Revel Score:
ENST00000401500 (MANE Select)
0.167
ENST00000270301
0.167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36099532A>T , CM000681.2:g.36099532A>T | GRCh38 |
| NC_000019.9:g.36590434A>T , CM000681.1:g.36590434A>T | GRCh37 |
| NC_000019.8:g.41282274A>T | NCBI36 |
| NG_028101.1:g.49652A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.2654A>T | ENSP00000270301.6:p.Tyr885Phe | |
| ENST00000401500.7:c.2654A>T MANE Select | ENSP00000384792.1:p.Tyr885Phe | |
| ENST00000587391.6:c.*1344A>T | ENSP00000465525.1:n.*1344A>T | |
| ENST00000679357.1:c.444A>T | ||
| ENST00000679422.1:c.444A>T | ||
| ENST00000679682.1:c.2639A>T | ENSP00000506226.1:p.Tyr880Phe | |
| ENST00000679714.1:c.2648A>T | ENSP00000506627.1:p.Tyr883Phe | |
| ENST00000679757.1:c.2303A>T | ENSP00000505158.1:p.Tyr768Phe | |
| ENST00000679858.1:c.*1451A>T | ENSP00000505655.1:n.*1451A>T | |
| ENST00000680349.1:n.637A>T | ||
| ENST00000680377.1:c.928A>T | ||
| ENST00000680403.1:c.2654A>T | ENSP00000505677.1:p.Tyr885Phe | |
| ENST00000680564.1:c.2654A>T | ENSP00000505582.1:p.Tyr885Phe | |
| ENST00000680590.1:c.*1053A>T | ENSP00000505350.1:n.*1053A>T | |
| ENST00000680806.1:c.*1483A>T | ENSP00000506418.1:n.*1483A>T | |
| ENST00000680858.1:c.852A>T | ||
| ENST00000681088.1:c.444A>T | ||
| ENST00000681302.1:c.1040A>T | ||
| ENST00000681625.1:c.2635A>T | ENSP00000505555.1:p.Thr879Ser | |
| ENST00000270301.11:c.2654A>T | ENSP00000270301.6:p.Tyr885Phe | |
| ENST00000401500.6:c.2654A>T | ENSP00000384792.1:p.Tyr885Phe | |
| ENST00000587391.5:c.*1344A>T | ENSP00000465525.1:n.*1344A>T | |
| NM_001083961.1:c.2654A>T | NP_001077430.1:p.Tyr885Phe | |
| NM_173636.4:c.2654A>T | NP_775907.4:p.Tyr885Phe | |
| XM_005258809.2:c.2654A>T | XP_005258866.1:p.Tyr885Phe | |
| XM_011526837.1:c.2639A>T | XP_011525139.1:p.Tyr880Phe | |
| XM_011526838.1:c.2654A>T | XP_011525140.1:p.Tyr885Phe | |
| XM_011526839.1:c.2303A>T | XP_011525141.1:p.Tyr768Phe | |
| XM_011526840.1:c.1646A>T | XP_011525142.1:p.Tyr549Phe | |
| XM_011526841.1:c.1232A>T | XP_011525143.1:p.Tyr411Phe | |
| XM_011526842.1:c.1085A>T | XP_011525144.1:p.Tyr362Phe | |
| XM_011526843.1:c.401A>T | XP_011525145.1:p.Tyr134Phe | |
| XM_011526844.1:c.401A>T | XP_011525146.1:p.Tyr134Phe | |
| XM_011526840.2:c.1646A>T | XP_011525142.1:p.Tyr549Phe | |
| XM_011526841.2:c.1232A>T | XP_011525143.1:p.Tyr411Phe | |
| XM_011526844.2:c.401A>T | XP_011525146.1:p.Tyr134Phe | |
| XM_017026665.1:c.2654A>T | XP_016882154.1:p.Tyr885Phe | |
| NM_001083961.2:c.2654A>T MANE Select | NP_001077430.1:p.Tyr885Phe | |
| NM_173636.5:c.2654A>T | NP_775907.4:p.Tyr885Phe |