Revel Score:
ENST00000346169 (MANE Select)
0.036
ENST00000414031
0.036
ENST00000392537
0.036
ENST00000450424
0.036
ENST00000421110
0.036
ENST00000382330
0.036
ENST00000426123
0.036
ENST00000352767
0.036
ENST00000427141
0.036
ENST00000427845
0.036
ENST00000342981
0.036
ENST00000319274
0.036
ENST00000424196
0.036
ENST00000456033
0.036
ENST00000411531
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99463707 (NFE)
Genomes Max Group AF
0.99112731 (AFR)
Exomes Max Group AF
0.99456052 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184319745A>G , CM000665.2:g.184319745A>G | GRCh38 |
| NC_000003.11:g.184037533A>G , CM000665.1:g.184037533A>G | GRCh37 |
| NC_000003.10:g.185520227A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.481A>G (EIF4G1) MANE Select | ENSP00000316879.5:p.Thr161Ala | |
| ENST00000435046.7:c.415A>G (EIF4G1) | ENSP00000404754.3:p.Thr139Ala | |
| ENST00000676206.1:c.57A>G (EIF4G1) | ||
| ENST00000342981.8:c.481A>G (EIF4G1) | ENSP00000343450.4:p.Thr161Ala | |
| ENST00000346169.6:c.481A>G (EIF4G1) | ENSP00000316879.4:p.Thr161Ala | |
| ENST00000350481.9:c.-12A>G (EIF4G1) | ENSP00000317600.8:n.-12A>G | |
| ENST00000352767.7:c.502A>G (EIF4G1) | ENSP00000338020.4:p.Thr168Ala | |
| ENST00000382330.7:c.502A>G (EIF4G1) | ENSP00000371767.3:p.Thr168Ala | |
| ENST00000392537.6:c.220A>G (EIF4G1) | ENSP00000376320.2:p.Thr74Ala | |
| ENST00000411531.5:c.361A>G (EIF4G1) | ENSP00000395974.1:p.Thr121Ala | |
| ENST00000413967.5:c.204A>G (EIF4G1) | ENSP00000390755.1:p.Pro68= | |
| ENST00000414031.5:c.361A>G (EIF4G1) | ENSP00000391935.1:p.Thr121Ala | |
| ENST00000421110.5:c.502A>G (EIF4G1) | ENSP00000413159.1:p.Thr168Ala | |
| ENST00000424196.5:c.502A>G (EIF4G1) | ENSP00000416255.1:p.Thr168Ala | |
| ENST00000426123.5:c.304A>G (EIF4G1) | ENSP00000403269.1:p.Thr102Ala | |
| ENST00000427141.6:c.220A>G (EIF4G1) | ENSP00000411214.2:p.Thr74Ala | |
| ENST00000427845.5:c.220A>G (EIF4G1) | ENSP00000407682.1:p.Thr74Ala | |
| ENST00000442406.5:c.-12A>G (EIF4G1) | ENSP00000400351.1:n.-12A>G | |
| ENST00000444134.5:c.-51-885A>G (EIF4G1) | ENSP00000407244.1:n.-51-885A>G | |
| ENST00000444495.1:c.2106+175038A>G (EIF2B5) | ENSP00000409142.1:n.2106+175038A>G | |
| ENST00000444861.5:c.-12A>G (EIF4G1) | ENSP00000398145.1:n.-12A>G | |
| ENST00000450424.5:c.481A>G (EIF4G1) | ENSP00000391412.1:p.Thr161Ala | |
| ENST00000456033.5:c.331A>G (EIF4G1) | ENSP00000415943.1:p.Thr111Ala | |
| ENST00000484862.5:n.121A>G (EIF4G1) | ||
| NM_001194946.2:c.502A>G (EIF4G1) | NP_001181875.2:p.Thr168Ala | |
| NM_001291157.2:c.361A>G (EIF4G1) | NP_001278086.2:p.Thr121Ala | |
| NM_198241.3:c.481A>G (EIF4G1) MANE Select | NP_937884.2:p.Thr161Ala | |
| NM_198242.3:c.-12A>G (EIF4G1) | NP_937885.1:n.-12A>G | |
| NM_198244.3:c.220A>G (EIF4G1) | NP_937887.2:p.Thr74Ala | |
| NM_001194947.2:c.502A>G (EIF4G1) | NP_001181876.2:p.Thr168Ala |