Revel Score:
ENST00000370018
0.110
ENST00000318100
0.110
ENST00000508582
0.110
ENST00000360203 (MANE Select)
0.110
ENST00000425905
0.110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63690178G>A , CM000682.2:g.63690178G>A | GRCh38 |
| NC_000020.10:g.62321531G>A , CM000682.1:g.62321531G>A | GRCh37 |
| NC_000020.9:g.61791975G>A | NCBI36 |
| NG_033901.1:g.37369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1760G>A (RTEL1) | ||
| ENST00000425905.6:c.1760G>A (RTEL1) | ||
| ENST00000697815.1:n.192G>A (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.2305G>A (RTEL1) | ENSP00000424307.2:p.Val769Met | |
| ENST00000687123.1:n.1859G>A (RTEL1) | ||
| ENST00000318100.9:c.1564G>A (RTEL1) | ENSP00000322287.5:p.Val522Met | |
| ENST00000360203.11:c.2233G>A (RTEL1) MANE Select | ENSP00000353332.5:p.Val745Met | |
| ENST00000482936.6:c.2233G>A (RTEL1) | ENSP00000457868.2:p.Val745Met | |
| ENST00000496281.2:n.1277G>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1564G>A (RTEL1) | ENSP00000322287.5:p.Val522Met | |
| ENST00000360203.9:c.2233G>A (RTEL1) | ENSP00000353332.5:p.Val745Met | |
| ENST00000370003.2:c.-33G>A (RTEL1) | ENSP00000359020.1:n.-33G>A | |
| ENST00000370018.7:c.2233G>A (RTEL1) | ENSP00000359035.3:p.Val745Met | |
| ENST00000425905.5:c.412G>A (RTEL1) | ENSP00000388063.1:p.Val138Met | |
| ENST00000480273.5:n.2318G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.2233G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Val745Met | |
| ENST00000492259.6:c.2226-116G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.2226-116G>A | |
| ENST00000496281.1:n.748G>A (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.112G>A (RTEL1) | ENSP00000425576.1:p.Val38Met | |
| ENST00000508582.6:c.2305G>A (RTEL1) | ENSP00000424307.2:p.Val769Met | |
| NM_001283009.1:c.2233G>A (RTEL1) | NP_001269938.1:p.Val745Met | |
| NM_001283010.1:c.1564G>A (RTEL1) | NP_001269939.1:p.Val522Met | |
| NM_016434.3:c.2233G>A (RTEL1) | NP_057518.1:p.Val745Met | |
| NM_032957.4:c.2305G>A (RTEL1) | NP_116575.3:p.Val769Met | |
| NR_037882.1:n.3060G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.2233G>A (RTEL1) MANE Select | NP_001269938.1:p.Val745Met | |
| NM_016434.4:c.2233G>A (RTEL1) | NP_057518.1:p.Val745Met | |
| NM_032957.5:c.2305G>A (RTEL1) | NP_116575.3:p.Val769Met |