002.1:p.Arg136Cys
ENST00000683772.1:n.783C>T
ENST00000684008.1:c.673C>T	ENSP00000507962.1:p.Arg225Cys
ENST00000684190.1:c.739C>T	ENSP00000507554.1:p.Arg247Cys
ENST00000684335.1:c.739C>T	ENSP00000508112.1:p.Arg247Cys
XM_011522565.1:c.406C>T	XP_011520867.1:p.Arg136Cys
XM_017023457.2:c.739C>T	XP_016878946.1:p.Arg247Cys
XM_017023458.1:c.406C>T	XP_016878947.1:p.Arg136Cys
XR_932882.1:n.780C>T
XR_932882.3:n.764C>T