Revel Score:
ENST00000401500 (MANE Select)
0.523
ENST00000270301
0.523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36090516T>C , CM000681.2:g.36090516T>C | GRCh38 |
| NC_000019.9:g.36581418T>C , CM000681.1:g.36581418T>C | GRCh37 |
| NC_000019.8:g.41273258T>C | NCBI36 |
| NG_028101.1:g.40636T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.2030T>C | ENSP00000270301.6:p.Leu677Pro | |
| ENST00000401500.7:c.2030T>C MANE Select | ENSP00000384792.1:p.Leu677Pro | |
| ENST00000587391.6:c.*720T>C | ENSP00000465525.1:n.*720T>C | |
| ENST00000679489.1:c.348T>C | ||
| ENST00000679682.1:c.2015T>C | ENSP00000506226.1:p.Leu672Pro | |
| ENST00000679714.1:c.2024T>C | ENSP00000506627.1:p.Leu675Pro | |
| ENST00000679757.1:c.1679T>C | ENSP00000505158.1:p.Leu560Pro | |
| ENST00000679858.1:c.*827T>C | ENSP00000505655.1:n.*827T>C | |
| ENST00000680349.1:n.13T>C | ||
| ENST00000680377.1:c.480T>C | ||
| ENST00000680403.1:c.2030T>C | ENSP00000505677.1:p.Leu677Pro | |
| ENST00000680489.1:n.2353T>C | ||
| ENST00000680564.1:c.2030T>C | ENSP00000505582.1:p.Leu677Pro | |
| ENST00000680590.1:c.*429T>C | ENSP00000505350.1:n.*429T>C | |
| ENST00000680806.1:c.*859T>C | ENSP00000506418.1:n.*859T>C | |
| ENST00000680858.1:c.408+1210T>C | ||
| ENST00000681302.1:c.480T>C | ||
| ENST00000681625.1:c.2015T>C | ENSP00000505555.1:p.Leu672Pro | |
| ENST00000270301.11:c.2030T>C | ENSP00000270301.6:p.Leu677Pro | |
| ENST00000401500.6:c.2030T>C | ENSP00000384792.1:p.Leu677Pro | |
| ENST00000587391.5:c.*720T>C | ENSP00000465525.1:n.*720T>C | |
| NM_001083961.1:c.2030T>C | NP_001077430.1:p.Leu677Pro | |
| NM_173636.4:c.2030T>C | NP_775907.4:p.Leu677Pro | |
| XM_005258809.2:c.2030T>C | XP_005258866.1:p.Leu677Pro | |
| XM_011526837.1:c.2015T>C | XP_011525139.1:p.Leu672Pro | |
| XM_011526838.1:c.2030T>C | XP_011525140.1:p.Leu677Pro | |
| XM_011526839.1:c.1679T>C | XP_011525141.1:p.Leu560Pro | |
| XM_011526840.1:c.1022T>C | XP_011525142.1:p.Leu341Pro | |
| XM_011526841.1:c.608T>C | XP_011525143.1:p.Leu203Pro | |
| XM_011526842.1:c.461T>C | XP_011525144.1:p.Leu154Pro | |
| XM_011526843.1:c.-48T>C | XP_011525145.1:n.-48T>C | |
| XM_011526840.2:c.1022T>C | XP_011525142.1:p.Leu341Pro | |
| XM_011526841.2:c.608T>C | XP_011525143.1:p.Leu203Pro | |
| XM_017026665.1:c.2030T>C | XP_016882154.1:p.Leu677Pro | |
| XR_001753671.1:n.2121T>C | ||
| XR_001753672.1:n.2121T>C | ||
| NM_001083961.2:c.2030T>C MANE Select | NP_001077430.1:p.Leu677Pro | |
| NM_173636.5:c.2030T>C | NP_775907.4:p.Leu677Pro |