Revel Score:
ENST00000361445 (MANE Select)
0.869
ENST00000539766
0.869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11144735C>T , CM000663.2:g.11144735C>T | GRCh38 |
| NC_000001.10:g.11204792C>T , CM000663.1:g.11204792C>T | GRCh37 |
| NC_000001.9:g.11127379C>T | NCBI36 |
| NG_033239.1:g.122817G>A , LRG_734:g.122817G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*160G>A (MTOR) | ENSP00000515181.1:n.*160G>A | |
| ENST00000703131.1:n.705G>A (MTOR) | ||
| ENST00000703140.1:c.4572G>A (MTOR) | ENSP00000515197.1:p.Met1524Ile | |
| ENST00000703141.1:c.*105G>A (MTOR) | ENSP00000515198.1:n.*105G>A | |
| ENST00000703142.1:c.*1615G>A (MTOR) | ENSP00000515199.1:n.*1615G>A | |
| ENST00000361445.9:c.4785G>A (MTOR) MANE Select | ENSP00000354558.4:p.Met1595Ile | |
| ENST00000361445.8:c.4785G>A (MTOR) | ENSP00000354558.4:p.Met1595Ile | |
| ENST00000495435.1:n.291G>A (MTOR) | ||
| NM_004958.3:c.4785G>A , LRG_734t1:c.4785G>A (MTOR) | NP_004949.1:p.Met1595Ile | |
| NR_046600.1:n.159C>T (MTOR-AS1) | ||
| XM_005263438.1:c.4785G>A (MTOR) | XP_005263495.1:p.Met1595Ile | |
| XR_244786.1:n.4906G>A (MTOR) | ||
| XM_005263438.2:c.4785G>A (MTOR) | XP_005263495.1:p.Met1595Ile | |
| XM_017000900.1:c.4104G>A (MTOR) | XP_016856389.1:p.Met1368Ile | |
| XM_017000901.1:c.3537G>A (MTOR) | XP_016856390.1:p.Met1179Ile | |
| XM_024446187.1:c.4785G>A (MTOR) | XP_024301955.1:p.Met1595Ile | |
| XR_001737087.1:n.4906G>A (MTOR) | ||
| NM_004958.4:c.4785G>A (MTOR) MANE Select | NP_004949.1:p.Met1595Ile | |
| NM_001386500.1:c.4785G>A (MTOR) | NP_001373429.1:p.Met1595Ile | |
| NM_001386501.1:c.3537G>A (MTOR) | NP_001373430.1:p.Met1179Ile |