Revel Score:
ENST00000315684
0.847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8228592A>G , CM000679.2:g.8228592A>G | GRCh38 |
| NC_000017.10:g.8131910A>G , CM000679.1:g.8131910A>G | GRCh37 |
| NC_000017.9:g.8072635A>G | NCBI36 |
| NG_032148.1:g.24504T>C | |
| NG_032148.2:g.24504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3161T>C | ENSP00000462607.2:p.Leu1054Pro | |
| ENST00000581729.2:c.3194T>C | ENSP00000462720.2:p.Leu1065Pro | |
| ENST00000699849.1:c.2297T>C | ENSP00000514647.1:p.Leu766Pro | |
| ENST00000699850.1:n.3357T>C | ||
| ENST00000699851.1:n.4311T>C | ||
| ENST00000699852.1:c.*1938T>C | ENSP00000514648.1:n.*1938T>C | |
| ENST00000699853.1:c.*10T>C | ENSP00000514649.1:n.*10T>C | |
| ENST00000699854.1:n.3984T>C | ||
| ENST00000699855.1:n.4548T>C | ||
| ENST00000699856.1:c.*376T>C | ENSP00000514650.1:n.*376T>C | |
| ENST00000699857.1:n.4004T>C | ||
| ENST00000699858.1:c.*2709T>C | ENSP00000514651.1:n.*2709T>C | |
| ENST00000699859.1:c.*161T>C | ENSP00000514652.1:n.*161T>C | |
| ENST00000699860.1:n.2103T>C | ||
| ENST00000699861.1:n.3888T>C | ||
| ENST00000449476.7:c.*159T>C | ENSP00000396018.2:n.*159T>C | |
| ENST00000581671.2:n.3414T>C | ||
| ENST00000643543.1:c.*2132T>C | ENSP00000494323.1:n.*2132T>C | |
| ENST00000651323.1:c.3425T>C MANE Select | ENSP00000498499.1:p.Leu1142Pro | |
| ENST00000315684.12:c.3425T>C | ENSP00000313759.8:p.Leu1142Pro | |
| ENST00000449476.6:c.*159T>C | ENSP00000396018.2:n.*159T>C | |
| ENST00000580299.1:c.332T>C | ENSP00000462607.1:p.Leu111Pro | |
| ENST00000581729.1:c.142T>C | ||
| NM_025099.5:c.3425T>C | NP_079375.3:p.Leu1142Pro | |
| NR_046431.1:n.3314T>C | ||
| XM_006721577.2:c.3296T>C | XP_006721640.1:p.Leu1099Pro | |
| XM_006721578.2:c.3194T>C | XP_006721641.1:p.Leu1065Pro | |
| XM_011524010.1:c.3320T>C | XP_011522312.1:p.Leu1107Pro | |
| XM_011524011.1:c.2528T>C | XP_011522313.1:p.Leu843Pro | |
| XR_429823.2:n.3302T>C | ||
| XR_429824.2:n.3403T>C | ||
| NM_025099.6:c.3425T>C MANE Select | NP_079375.3:p.Leu1142Pro | |
| XM_006721577.3:c.3296T>C | XP_006721640.1:p.Leu1099Pro | |
| XM_006721578.3:c.3194T>C | XP_006721641.1:p.Leu1065Pro | |
| XM_011524010.2:c.3320T>C | XP_011522312.1:p.Leu1107Pro | |
| XM_011524011.2:c.2528T>C | XP_011522313.1:p.Leu843Pro | |
| XR_001752639.1:n.3276T>C | ||
| XR_001752640.1:n.3424T>C | ||
| XR_001752641.1:n.3359T>C | ||
| XR_001752642.1:n.3209T>C | ||
| XR_002958073.1:n.3715T>C | ||
| XR_429823.3:n.3302T>C | ||
| XR_429824.3:n.3403T>C | ||
| NR_046431.2:n.3275T>C |