Revel Score:
ENST00000370018
0.124
ENST00000318100
0.124
ENST00000508582
0.124
ENST00000360203 (MANE Select)
0.124
ENST00000370003
0.124
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04194203 (EAS)
Genomes Max Group AF
0.03245241 (EAS)
Exomes Max Group AF
0.04271317 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63694806G>A , CM000682.2:g.63694806G>A | GRCh38 |
| NC_000020.10:g.62326159G>A , CM000682.1:g.62326159G>A | GRCh37 |
| NC_000020.9:g.61796603G>A | NCBI36 |
| NG_033901.1:g.41997G>A | |
| NG_046961.1:g.3156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697815.1:n.1922G>A (RTEL1-TNFRSF6B) | ||
| ENST00000508582.7:c.3247G>A (RTEL1) | ENSP00000424307.2:p.Ala1083Thr | |
| ENST00000318100.9:c.2506G>A (RTEL1) | ENSP00000322287.5:p.Ala836Thr | |
| ENST00000360203.11:c.3175G>A (RTEL1) MANE Select | ENSP00000353332.5:p.Ala1059Thr | |
| ENST00000496281.2:n.3186G>A (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.2506G>A (RTEL1) | ENSP00000322287.5:p.Ala836Thr | |
| ENST00000360203.9:c.3175G>A (RTEL1) | ENSP00000353332.5:p.Ala1059Thr | |
| ENST00000370003.2:c.910G>A (RTEL1) | ENSP00000359020.1:p.Ala304Thr | |
| ENST00000370018.7:c.3175G>A (RTEL1) | ENSP00000359035.3:p.Ala1059Thr | |
| ENST00000480273.5:n.3260G>A (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.3175G>A (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Ala1059Thr | |
| ENST00000492259.6:c.*777G>A (RTEL1-TNFRSF6B) | ENSP00000457428.1:n.*777G>A | |
| ENST00000496281.1:n.2657G>A (RTEL1-TNFRSF6B) | ||
| ENST00000496816.5:c.1107G>A (RTEL1) | ENSP00000425576.1:n.1107G>A | |
| ENST00000508582.6:c.3247G>A (RTEL1) | ENSP00000424307.2:p.Ala1083Thr | |
| NM_001283009.1:c.3175G>A (RTEL1) | NP_001269938.1:p.Ala1059Thr | |
| NM_001283010.1:c.2506G>A (RTEL1) | NP_001269939.1:p.Ala836Thr | |
| NM_016434.3:c.3175G>A (RTEL1) | NP_057518.1:p.Ala1059Thr | |
| NM_032957.4:c.3247G>A (RTEL1) | NP_116575.3:p.Ala1083Thr | |
| NR_037882.1:n.4002G>A (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.3175G>A (RTEL1) MANE Select | NP_001269938.1:p.Ala1059Thr | |
| NM_016434.4:c.3175G>A (RTEL1) | NP_057518.1:p.Ala1059Thr | |
| NM_032957.5:c.3247G>A (RTEL1) | NP_116575.3:p.Ala1083Thr |