Canonical Allele Identifier: CA394673969

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082666T>C , CM000678.2:g.5082666T>C	GRCh38
NC_000016.9:g.5132667T>C , CM000678.1:g.5132667T>C	GRCh37
NC_000016.8:g.5072668T>C	NCBI36
NG_009202.1:g.15858T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1180T>C MANE Select	NP_061982.3:p.Phe394Leu
ENST00000262374.10:c.1180T>C MANE Select	ENSP00000262374.5:p.Phe394Leu
NM_001330504.1:c.847T>C	NP_001317433.1:p.Phe283Leu
NM_001330504.2:c.847T>C	NP_001317433.1:p.Phe283Leu
NM_019109.4:c.1180T>C	NP_061982.3:p.Phe394Leu
ENST00000262374.9:c.1180T>C	ENSP00000262374.4:p.Phe394Leu
ENST00000544428.1:c.847T>C	ENSP00000440019.1:p.Phe283Leu
ENST00000588623.5:c.847T>C	ENSP00000468118.1:p.Phe283Leu
ENST00000591822.5:c.*1081T>C	ENSP00000467865.1:n.*1081T>C
ENST00000592793.6:n.3316T>C
ENST00000650085.1:n.2004T>C
ENST00000682020.1:c.586T>C	ENSP00000508075.1:p.Phe196Leu
ENST00000682206.1:c.*275T>C	ENSP00000508285.1:n.*275T>C
ENST00000682314.1:n.1228T>C
ENST00000682327.1:c.652T>C	ENSP00000507058.1:p.Phe218Leu
ENST00000682349.1:n.3322T>C
ENST00000682703.1:n.4148T>C
ENST00000682797.1:c.*272T>C	ENSP00000507582.1:n.*272T>C
ENST00000682985.1:c.691T>C	ENSP00000507598.1:p.Phe231Leu
ENST00000683433.1:c.439T>C	ENSP00000507463.1:p.Phe147Leu
ENST00000683685.1:n.2054T>C
ENST00000683710.1:c.*1147T>C	ENSP00000506785.1:n.*1147T>C
ENST00000683739.1:c.847T>C	ENSP00000507002.1:p.Phe283Leu
ENST00000683772.1:n.1224T>C
ENST00000684008.1:c.1118T>C	ENSP00000507962.1:n.1118T>C
ENST00000684190.1:c.1141T>C	ENSP00000507554.1:p.Phe381Leu
ENST00000684335.1:c.1069T>C	ENSP00000508112.1:p.Phe357Leu
XM_011522565.1:c.847T>C	XP_011520867.1:p.Phe283Leu
XM_017023457.2:c.1141T>C	XP_016878946.1:p.Phe381Leu
XM_017023458.1:c.847T>C	XP_016878947.1:p.Phe283Leu
XR_932882.3:n.1209T>C