Revel Score:
ENST00000529029
0.511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102223655G>T , CM000673.2:g.102223655G>T | GRCh38 |
| NC_000011.9:g.102094386G>T , CM000673.1:g.102094386G>T | GRCh37 |
| NC_000011.8:g.101599596G>T | NCBI36 |
| NG_029530.1:g.118195G>T | |
| NG_029530.2:g.118195G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282441.10:c.1066G>T MANE Select | ENSP00000282441.5:p.Glu356Ter | |
| ENST00000282441.9:c.1066G>T | ENSP00000282441.5:p.Glu356Ter | |
| ENST00000345877.6:c.964G>T | ENSP00000331023.4:p.Glu322Ter | |
| ENST00000524575.5:c.532G>T | ENSP00000435602.1:p.Glu178Ter | |
| ENST00000526343.5:c.904G>T | ENSP00000434134.1:p.Glu302Ter | |
| ENST00000529029.1:c.327G>T | ||
| ENST00000531439.5:c.1018G>T | ENSP00000431574.1:p.Glu340Ter | |
| ENST00000537274.5:c.1030G>T | ENSP00000445635.1:p.Glu344Ter | |
| ENST00000615667.4:c.1078G>T | ENSP00000478927.1:p.Glu360Ter | |
| ENST00000629586.2:c.916G>T | ENSP00000487519.1:p.Glu306Ter | |
| NM_001130145.2:c.1066G>T | NP_001123617.1:p.Glu356Ter | |
| NM_001195044.1:c.1018G>T | NP_001181973.1:p.Glu340Ter | |
| NM_001195045.1:c.532G>T | NP_001181974.1:p.Glu178Ter | |
| NM_001282097.1:c.952G>T | NP_001269026.1:p.Glu318Ter | |
| NM_001282098.1:c.916G>T | NP_001269027.1:p.Glu306Ter | |
| NM_001282099.1:c.964G>T | NP_001269028.1:p.Glu322Ter | |
| NM_001282100.1:c.1030G>T | NP_001269029.1:p.Glu344Ter | |
| NM_001282101.1:c.1078G>T | NP_001269030.1:p.Glu360Ter | |
| NM_006106.4:c.904G>T | NP_006097.2:p.Glu302Ter | |
| XM_005271378.2:c.1084G>T | XP_005271435.1:p.Glu362Ter | |
| XM_005271380.2:c.1072G>T | XP_005271437.1:p.Glu358Ter | |
| XM_005271381.2:c.1036G>T | XP_005271438.1:p.Glu346Ter | |
| XM_005271383.2:c.1024G>T | XP_005271440.1:p.Glu342Ter | |
| XM_011542555.1:c.550G>T | XP_011540857.1:p.Glu184Ter | |
| XM_011542556.1:c.544G>T | XP_011540858.1:p.Glu182Ter | |
| XM_005271378.3:c.1084G>T | XP_005271435.1:p.Glu362Ter | |
| XM_005271380.3:c.1072G>T | XP_005271437.1:p.Glu358Ter | |
| XM_005271381.3:c.1036G>T | XP_005271438.1:p.Glu346Ter | |
| XM_005271383.3:c.1024G>T | XP_005271440.1:p.Glu342Ter | |
| XM_011542555.2:c.550G>T | XP_011540857.1:p.Glu184Ter | |
| XM_011542556.2:c.544G>T | XP_011540858.1:p.Glu182Ter | |
| XM_017017093.1:c.484G>T | XP_016872582.1:p.Glu162Ter | |
| NM_001130145.3:c.1066G>T MANE Select | NP_001123617.1:p.Glu356Ter | |
| NM_001195044.2:c.1018G>T | NP_001181973.1:p.Glu340Ter | |
| NM_001195045.2:c.532G>T | NP_001181974.1:p.Glu178Ter | |
| NM_001282097.2:c.952G>T | NP_001269026.1:p.Glu318Ter | |
| NM_001282098.2:c.916G>T | NP_001269027.1:p.Glu306Ter | |
| NM_006106.5:c.904G>T | NP_006097.2:p.Glu302Ter | |
| NM_001282099.2:c.964G>T | NP_001269028.1:p.Glu322Ter | |
| NM_001282100.2:c.1030G>T | NP_001269029.1:p.Glu344Ter | |
| NM_001282101.2:c.1078G>T | NP_001269030.1:p.Glu360Ter |