Revel Score:
ENST00000435489
0.794
ENST00000311946 (MANE Select)
0.794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471701T>C , CM000667.2:g.157471701T>C | GRCh38 |
| NC_000005.9:g.156898709T>C , CM000667.1:g.156898709T>C | GRCh37 |
| NC_000005.8:g.156831287T>C | NCBI36 |
| NG_016626.1:g.16683T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.470T>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Leu157Pro | |
| ENST00000435489.7:c.413T>C (NIPAL4) | ENSP00000406456.3:p.Leu138Pro | |
| ENST00000311946.7:c.656T>C (NIPAL4) | ENSP00000311687.7:p.Leu219Pro | |
| ENST00000435489.6:c.599T>C (NIPAL4) | ENSP00000406456.2:p.Leu200Pro | |
| ENST00000517951.5:c.*1741+16564A>G (ADAM19) | ENSP00000428376.1:n.*1741+16564A>G | |
| ENST00000519150.1:c.568T>C (NIPAL4) | ENSP00000430810.1:n.568T>C | |
| NM_001099287.1:c.656T>C (NIPAL4) | NP_001092757.1:p.Leu219Pro | |
| NM_001172292.1:c.599T>C (NIPAL4) | NP_001165763.1:p.Leu200Pro | |
| XM_011534552.1:c.161T>C (NIPAL4) | XP_011532854.1:p.Leu54Pro | |
| XM_024446043.1:c.-44T>C (NIPAL4) | XP_024301811.1:n.-44T>C | |
| NM_001099287.2:c.470T>C (NIPAL4) MANE Select | NP_001092757.2:p.Leu157Pro |