Revel Score:
ENST00000379984 (MANE Select)
0.957
gnomAD v4:
Joint Max Group AF
0.00000241 (NFE)
Exomes Max Group AF
0.00000256 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18647231A>G , CM000685.2:g.18647231A>G | GRCh38 |
| NC_000023.10:g.18665351A>G , CM000685.1:g.18665351A>G | GRCh37 |
| NC_000023.9:g.18575272A>G | NCBI36 |
| NG_008475.1:g.226627A>G | |
| NG_008659.3:g.35218T>C , LRG_702:g.35218T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.286T>C (RS1) MANE Select | ENSP00000369320.3:p.Trp96Arg | |
| ENST00000379984.3:c.286T>C (RS1) | ENSP00000369320.3:p.Trp96Arg | |
| ENST00000379989.6:c.2797+1141A>G (CDKL5) | ENSP00000369325.3:n.2797+1141A>G | |
| ENST00000379996.7:c.2797+1141A>G (CDKL5) | ENSP00000369332.3:n.2797+1141A>G | |
| ENST00000476595.1:n.777T>C (RS1) | ||
| NM_000330.3:c.286T>C , LRG_702t1:c.286T>C (RS1) | NP_000321.1:p.Trp96Arg | |
| NM_001037343.1:c.2797+1141A>G (CDKL5) | NP_001032420.1:n.2797+1141A>G | |
| NM_003159.2:c.2797+1141A>G (CDKL5) | NP_003150.1:n.2797+1141A>G | |
| XM_011545569.1:c.2869+1141A>G (CDKL5) | XP_011543871.1:n.2869+1141A>G | |
| XM_011545570.1:c.2788+1141A>G (CDKL5) | XP_011543872.1:n.2788+1141A>G | |
| XR_950484.1:n.3172+1141A>G (CDKL5) | ||
| NM_000330.4:c.286T>C (RS1) MANE Select | NP_000321.1:p.Trp96Arg | |
| NM_001037343.2:c.2797+1141A>G (CDKL5) | NP_001032420.1:n.2797+1141A>G | |
| NM_003159.3:c.2797+1141A>G (CDKL5) | NP_003150.1:n.2797+1141A>G |