Canonical Allele Identifier: CA224903696

Gene: ALG8

Linked Data

• ClinVar Variation Id: 664953
• ClinVar RCV Id: RCV000823145 ; RCV002487852
• dbSNP Id: rs376704970
• MyVariant Identifiers: chr11:g.77815082G>C (hg19) ; chr11:g.78104036G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78104036G>C , CM000673.2:g.78104036G>C	GRCh38
NC_000011.9:g.77815082G>C , CM000673.1:g.77815082G>C	GRCh37
NC_000011.8:g.77492730G>C	NCBI36
NG_008926.1:g.40618C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299626.10:c.1293C>G MANE Select	ENSP00000299626.5:p.Ile431Met
ENST00000524925.2:n.1371C>G
ENST00000525761.3:c.1029C>G	ENSP00000431357.3:p.Ile343Met
ENST00000525783.6:c.1029C>G	ENSP00000434066.2:p.Ile343Met
ENST00000525870.6:c.1039-2841C>G	ENSP00000435417.2:n.1039-2841C>G
ENST00000526737.6:c.*824C>G	ENSP00000436366.2:n.*824C>G
ENST00000526849.6:c.1197C>G	ENSP00000434388.2:p.Ile399Met
ENST00000527099.2:c.1029C>G	ENSP00000436064.2:p.Ile343Met
ENST00000529139.6:c.1119C>G	ENSP00000432953.2:p.Ile373Met
ENST00000530608.6:c.1092C>G	ENSP00000432381.2:p.Ile364Met
ENST00000530910.6:c.1029C>G	ENSP00000437033.2:p.Ile343Met
ENST00000532306.6:c.1032C>G	ENSP00000435626.2:p.Ile344Met
ENST00000532440.6:c.1341C>G	ENSP00000433429.2:p.Ile447Met
ENST00000615266.5:c.1276+320C>G	ENSP00000480742.2:n.1276+320C>G
ENST00000679444.1:c.1029C>G	ENSP00000506099.1:p.Ile343Met
ENST00000679497.1:c.1029C>G	ENSP00000505407.1:p.Ile343Met
ENST00000679539.1:c.*4C>G	ENSP00000504910.1:n.*4C>G
ENST00000679559.1:c.1293C>G	ENSP00000505433.1:p.Ile431Met
ENST00000679581.1:n.1995C>G
ENST00000679648.1:c.*824C>G	ENSP00000505726.1:n.*824C>G
ENST00000679685.1:c.*643C>G	ENSP00000505698.1:n.*643C>G
ENST00000679697.1:c.*71C>G	ENSP00000505696.1:n.*71C>G
ENST00000679874.1:c.*790C>G	ENSP00000506314.1:n.*790C>G
ENST00000679986.1:c.*824C>G	ENSP00000505614.1:n.*824C>G
ENST00000680063.1:c.*824C>G	ENSP00000504928.1:n.*824C>G
ENST00000680101.1:c.1029C>G	ENSP00000504917.1:p.Ile343Met
ENST00000680142.1:n.1125C>G
ENST00000680223.1:c.*176C>G	ENSP00000505023.1:n.*176C>G
ENST00000680256.1:c.1296C>G	ENSP00000505074.1:p.Ile432Met
ENST00000680329.1:c.1029C>G	ENSP00000506215.1:p.Ile343Met
ENST00000680398.1:c.1293C>G	ENSP00000506189.1:p.Ile431Met
ENST00000680399.1:c.1119C>G	ENSP00000505984.1:p.Ile373Met
ENST00000680459.1:c.*916C>G	ENSP00000506617.1:n.*916C>G
ENST00000680467.1:c.*229C>G	ENSP00000505609.1:n.*229C>G
ENST00000680499.1:c.1029C>G	ENSP00000506092.1:p.Ile343Met
ENST00000680580.1:c.1029C>G	ENSP00000506170.1:p.Ile343Met
ENST00000680643.1:c.1293C>G	ENSP00000505207.1:p.Ile431Met
ENST00000680761.1:c.1029C>G	ENSP00000506421.1:p.Ile343Met
ENST00000680797.1:c.*790C>G	ENSP00000506717.1:n.*790C>G
ENST00000680829.1:c.1029C>G	ENSP00000506408.1:p.Ile343Met
ENST00000680866.1:c.*194C>G	ENSP00000505649.1:n.*194C>G
ENST00000680996.1:c.*194C>G	ENSP00000505468.1:n.*194C>G
ENST00000681221.1:c.1029C>G	ENSP00000505136.1:p.Ile343Met
ENST00000681225.1:c.1029C>G	ENSP00000505016.1:p.Ile343Met
ENST00000681351.1:c.*194C>G	ENSP00000506652.1:n.*194C>G
ENST00000681384.1:c.*229C>G	ENSP00000506249.1:n.*229C>G
ENST00000681417.1:c.1029C>G	ENSP00000505965.1:p.Ile343Met
ENST00000681489.1:c.1029C>G	ENSP00000505200.1:p.Ile343Met
ENST00000681575.1:c.1029C>G	ENSP00000505743.1:p.Ile343Met
ENST00000681699.1:c.1122C>G	ENSP00000504969.1:p.Ile374Met
ENST00000681723.1:c.*194C>G	ENSP00000506059.1:n.*194C>G
ENST00000681765.1:c.855C>G	ENSP00000505811.1:p.Ile285Met
ENST00000681853.1:n.1987C>G
ENST00000681957.1:c.*194C>G	ENSP00000506056.1:n.*194C>G
ENST00000299626.9:c.1293C>G	ENSP00000299626.5:p.Ile431Met
ENST00000376156.7:c.1293C>G	ENSP00000365326.3:p.Ile431Met
ENST00000525783.5:c.243-2841C>G
ENST00000526737.5:c.*925C>G	ENSP00000436366.1:n.*925C>G
ENST00000526849.5:c.306C>G	ENSP00000434388.1:p.Ile102Met
ENST00000530608.5:c.398C>G
ENST00000531213.5:n.211C>G
ENST00000532306.5:c.653C>G
ENST00000532552.2:n.482C>G
ENST00000615266.4:c.1293C>G	ENSP00000480742.1:p.Ile431Met
NM_001007027.2:c.1293C>G	NP_001007028.1:p.Ile431Met
NM_024079.4:c.1293C>G	NP_076984.2:p.Ile431Met
XM_005274247.2:c.1266C>G	XP_005274304.1:p.Ile422Met
XM_011545251.1:c.1119C>G	XP_011543553.1:p.Ile373Met
XM_011545252.1:c.1029C>G	XP_011543554.1:p.Ile343Met
XR_428923.2:n.1331C>G
XR_950044.1:n.1225C>G
XR_950045.1:n.1225C>G
XM_005274247.3:c.1266C>G	XP_005274304.1:p.Ile422Met
XM_011545252.2:c.1029C>G	XP_011543554.1:p.Ile343Met
XM_017018274.1:c.1266C>G	XP_016873763.1:p.Ile422Met
XR_001747956.1:n.2081C>G
XR_428923.4:n.1314C>G
XR_950044.3:n.1208C>G
XR_950045.3:n.1208C>G
NM_024079.5:c.1293C>G MANE Select	NP_076984.2:p.Ile431Met
NM_001007027.3:c.1293C>G	NP_001007028.1:p.Ile431Met