Revel Score:
ENST00000346169 (MANE Select)
0.080
ENST00000414031
0.080
ENST00000392537
0.080
ENST00000450424
0.080
ENST00000421110
0.080
ENST00000382330
0.080
ENST00000426123
0.080
ENST00000350481
0.080
ENST00000352767
0.080
ENST00000427845
0.080
ENST00000342981
0.080
ENST00000319274
0.080
ENST00000424196
0.080
ENST00000411531
0.080
ENST00000444861
0.080
ENST00000441154
0.080
ENST00000434061
0.080
ENST00000457456
0.080
ENST00000435046
0.080
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184321878A>C , CM000665.2:g.184321878A>C | GRCh38 |
| NC_000003.11:g.184039666A>C , CM000665.1:g.184039666A>C | GRCh37 |
| NC_000003.10:g.185522360A>C | NCBI36 |
| NG_016850.1:g.12311A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.1294A>C (EIF4G1) MANE Select | ENSP00000316879.5:p.Met432Leu | |
| ENST00000435046.7:c.1228A>C (EIF4G1) | ENSP00000404754.3:p.Met410Leu | |
| ENST00000676453.1:c.664A>C (EIF4G1) | ENSP00000501695.1:p.Met222Leu | |
| ENST00000319274.10:c.706A>C (EIF4G1) | ENSP00000323737.7:p.Met236Leu | |
| ENST00000342981.8:c.1294A>C (EIF4G1) | ENSP00000343450.4:p.Met432Leu | |
| ENST00000346169.6:c.1294A>C (EIF4G1) | ENSP00000316879.4:p.Met432Leu | |
| ENST00000350481.9:c.802A>C (EIF4G1) | ENSP00000317600.8:p.Met268Leu | |
| ENST00000352767.7:c.1315A>C (EIF4G1) | ENSP00000338020.4:p.Met439Leu | |
| ENST00000382330.7:c.1315A>C (EIF4G1) | ENSP00000371767.3:p.Met439Leu | |
| ENST00000392537.6:c.1033A>C (EIF4G1) | ENSP00000376320.2:p.Met345Leu | |
| ENST00000411531.5:c.1174A>C (EIF4G1) | ENSP00000395974.1:p.Met392Leu | |
| ENST00000413967.5:c.*801A>C (EIF4G1) | ENSP00000390755.1:n.*801A>C | |
| ENST00000414031.5:c.1174A>C (EIF4G1) | ENSP00000391935.1:p.Met392Leu | |
| ENST00000421110.5:c.1315A>C (EIF4G1) | ENSP00000413159.1:p.Met439Leu | |
| ENST00000424196.5:c.1315A>C (EIF4G1) | ENSP00000416255.1:p.Met439Leu | |
| ENST00000426123.5:c.1117A>C (EIF4G1) | ENSP00000403269.1:p.Met373Leu | |
| ENST00000427845.5:c.1033A>C (EIF4G1) | ENSP00000407682.1:p.Met345Leu | |
| ENST00000434061.6:c.706A>C (EIF4G1) | ENSP00000411826.2:p.Met236Leu | |
| ENST00000435046.6:c.706A>C (EIF4G1) | ENSP00000404754.2:p.Met236Leu | |
| ENST00000441154.5:c.802A>C (EIF4G1) | ENSP00000399858.1:p.Met268Leu | |
| ENST00000442406.5:c.*733A>C (EIF4G1) | ENSP00000400351.1:n.*733A>C | |
| ENST00000444495.1:c.2106+177171A>C (EIF2B5) | ENSP00000409142.1:n.2106+177171A>C | |
| ENST00000444861.5:c.802A>C (EIF4G1) | ENSP00000398145.1:p.Met268Leu | |
| ENST00000450424.5:c.1294A>C (EIF4G1) | ENSP00000391412.1:p.Met432Leu | |
| ENST00000457456.5:c.706A>C (EIF4G1) | ENSP00000399969.1:p.Met236Leu | |
| NM_001194946.1:c.1315A>C (EIF4G1) | NP_001181875.1:p.Met439Leu | |
| NM_001194947.1:c.1315A>C (EIF4G1) | NP_001181876.1:p.Met439Leu | |
| NM_001291157.1:c.1174A>C (EIF4G1) | NP_001278086.1:p.Met392Leu | |
| NM_004953.4:c.706A>C (EIF4G1) | NP_004944.3:p.Met236Leu | |
| NM_182917.4:c.1294A>C (EIF4G1) | NP_886553.3:p.Met432Leu | |
| NM_198241.2:c.1294A>C (EIF4G1) | NP_937884.1:p.Met432Leu | |
| NM_198242.2:c.802A>C (EIF4G1) | NP_937885.1:p.Met268Leu | |
| NM_198244.2:c.1033A>C (EIF4G1) | NP_937887.1:p.Met345Leu | |
| NM_001194946.2:c.1315A>C (EIF4G1) | NP_001181875.2:p.Met439Leu | |
| NM_001291157.2:c.1174A>C (EIF4G1) | NP_001278086.2:p.Met392Leu | |
| NM_004953.5:c.706A>C (EIF4G1) | NP_004944.3:p.Met236Leu | |
| NM_198241.3:c.1294A>C (EIF4G1) MANE Select | NP_937884.2:p.Met432Leu | |
| NM_198242.3:c.802A>C (EIF4G1) | NP_937885.1:p.Met268Leu | |
| NM_198244.3:c.1033A>C (EIF4G1) | NP_937887.2:p.Met345Leu | |
| NM_001194947.2:c.1315A>C (EIF4G1) | NP_001181876.2:p.Met439Leu |