Revel Score:
ENST00000370018
0.563
ENST00000318100
0.563
ENST00000508582
0.563
ENST00000360203 (MANE Select)
0.563
ENST00000425905
0.563
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63689115G>T , CM000682.2:g.63689115G>T | GRCh38 |
| NC_000020.10:g.62320468G>T , CM000682.1:g.62320468G>T | GRCh37 |
| NC_000020.9:g.61790912G>T | NCBI36 |
| NG_033901.1:g.36306G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425905.7:n.1535G>T (RTEL1) | ||
| ENST00000425905.6:c.1535G>T (RTEL1) | ||
| ENST00000697814.1:n.51G>T (RTEL1) | ||
| ENST00000508582.7:c.1933G>T (RTEL1) | ENSP00000424307.2:p.Ala645Ser | |
| ENST00000687123.1:n.1691G>T (RTEL1) | ||
| ENST00000318100.9:c.1192G>T (RTEL1) | ENSP00000322287.5:p.Ala398Ser | |
| ENST00000360203.11:c.1861G>T (RTEL1) MANE Select | ENSP00000353332.5:p.Ala621Ser | |
| ENST00000482936.6:c.1861G>T (RTEL1) | ENSP00000457868.2:p.Ala621Ser | |
| ENST00000496281.2:n.684G>T (RTEL1-TNFRSF6B) | ||
| ENST00000318100.8:c.1192G>T (RTEL1) | ENSP00000322287.5:p.Ala398Ser | |
| ENST00000360203.9:c.1861G>T (RTEL1) | ENSP00000353332.5:p.Ala621Ser | |
| ENST00000370018.7:c.1861G>T (RTEL1) | ENSP00000359035.3:p.Ala621Ser | |
| ENST00000425905.5:c.187G>T (RTEL1) | ENSP00000388063.1:p.Ala63Ser | |
| ENST00000480273.5:n.1946G>T (RTEL1-TNFRSF6B) | ||
| ENST00000482936.5:c.1861G>T (RTEL1-TNFRSF6B) | ENSP00000457868.1:p.Ala621Ser | |
| ENST00000492259.6:c.1945G>T (RTEL1-TNFRSF6B) | ENSP00000457428.1:p.Ala649Ser | |
| ENST00000496281.1:n.155G>T (RTEL1-TNFRSF6B) | ||
| ENST00000508582.6:c.1933G>T (RTEL1) | ENSP00000424307.2:p.Ala645Ser | |
| NM_001283009.1:c.1861G>T (RTEL1) | NP_001269938.1:p.Ala621Ser | |
| NM_001283010.1:c.1192G>T (RTEL1) | NP_001269939.1:p.Ala398Ser | |
| NM_016434.3:c.1861G>T (RTEL1) | NP_057518.1:p.Ala621Ser | |
| NM_032957.4:c.1933G>T (RTEL1) | NP_116575.3:p.Ala645Ser | |
| NR_037882.1:n.2688G>T (RTEL1-TNFRSF6B) | ||
| NM_001283009.2:c.1861G>T (RTEL1) MANE Select | NP_001269938.1:p.Ala621Ser | |
| NM_016434.4:c.1861G>T (RTEL1) | NP_057518.1:p.Ala621Ser | |
| NM_032957.5:c.1933G>T (RTEL1) | NP_116575.3:p.Ala645Ser |