Canonical Allele Identifier: CA2732853
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs113388242

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327376C>T , CM000665.2:g.184327376C>T GRCh38
NC_000003.11:g.184045164C>T , CM000665.1:g.184045164C>T GRCh37
NC_000003.10:g.185527858C>T NCBI36
NG_016850.1:g.17809C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000346169.7:c.3589C>T (EIF4G1) MANE Select ENSP00000316879.5:p.Arg1197Trp
ENST00000435046.7:c.3523C>T (EIF4G1) ENSP00000404754.3:p.Arg1175Trp
ENST00000676453.1:c.2936C>T (EIF4G1) ENSP00000501695.1:n.2936C>T
ENST00000319274.10:c.2992C>T (EIF4G1) ENSP00000323737.7:p.Arg998Trp
ENST00000342981.8:c.3592C>T (EIF4G1) ENSP00000343450.4:p.Arg1198Trp
ENST00000346169.6:c.3589C>T (EIF4G1) ENSP00000316879.4:p.Arg1197Trp
ENST00000350481.9:c.3097C>T (EIF4G1) ENSP00000317600.8:p.Arg1033Trp
ENST00000352767.7:c.3610C>T (EIF4G1) ENSP00000338020.4:p.Arg1204Trp
ENST00000382330.7:c.3610C>T (EIF4G1) ENSP00000371767.3:p.Arg1204Trp
ENST00000392537.6:c.3328C>T (EIF4G1) ENSP00000376320.2:p.Arg1110Trp
ENST00000411531.5:c.3472C>T (EIF4G1) ENSP00000395974.1:p.Arg1158Trp
ENST00000414031.5:c.3469C>T (EIF4G1) ENSP00000391935.1:p.Arg1157Trp
ENST00000424196.5:c.3610C>T (EIF4G1) ENSP00000416255.1:p.Arg1204Trp
ENST00000427845.5:c.3331C>T (EIF4G1) ENSP00000407682.1:p.Arg1111Trp
ENST00000434061.6:c.3004C>T (EIF4G1) ENSP00000411826.2:p.Arg1002Trp
ENST00000435046.6:c.3001C>T (EIF4G1) ENSP00000404754.2:p.Arg1001Trp
ENST00000441154.5:c.3100C>T (EIF4G1) ENSP00000399858.1:p.Arg1034Trp
ENST00000442406.5:c.*3028C>T (EIF4G1) ENSP00000400351.1:n.*3028C>T
ENST00000444495.1:c.2106+182669C>T (EIF2B5) ENSP00000409142.1:n.2106+182669C>T
ENST00000482303.1:n.91C>T (EIF4G1)
NM_001194946.1:c.3610C>T (EIF4G1) NP_001181875.1:p.Arg1204Trp
NM_001194947.1:c.3610C>T (EIF4G1) NP_001181876.1:p.Arg1204Trp
NM_001291157.1:c.3469C>T (EIF4G1) NP_001278086.1:p.Arg1157Trp
NM_004953.4:c.3004C>T (EIF4G1) NP_004944.3:p.Arg1002Trp
NM_182917.4:c.3592C>T (EIF4G1) NP_886553.3:p.Arg1198Trp
NM_198241.2:c.3589C>T (EIF4G1) NP_937884.1:p.Arg1197Trp
NM_198242.2:c.3097C>T (EIF4G1) NP_937885.1:p.Arg1033Trp
NM_198244.2:c.3328C>T (EIF4G1) NP_937887.1:p.Arg1110Trp
NM_001194946.2:c.3610C>T (EIF4G1) NP_001181875.2:p.Arg1204Trp
NM_001291157.2:c.3469C>T (EIF4G1) NP_001278086.2:p.Arg1157Trp
NM_004953.5:c.3004C>T (EIF4G1) NP_004944.3:p.Arg1002Trp
NM_198241.3:c.3589C>T (EIF4G1) MANE Select NP_937884.2:p.Arg1197Trp
NM_198242.3:c.3097C>T (EIF4G1) NP_937885.1:p.Arg1033Trp
NM_198244.3:c.3328C>T (EIF4G1) NP_937887.2:p.Arg1110Trp
NM_001194947.2:c.3610C>T (EIF4G1) NP_001181876.2:p.Arg1204Trp