Revel Score:
ENST00000346169 (MANE Select)
0.055
ENST00000414031
0.055
ENST00000392537
0.055
ENST00000450424
0.055
ENST00000421110
0.055
ENST00000382330
0.055
ENST00000426123
0.055
ENST00000352767
0.055
ENST00000427141
0.055
ENST00000427845
0.055
ENST00000342981
0.055
ENST00000319274
0.055
ENST00000424196
0.055
ENST00000456033
0.055
ENST00000411531
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184319746C>G , CM000665.2:g.184319746C>G | GRCh38 |
| NC_000003.11:g.184037534C>G , CM000665.1:g.184037534C>G | GRCh37 |
| NC_000003.10:g.185520228C>G | NCBI36 |
| NG_016850.1:g.10179C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.482C>G (EIF4G1) MANE Select | ENSP00000316879.5:p.Thr161Ser | |
| ENST00000435046.7:c.416C>G (EIF4G1) | ENSP00000404754.3:p.Thr139Ser | |
| ENST00000676206.1:c.58C>G (EIF4G1) | ||
| ENST00000342981.8:c.482C>G (EIF4G1) | ENSP00000343450.4:p.Thr161Ser | |
| ENST00000346169.6:c.482C>G (EIF4G1) | ENSP00000316879.4:p.Thr161Ser | |
| ENST00000350481.9:c.-11C>G (EIF4G1) | ENSP00000317600.8:n.-11C>G | |
| ENST00000352767.7:c.503C>G (EIF4G1) | ENSP00000338020.4:p.Thr168Ser | |
| ENST00000382330.7:c.503C>G (EIF4G1) | ENSP00000371767.3:p.Thr168Ser | |
| ENST00000392537.6:c.221C>G (EIF4G1) | ENSP00000376320.2:p.Thr74Ser | |
| ENST00000411531.5:c.362C>G (EIF4G1) | ENSP00000395974.1:p.Thr121Ser | |
| ENST00000413967.5:c.205C>G (EIF4G1) | ENSP00000390755.1:p.Pro69Ala | |
| ENST00000414031.5:c.362C>G (EIF4G1) | ENSP00000391935.1:p.Thr121Ser | |
| ENST00000421110.5:c.503C>G (EIF4G1) | ENSP00000413159.1:p.Thr168Ser | |
| ENST00000424196.5:c.503C>G (EIF4G1) | ENSP00000416255.1:p.Thr168Ser | |
| ENST00000426123.5:c.305C>G (EIF4G1) | ENSP00000403269.1:p.Thr102Ser | |
| ENST00000427141.6:c.221C>G (EIF4G1) | ENSP00000411214.2:p.Thr74Ser | |
| ENST00000427845.5:c.221C>G (EIF4G1) | ENSP00000407682.1:p.Thr74Ser | |
| ENST00000442406.5:c.-11C>G (EIF4G1) | ENSP00000400351.1:n.-11C>G | |
| ENST00000444134.5:c.-51-884C>G (EIF4G1) | ENSP00000407244.1:n.-51-884C>G | |
| ENST00000444495.1:c.2106+175039C>G (EIF2B5) | ENSP00000409142.1:n.2106+175039C>G | |
| ENST00000444861.5:c.-11C>G (EIF4G1) | ENSP00000398145.1:n.-11C>G | |
| ENST00000450424.5:c.482C>G (EIF4G1) | ENSP00000391412.1:p.Thr161Ser | |
| ENST00000456033.5:c.332C>G (EIF4G1) | ENSP00000415943.1:p.Thr111Ser | |
| ENST00000484862.5:n.122C>G (EIF4G1) | ||
| NM_001194946.1:c.503C>G (EIF4G1) | NP_001181875.1:p.Ala168Gly | |
| NM_001194947.1:c.503C>G (EIF4G1) | NP_001181876.1:p.Ala168Gly | |
| NM_001291157.1:c.362C>G (EIF4G1) | NP_001278086.1:p.Ala121Gly | |
| NM_182917.4:c.482C>G (EIF4G1) | NP_886553.3:p.Ala161Gly | |
| NM_198241.2:c.482C>G (EIF4G1) | NP_937884.1:p.Ala161Gly | |
| NM_198242.2:c.-11C>G (EIF4G1) | NP_937885.1:n.-11C>G | |
| NM_198244.2:c.221C>G (EIF4G1) | NP_937887.1:p.Ala74Gly | |
| NM_001194946.2:c.503C>G (EIF4G1) | NP_001181875.2:p.Thr168Ser | |
| NM_001291157.2:c.362C>G (EIF4G1) | NP_001278086.2:p.Thr121Ser | |
| NM_198241.3:c.482C>G (EIF4G1) MANE Select | NP_937884.2:p.Thr161Ser | |
| NM_198242.3:c.-11C>G (EIF4G1) | NP_937885.1:n.-11C>G | |
| NM_198244.3:c.221C>G (EIF4G1) | NP_937887.2:p.Thr74Ser | |
| NM_001194947.2:c.503C>G (EIF4G1) | NP_001181876.2:p.Thr168Ser |