Canonical Allele Identifier: CA16606032

Gene: ALG8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78106851C>A , CM000673.2:g.78106851C>A	GRCh38
NC_000011.9:g.77817897C>A , CM000673.1:g.77817897C>A	GRCh37
NC_000011.8:g.77495545C>A	NCBI36
NG_008926.1:g.37803G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024079.5:c.1134G>T MANE Select	NP_076984.2:p.Trp378Cys
ENST00000299626.10:c.1134G>T MANE Select	ENSP00000299626.5:p.Trp378Cys
NM_001007027.2:c.1134G>T	NP_001007028.1:p.Trp378Cys
NM_001007027.3:c.1134G>T	NP_001007028.1:p.Trp378Cys
NM_024079.4:c.1134G>T	NP_076984.2:p.Trp378Cys
ENST00000299626.9:c.1134G>T	ENSP00000299626.5:p.Trp378Cys
ENST00000376156.7:c.1134G>T	ENSP00000365326.3:p.Trp378Cys
ENST00000524925.1:n.432G>T
ENST00000524925.2:n.1212G>T
ENST00000525761.3:c.870G>T	ENSP00000431357.3:p.Trp290Cys
ENST00000525783.5:c.242+2591G>T
ENST00000525783.6:c.870G>T	ENSP00000434066.2:p.Trp290Cys
ENST00000525870.6:c.1038+2591G>T	ENSP00000435417.2:n.1038+2591G>T
ENST00000526737.5:c.*766G>T	ENSP00000436366.1:n.*766G>T
ENST00000526737.6:c.*665G>T	ENSP00000436366.2:n.*665G>T
ENST00000526849.5:c.147G>T	ENSP00000434388.1:p.Trp49Cys
ENST00000526849.6:c.1038G>T	ENSP00000434388.2:p.Trp346Cys
ENST00000527099.2:c.870G>T	ENSP00000436064.2:p.Trp290Cys
ENST00000529139.6:c.960G>T	ENSP00000432953.2:p.Trp320Cys
ENST00000530608.5:c.239G>T
ENST00000530608.6:c.933G>T	ENSP00000432381.2:p.Trp311Cys
ENST00000530910.6:c.870G>T	ENSP00000437033.2:p.Trp290Cys
ENST00000532306.5:c.494G>T
ENST00000532306.6:c.873G>T	ENSP00000435626.2:p.Trp291Cys
ENST00000532440.5:c.636G>T	ENSP00000433429.1:p.Trp212Cys
ENST00000532440.6:c.1182G>T	ENSP00000433429.2:p.Trp394Cys
ENST00000532552.2:n.323G>T
ENST00000615266.4:c.1134G>T	ENSP00000480742.1:p.Trp378Cys
ENST00000615266.5:c.1134G>T	ENSP00000480742.2:p.Trp378Cys
ENST00000679444.1:c.870G>T	ENSP00000506099.1:p.Trp290Cys
ENST00000679497.1:c.870G>T	ENSP00000505407.1:p.Trp290Cys
ENST00000679539.1:c.1134G>T	ENSP00000504910.1:p.Trp378Cys
ENST00000679559.1:c.1134G>T	ENSP00000505433.1:p.Trp378Cys
ENST00000679581.1:n.1836G>T
ENST00000679648.1:c.*665G>T	ENSP00000505726.1:n.*665G>T
ENST00000679685.1:c.*484G>T	ENSP00000505698.1:n.*484G>T
ENST00000679697.1:c.899-2398G>T	ENSP00000505696.1:n.899-2398G>T
ENST00000679874.1:c.*631G>T	ENSP00000506314.1:n.*631G>T
ENST00000679986.1:c.*665G>T	ENSP00000505614.1:n.*665G>T
ENST00000680063.1:c.*665G>T	ENSP00000504928.1:n.*665G>T
ENST00000680101.1:c.870G>T	ENSP00000504917.1:p.Trp290Cys
ENST00000680142.1:n.966G>T
ENST00000680223.1:c.1134G>T	ENSP00000505023.1:p.Trp378Cys
ENST00000680256.1:c.1137G>T	ENSP00000505074.1:p.Trp379Cys
ENST00000680329.1:c.870G>T	ENSP00000506215.1:p.Trp290Cys
ENST00000680398.1:c.1134G>T	ENSP00000506189.1:p.Trp378Cys
ENST00000680399.1:c.960G>T	ENSP00000505984.1:p.Trp320Cys
ENST00000680459.1:c.*757G>T	ENSP00000506617.1:n.*757G>T
ENST00000680467.1:c.*70G>T	ENSP00000505609.1:n.*70G>T
ENST00000680499.1:c.870G>T	ENSP00000506092.1:p.Trp290Cys
ENST00000680580.1:c.870G>T	ENSP00000506170.1:p.Trp290Cys
ENST00000680643.1:c.1134G>T	ENSP00000505207.1:p.Trp378Cys
ENST00000680761.1:c.870G>T	ENSP00000506421.1:p.Trp290Cys
ENST00000680797.1:c.*631G>T	ENSP00000506717.1:n.*631G>T
ENST00000680829.1:c.870G>T	ENSP00000506408.1:p.Trp290Cys
ENST00000680866.1:c.*35G>T	ENSP00000505649.1:n.*35G>T
ENST00000680996.1:c.*35G>T	ENSP00000505468.1:n.*35G>T
ENST00000681221.1:c.870G>T	ENSP00000505136.1:p.Trp290Cys
ENST00000681225.1:c.870G>T	ENSP00000505016.1:p.Trp290Cys
ENST00000681351.1:c.*35G>T	ENSP00000506652.1:n.*35G>T
ENST00000681384.1:c.*70G>T	ENSP00000506249.1:n.*70G>T
ENST00000681417.1:c.870G>T	ENSP00000505965.1:p.Trp290Cys
ENST00000681489.1:c.870G>T	ENSP00000505200.1:p.Trp290Cys
ENST00000681575.1:c.870G>T	ENSP00000505743.1:p.Trp290Cys
ENST00000681699.1:c.963G>T	ENSP00000504969.1:p.Trp321Cys
ENST00000681723.1:c.*35G>T	ENSP00000506059.1:n.*35G>T
ENST00000681765.1:c.696G>T	ENSP00000505811.1:p.Trp232Cys
ENST00000681853.1:n.1828G>T
ENST00000681957.1:c.*35G>T	ENSP00000506056.1:n.*35G>T
XM_005274247.2:c.1107G>T	XP_005274304.1:p.Trp369Cys
XM_005274247.3:c.1107G>T	XP_005274304.1:p.Trp369Cys
XM_011545251.1:c.960G>T	XP_011543553.1:p.Trp320Cys
XM_011545252.1:c.870G>T	XP_011543554.1:p.Trp290Cys
XM_011545252.2:c.870G>T	XP_011543554.1:p.Trp290Cys
XM_017018274.1:c.1107G>T	XP_016873763.1:p.Trp369Cys
XR_001747956.1:n.1922G>T
XR_428923.2:n.1172G>T
XR_428923.4:n.1155G>T
XR_950044.1:n.1111-2398G>T
XR_950044.3:n.1094-2398G>T
XR_950045.1:n.1111-2398G>T
XR_950045.3:n.1094-2398G>T