Canonical Allele Identifier: CA7889727

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5072954C>T , CM000678.2:g.5072954C>T	GRCh38
NC_000016.9:g.5122955C>T , CM000678.1:g.5122955C>T	GRCh37
NC_000016.8:g.5062956C>T	NCBI36
NG_009202.1:g.6146C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.212C>T MANE Select	NP_061982.3:p.Ser71Phe
ENST00000262374.10:c.212C>T MANE Select	ENSP00000262374.5:p.Ser71Phe
NM_001330504.1:c.-122C>T	NP_001317433.1:n.-122C>T
NM_001330504.2:c.-122C>T	NP_001317433.1:n.-122C>T
NM_019109.4:c.212C>T	NP_061982.3:p.Ser71Phe
ENST00000262374.9:c.212C>T	ENSP00000262374.4:p.Ser71Phe
ENST00000544428.1:c.-122C>T	ENSP00000440019.1:n.-122C>T
ENST00000586840.1:c.212C>T	ENSP00000467538.1:p.Ser71Phe
ENST00000588623.5:c.-122C>T	ENSP00000468118.1:n.-122C>T
ENST00000591783.5:c.-122C>T	ENSP00000464700.1:n.-122C>T
ENST00000591822.5:c.*113C>T	ENSP00000467865.1:n.*113C>T
ENST00000592793.5:n.219C>T
ENST00000592793.6:n.219C>T
ENST00000650085.1:n.1016C>T
ENST00000682020.1:c.-55-4491C>T	ENSP00000508075.1:n.-55-4491C>T
ENST00000682206.1:c.212C>T	ENSP00000508285.1:p.Ser71Phe
ENST00000682314.1:n.256C>T
ENST00000682327.1:c.-99-2434C>T	ENSP00000507058.1:n.-99-2434C>T
ENST00000682349.1:n.219C>T
ENST00000682703.1:n.219C>T
ENST00000682797.1:c.212C>T	ENSP00000507582.1:p.Ser71Phe
ENST00000682985.1:c.-99-2434C>T	ENSP00000507598.1:n.-99-2434C>T
ENST00000683433.1:c.-55-4491C>T	ENSP00000507463.1:n.-55-4491C>T
ENST00000683685.1:n.256C>T
ENST00000683710.1:c.212C>T	ENSP00000506785.1:p.Ser71Phe
ENST00000683739.1:c.-122C>T	ENSP00000507002.1:n.-122C>T
ENST00000683772.1:n.256C>T
ENST00000684008.1:c.146C>T	ENSP00000507962.1:p.Ser49Phe
ENST00000684190.1:c.212C>T	ENSP00000507554.1:p.Ser71Phe
ENST00000684335.1:c.212C>T	ENSP00000508112.1:p.Ser71Phe
XM_011522565.1:c.-122C>T	XP_011520867.1:n.-122C>T
XM_017023457.2:c.212C>T	XP_016878946.1:p.Ser71Phe
XM_017023458.1:c.-122C>T	XP_016878947.1:n.-122C>T
XR_932882.1:n.253C>T
XR_932882.3:n.237C>T