Canonical Allele Identifier: CA382116231

Gene: ALG8

Linked Data

• MyVariant Identifiers: chr11:g.77823778G>C (hg19) ; chr11:g.78112732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78112732G>C , CM000673.2:g.78112732G>C	GRCh38
NC_000011.9:g.77823778G>C , CM000673.1:g.77823778G>C	GRCh37
NC_000011.8:g.77501426G>C	NCBI36
NG_008926.1:g.31922C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299626.10:c.816C>G MANE Select	ENSP00000299626.5:p.Phe272Leu
ENST00000524925.2:n.928C>G
ENST00000525755.6:c.*448C>G	ENSP00000435467.2:n.*448C>G
ENST00000525761.3:c.552C>G	ENSP00000431357.3:p.Phe184Leu
ENST00000525783.6:c.552C>G	ENSP00000434066.2:p.Phe184Leu
ENST00000525870.6:c.816C>G	ENSP00000435417.2:p.Phe272Leu
ENST00000526737.6:c.*347C>G	ENSP00000436366.2:n.*347C>G
ENST00000526849.6:c.720C>G	ENSP00000434388.2:p.Phe240Leu
ENST00000527099.2:c.552C>G	ENSP00000436064.2:p.Phe184Leu
ENST00000529139.6:c.816C>G	ENSP00000432953.2:p.Phe272Leu
ENST00000530454.6:c.816C>G	ENSP00000434660.2:p.Phe272Leu
ENST00000530608.6:c.615C>G	ENSP00000432381.2:p.Phe205Leu
ENST00000530910.6:c.552C>G	ENSP00000437033.2:p.Phe184Leu
ENST00000532306.6:c.777+1154C>G	ENSP00000435626.2:n.777+1154C>G
ENST00000532440.6:c.816C>G	ENSP00000433429.2:p.Phe272Leu
ENST00000615266.5:c.816C>G	ENSP00000480742.2:p.Phe272Leu
ENST00000679444.1:c.552C>G	ENSP00000506099.1:p.Phe184Leu
ENST00000679497.1:c.552C>G	ENSP00000505407.1:p.Phe184Leu
ENST00000679539.1:c.816C>G	ENSP00000504910.1:p.Phe272Leu
ENST00000679559.1:c.816C>G	ENSP00000505433.1:p.Phe272Leu
ENST00000679581.1:n.1552C>G
ENST00000679648.1:c.*347C>G	ENSP00000505726.1:n.*347C>G
ENST00000679685.1:c.*200C>G	ENSP00000505698.1:n.*200C>G
ENST00000679697.1:c.816C>G	ENSP00000505696.1:p.Phe272Leu
ENST00000679874.1:c.*347C>G	ENSP00000506314.1:n.*347C>G
ENST00000679986.1:c.*347C>G	ENSP00000505614.1:n.*347C>G
ENST00000680063.1:c.*347C>G	ENSP00000504928.1:n.*347C>G
ENST00000680101.1:c.552C>G	ENSP00000504917.1:p.Phe184Leu
ENST00000680142.1:n.905-5820C>G
ENST00000680223.1:c.816C>G	ENSP00000505023.1:p.Phe272Leu
ENST00000680256.1:c.819C>G	ENSP00000505074.1:p.Phe273Leu
ENST00000680329.1:c.552C>G	ENSP00000506215.1:p.Phe184Leu
ENST00000680398.1:c.816C>G	ENSP00000506189.1:p.Phe272Leu
ENST00000680399.1:c.816C>G	ENSP00000505984.1:p.Phe272Leu
ENST00000680459.1:c.*439C>G	ENSP00000506617.1:n.*439C>G
ENST00000680467.1:c.816C>G	ENSP00000505609.1:p.Phe272Leu
ENST00000680499.1:c.552C>G	ENSP00000506092.1:p.Phe184Leu
ENST00000680580.1:c.552C>G	ENSP00000506170.1:p.Phe184Leu
ENST00000680643.1:c.816C>G	ENSP00000505207.1:p.Phe272Leu
ENST00000680761.1:c.552C>G	ENSP00000506421.1:p.Phe184Leu
ENST00000680797.1:c.*347C>G	ENSP00000506717.1:n.*347C>G
ENST00000680829.1:c.552C>G	ENSP00000506408.1:p.Phe184Leu
ENST00000680866.1:c.816C>G	ENSP00000505649.1:p.Phe272Leu
ENST00000680996.1:c.552C>G	ENSP00000505468.1:p.Phe184Leu
ENST00000681221.1:c.552C>G	ENSP00000505136.1:p.Phe184Leu
ENST00000681225.1:c.552C>G	ENSP00000505016.1:p.Phe184Leu
ENST00000681351.1:c.552C>G	ENSP00000506652.1:p.Phe184Leu
ENST00000681384.1:c.552C>G	ENSP00000506249.1:p.Phe184Leu
ENST00000681417.1:c.552C>G	ENSP00000505965.1:p.Phe184Leu
ENST00000681489.1:c.552C>G	ENSP00000505200.1:p.Phe184Leu
ENST00000681575.1:c.552C>G	ENSP00000505743.1:p.Phe184Leu
ENST00000681699.1:c.645C>G	ENSP00000504969.1:p.Phe215Leu
ENST00000681723.1:c.552C>G	ENSP00000506059.1:p.Phe184Leu
ENST00000681765.1:c.552C>G	ENSP00000505811.1:p.Phe184Leu
ENST00000681853.1:n.1510C>G
ENST00000681957.1:c.816C>G	ENSP00000506056.1:p.Phe272Leu
ENST00000299626.9:c.816C>G	ENSP00000299626.5:p.Phe272Leu
ENST00000376156.7:c.816C>G	ENSP00000365326.3:p.Phe272Leu
ENST00000524925.1:n.254C>G
ENST00000525755.5:c.663C>G	ENSP00000435467.1:p.Phe221Leu
ENST00000525783.5:c.20C>G
ENST00000526737.5:c.*448C>G	ENSP00000436366.1:n.*448C>G
ENST00000529139.5:c.350C>G
ENST00000530454.5:c.819C>G	ENSP00000434660.1:p.Phe273Leu
ENST00000530608.5:c.95C>G
ENST00000532306.5:c.398+1154C>G
ENST00000532440.5:c.270C>G	ENSP00000433429.1:p.Phe90Leu
ENST00000532552.2:n.122-3151C>G
ENST00000615266.4:c.816C>G	ENSP00000480742.1:p.Phe272Leu
NM_001007027.2:c.816C>G	NP_001007028.1:p.Phe272Leu
NM_024079.4:c.816C>G	NP_076984.2:p.Phe272Leu
XM_005274247.2:c.789C>G	XP_005274304.1:p.Phe263Leu
XM_011545251.1:c.816C>G	XP_011543553.1:p.Phe272Leu
XM_011545252.1:c.552C>G	XP_011543554.1:p.Phe184Leu
XR_428923.2:n.888C>G
XR_950044.1:n.888C>G
XR_950045.1:n.888C>G
XM_005274247.3:c.789C>G	XP_005274304.1:p.Phe263Leu
XM_011545252.2:c.552C>G	XP_011543554.1:p.Phe184Leu
XM_017018274.1:c.789C>G	XP_016873763.1:p.Phe263Leu
XR_001747956.1:n.1638C>G
XR_428923.4:n.871C>G
XR_950044.3:n.871C>G
XR_950045.3:n.871C>G
NM_024079.5:c.816C>G MANE Select	NP_076984.2:p.Phe272Leu
NM_001007027.3:c.816C>G	NP_001007028.1:p.Phe272Leu