Revel Score:
ENST00000360289
0.524
ENST00000448642
0.524
ENST00000404387
0.524
ENST00000298649
0.524
ENST00000359426 (MANE Select)
0.524
ENST00000405407
0.524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69382603A>T , CM000672.2:g.69382603A>T | GRCh38 |
| NC_000010.10:g.71142359A>T , CM000672.1:g.71142359A>T | GRCh37 |
| NC_000010.9:g.70812365A>T | NCBI36 |
| NG_012077.1:g.117604A>T , LRG_365:g.117604A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1382A>T | ENSP00000515580.1:p.Tyr461Phe | |
| ENST00000703945.1:c.1298A>T | ENSP00000515578.1:p.Tyr433Phe | |
| ENST00000703946.1:c.1265+2508A>T | ENSP00000515579.1:n.1265+2508A>T | |
| ENST00000703947.1:c.992A>T | ENSP00000515581.1:p.Tyr331Phe | |
| ENST00000703948.1:c.*999A>T | ENSP00000515582.1:n.*999A>T | |
| ENST00000703949.1:c.1382A>T | ENSP00000515583.1:p.Tyr461Phe | |
| ENST00000703950.1:c.1382A>T | ENSP00000515584.1:p.Tyr461Phe | |
| ENST00000703951.1:c.1265+2508A>T | ENSP00000515585.1:n.1265+2508A>T | |
| ENST00000703952.1:c.1265+2508A>T | ENSP00000515586.1:n.1265+2508A>T | |
| ENST00000703953.1:c.*645A>T | ENSP00000515587.1:n.*645A>T | |
| ENST00000703954.1:c.1262A>T | ENSP00000515588.1:p.Tyr421Phe | |
| ENST00000703955.1:n.1932A>T | ||
| ENST00000298649.8:c.1379A>T | ENSP00000298649.3:p.Tyr460Phe | |
| ENST00000359426.7:c.1382A>T MANE Select | ENSP00000352398.6:p.Tyr461Phe | |
| ENST00000436817.6:c.1394A>T | ENSP00000415949.2:p.Tyr465Phe | |
| ENST00000493591.6:c.*1270A>T | ENSP00000494917.1:n.*1270A>T | |
| ENST00000643399.2:c.1394A>T MANE Plus Clinical | ENSP00000494664.1:p.Tyr465Phe | |
| ENST00000298649.7:c.1379A>T | ENSP00000298649.3:p.Tyr460Phe | |
| ENST00000359426.6:c.1382A>T | ENSP00000352398.6:p.Tyr461Phe | |
| ENST00000360289.6:c.1346A>T | ENSP00000353433.2:p.Tyr449Phe | |
| ENST00000448642.6:c.1394A>T | ENSP00000402103.3:p.Tyr465Phe | |
| ENST00000494253.1:n.1608A>T | ||
| NM_000188.2:c.1382A>T | NP_000179.2:p.Tyr461Phe | |
| NM_033496.2:c.1379A>T | NP_277031.1:p.Tyr460Phe | |
| NM_033497.2:c.1394A>T | NP_277032.1:p.Tyr465Phe | |
| NM_033498.2:c.1394A>T | NP_277033.1:p.Tyr465Phe | |
| NM_033500.2:c.1346A>T , LRG_365t1:c.1346A>T | NP_277035.2:p.Tyr449Phe | |
| XM_005269735.2:c.1511A>T | XP_005269792.1:p.Tyr504Phe | |
| XM_005269736.1:c.1394A>T | XP_005269793.1:p.Tyr465Phe | |
| XM_005269737.1:c.1298A>T | XP_005269794.1:p.Tyr433Phe | |
| XM_011539732.1:c.1346A>T | XP_011538034.1:p.Tyr449Phe | |
| XM_011539733.1:c.1340A>T | XP_011538035.1:p.Tyr447Phe | |
| XM_011539734.1:c.1337A>T | XP_011538036.1:p.Tyr446Phe | |
| NM_001322364.1:c.1394A>T | NP_001309293.1:p.Tyr465Phe | |
| NM_001322365.1:c.1487A>T | NP_001309294.1:p.Tyr496Phe | |
| NM_001322366.1:c.1298A>T | NP_001309295.1:p.Tyr433Phe | |
| NM_001322367.1:c.1286A>T | NP_001309296.1:p.Tyr429Phe | |
| NM_001358263.1:c.1394A>T MANE Plus Clinical | NP_001345192.1:p.Tyr465Phe | |
| XM_024447969.1:c.1394A>T | XP_024303737.1:p.Tyr465Phe | |
| NM_000188.3:c.1382A>T MANE Select | NP_000179.2:p.Tyr461Phe | |
| NM_001322364.2:c.1394A>T | NP_001309293.1:p.Tyr465Phe | |
| NM_001322365.2:c.1487A>T | NP_001309294.1:p.Tyr496Phe | |
| NM_033496.3:c.1379A>T | NP_277031.1:p.Tyr460Phe | |
| NM_033497.3:c.1394A>T | NP_277032.1:p.Tyr465Phe | |
| NM_033498.3:c.1394A>T | NP_277033.1:p.Tyr465Phe |