Revel Score:
ENST00000371953 (MANE Select)
0.462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965321C>G , CM000672.2:g.87965321C>G | GRCh38 |
| NC_000010.10:g.89725078C>G , CM000672.1:g.89725078C>G | GRCh37 |
| NC_000010.9:g.89715058C>G | NCBI36 |
| NG_007466.2:g.106883C>G , LRG_311:g.106883C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1154C>G | ENSP00000514759.2:p.Pro385Arg | |
| ENST00000710265.1:c.*90C>G | ENSP00000518161.1:n.*90C>G | |
| ENST00000688158.2:n.1796C>G | ||
| ENST00000688922.2:c.*891C>G | ENSP00000508742.2:n.*891C>G | |
| ENST00000700021.1:c.1016C>G | ENSP00000514757.1:p.Pro339Arg | |
| ENST00000700022.1:c.*400C>G | ENSP00000514758.1:n.*400C>G | |
| ENST00000700023.1:n.2219C>G | ||
| ENST00000700024.1:n.2453C>G | ||
| ENST00000706954.1:c.1061C>G | ENSP00000516674.1:p.Pro354Arg | |
| ENST00000706955.1:c.*1096C>G | ENSP00000516675.1:n.*1096C>G | |
| ENST00000686459.1:c.*647C>G | ENSP00000508909.1:n.*647C>G | |
| ENST00000688158.1:c.*1172C>G | ENSP00000509254.1:n.*1172C>G | |
| ENST00000688308.1:c.1061C>G | ENSP00000508752.1:p.Pro354Arg | |
| ENST00000688922.1:c.982C>G | ||
| ENST00000693560.1:c.1580C>G | ENSP00000509861.1:p.Pro527Arg | |
| ENST00000371953.8:c.1061C>G MANE Select | ENSP00000361021.3:p.Pro354Arg | |
| ENST00000371953.7:c.1061C>G | ENSP00000361021.3:p.Pro354Arg | |
| NM_000314.5:c.1061C>G | NP_000305.3:p.Pro354Arg | |
| NM_000314.6:c.1061C>G | NP_000305.3:p.Pro354Arg | |
| NM_001304717.2:c.1580C>G | NP_001291646.2:p.Pro527Arg | |
| NM_001304718.1:c.470C>G | NP_001291647.1:p.Pro157Arg | |
| XM_006717926.2:c.1016C>G | XP_006717989.1:p.Pro339Arg | |
| XM_011539982.1:c.965C>G | XP_011538284.1:p.Pro322Arg | |
| XR_945791.1:n.1631C>G | ||
| NM_000314.7:c.1061C>G | NP_000305.3:p.Pro354Arg | |
| NM_001304717.5:c.1580C>G | NP_001291646.4:p.Pro527Arg | |
| NM_001304718.2:c.470C>G | NP_001291647.1:p.Pro157Arg | |
| NM_000314.8:c.1061C>G MANE Select | NP_000305.3:p.Pro354Arg |