Revel Score:
ENST00000370018
0.212
ENST00000318100
0.212
ENST00000508582
0.212
ENST00000360203 (MANE Select)
0.212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63688001G>C , CM000682.2:g.63688001G>C | GRCh38 |
| NC_000020.10:g.62319354G>C , CM000682.1:g.62319354G>C | GRCh37 |
| NC_000020.9:g.61789798G>C | NCBI36 |
| NG_033901.1:g.35192G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1220G>C (RTEL1) | ||
| ENST00000425905.6:c.1220G>C (RTEL1) | ||
| ENST00000508582.7:c.1618G>C (RTEL1) | ENSP00000424307.2:p.Val540Leu | |
| ENST00000687123.1:n.1376G>C (RTEL1) | ||
| ENST00000318100.9:c.877G>C (RTEL1) | ENSP00000322287.5:p.Val293Leu | |
| ENST00000360203.11:c.1546G>C (RTEL1) MANE Select | ENSP00000353332.5:p.Val516Leu | |
| ENST00000482936.6:c.1546G>C (RTEL1) | ENSP00000457868.2:p.Val516Leu | |
| ENST00000318100.8:c.877G>C (RTEL1) | ENSP00000322287.5:p.Val293Leu | |
| ENST00000360203.9:c.1546G>C (RTEL1) | ENSP00000353332.5:p.Val516Leu | |
| ENST00000370018.7:c.1546G>C (RTEL1) | ENSP00000359035.3:p.Val516Leu | |
| ENST00000480273.5:n.1631G>C (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1546G>C (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Val516Leu | |
| ENST00000492259.6:c.1630G>C (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Val544Leu | |
| ENST00000508582.6:c.1618G>C (RTEL1) | ENSP00000424307.2:p.Val540Leu | |
| NM_001283009.1:c.1546G>C (RTEL1) | NP_001269938.1:p.Val516Leu | |
| NM_001283010.1:c.877G>C (RTEL1) | NP_001269939.1:p.Val293Leu | |
| NM_016434.3:c.1546G>C (RTEL1) | NP_057518.1:p.Val516Leu | |
| NM_032957.4:c.1618G>C (RTEL1) | NP_116575.3:p.Val540Leu | |
| NR_037882.1:n.2373G>C (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1546G>C (RTEL1) MANE Select | NP_001269938.1:p.Val516Leu | |
| NM_016434.4:c.1546G>C (RTEL1) | NP_057518.1:p.Val516Leu | |
| NM_032957.5:c.1618G>C (RTEL1) | NP_116575.3:p.Val540Leu |