Revel Score:
ENST00000346169 (MANE Select)
0.022
ENST00000414031
0.022
ENST00000392537
0.022
ENST00000450424
0.022
ENST00000421110
0.022
ENST00000382330
0.022
ENST00000426123
0.022
ENST00000352767
0.022
ENST00000427141
0.022
ENST00000427845
0.022
ENST00000342981
0.022
ENST00000319274
0.022
ENST00000424196
0.022
ENST00000456033
0.022
ENST00000411531
0.022
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184319745A>T , CM000665.2:g.184319745A>T | GRCh38 |
| NC_000003.11:g.184037533A>T , CM000665.1:g.184037533A>T | GRCh37 |
| NC_000003.10:g.185520227A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.481A>T (EIF4G1) MANE Select | ENSP00000316879.5:p.Thr161Ser | |
| ENST00000435046.7:c.415A>T (EIF4G1) | ENSP00000404754.3:p.Thr139Ser | |
| ENST00000676206.1:c.57A>T (EIF4G1) | ||
| ENST00000342981.8:c.481A>T (EIF4G1) | ENSP00000343450.4:p.Thr161Ser | |
| ENST00000346169.6:c.481A>T (EIF4G1) | ENSP00000316879.4:p.Thr161Ser | |
| ENST00000350481.9:c.-12A>T (EIF4G1) | ENSP00000317600.8:n.-12A>T | |
| ENST00000352767.7:c.502A>T (EIF4G1) | ENSP00000338020.4:p.Thr168Ser | |
| ENST00000382330.7:c.502A>T (EIF4G1) | ENSP00000371767.3:p.Thr168Ser | |
| ENST00000392537.6:c.220A>T (EIF4G1) | ENSP00000376320.2:p.Thr74Ser | |
| ENST00000411531.5:c.361A>T (EIF4G1) | ENSP00000395974.1:p.Thr121Ser | |
| ENST00000413967.5:c.204A>T (EIF4G1) | ENSP00000390755.1:p.Pro68= | |
| ENST00000414031.5:c.361A>T (EIF4G1) | ENSP00000391935.1:p.Thr121Ser | |
| ENST00000421110.5:c.502A>T (EIF4G1) | ENSP00000413159.1:p.Thr168Ser | |
| ENST00000424196.5:c.502A>T (EIF4G1) | ENSP00000416255.1:p.Thr168Ser | |
| ENST00000426123.5:c.304A>T (EIF4G1) | ENSP00000403269.1:p.Thr102Ser | |
| ENST00000427141.6:c.220A>T (EIF4G1) | ENSP00000411214.2:p.Thr74Ser | |
| ENST00000427845.5:c.220A>T (EIF4G1) | ENSP00000407682.1:p.Thr74Ser | |
| ENST00000442406.5:c.-12A>T (EIF4G1) | ENSP00000400351.1:n.-12A>T | |
| ENST00000444134.5:c.-51-885A>T (EIF4G1) | ENSP00000407244.1:n.-51-885A>T | |
| ENST00000444495.1:c.2106+175038A>T (EIF2B5) | ENSP00000409142.1:n.2106+175038A>T | |
| ENST00000444861.5:c.-12A>T (EIF4G1) | ENSP00000398145.1:n.-12A>T | |
| ENST00000450424.5:c.481A>T (EIF4G1) | ENSP00000391412.1:p.Thr161Ser | |
| ENST00000456033.5:c.331A>T (EIF4G1) | ENSP00000415943.1:p.Thr111Ser | |
| ENST00000484862.5:n.121A>T (EIF4G1) | ||
| NM_001194946.2:c.502A>T (EIF4G1) | NP_001181875.2:p.Thr168Ser | |
| NM_001291157.2:c.361A>T (EIF4G1) | NP_001278086.2:p.Thr121Ser | |
| NM_198241.3:c.481A>T (EIF4G1) MANE Select | NP_937884.2:p.Thr161Ser | |
| NM_198242.3:c.-12A>T (EIF4G1) | NP_937885.1:n.-12A>T | |
| NM_198244.3:c.220A>T (EIF4G1) | NP_937887.2:p.Thr74Ser | |
| NM_001194947.2:c.502A>T (EIF4G1) | NP_001181876.2:p.Thr168Ser |