Revel Score:
ENST00000435489
0.465
ENST00000311946 (MANE Select)
0.465
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471775G>C , CM000667.2:g.157471775G>C | GRCh38 |
| NC_000005.9:g.156898783G>C , CM000667.1:g.156898783G>C | GRCh37 |
| NC_000005.8:g.156831361G>C | NCBI36 |
| NG_016626.1:g.16757G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.544G>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Val182Leu | |
| ENST00000435489.7:c.487G>C (NIPAL4) | ENSP00000406456.3:p.Val163Leu | |
| ENST00000311946.7:c.730G>C (NIPAL4) | ENSP00000311687.7:p.Val244Leu | |
| ENST00000435489.6:c.673G>C (NIPAL4) | ENSP00000406456.2:p.Val225Leu | |
| ENST00000517951.5:c.*1741+16490C>G (ADAM19) | ENSP00000428376.1:n.*1741+16490C>G | |
| ENST00000519150.1:c.642G>C (NIPAL4) | ENSP00000430810.1:n.642G>C | |
| NM_001099287.1:c.730G>C (NIPAL4) | NP_001092757.1:p.Val244Leu | |
| NM_001172292.1:c.673G>C (NIPAL4) | NP_001165763.1:p.Val225Leu | |
| XM_011534552.1:c.235G>C (NIPAL4) | XP_011532854.1:p.Val79Leu | |
| XM_024446043.1:c.31G>C (NIPAL4) | XP_024301811.1:p.Val11Leu | |
| NM_001099287.2:c.544G>C (NIPAL4) MANE Select | NP_001092757.2:p.Val182Leu |