Revel Score:
ENST00000435489
0.731
ENST00000311946 (MANE Select)
0.731
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471701T>G , CM000667.2:g.157471701T>G | GRCh38 |
| NC_000005.9:g.156898709T>G , CM000667.1:g.156898709T>G | GRCh37 |
| NC_000005.8:g.156831287T>G | NCBI36 |
| NG_016626.1:g.16683T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.470T>G (NIPAL4) MANE Select | ENSP00000311687.8:p.Leu157Arg | |
| ENST00000435489.7:c.413T>G (NIPAL4) | ENSP00000406456.3:p.Leu138Arg | |
| ENST00000311946.7:c.656T>G (NIPAL4) | ENSP00000311687.7:p.Leu219Arg | |
| ENST00000435489.6:c.599T>G (NIPAL4) | ENSP00000406456.2:p.Leu200Arg | |
| ENST00000517951.5:c.*1741+16564A>C (ADAM19) | ENSP00000428376.1:n.*1741+16564A>C | |
| ENST00000519150.1:c.568T>G (NIPAL4) | ENSP00000430810.1:n.568T>G | |
| NM_001099287.1:c.656T>G (NIPAL4) | NP_001092757.1:p.Leu219Arg | |
| NM_001172292.1:c.599T>G (NIPAL4) | NP_001165763.1:p.Leu200Arg | |
| XM_011534552.1:c.161T>G (NIPAL4) | XP_011532854.1:p.Leu54Arg | |
| XM_024446043.1:c.-44T>G (NIPAL4) | XP_024301811.1:n.-44T>G | |
| NM_001099287.2:c.470T>G (NIPAL4) MANE Select | NP_001092757.2:p.Leu157Arg |