Revel Score:
ENST00000435489
0.546
ENST00000311946 (MANE Select)
0.546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471700C>G , CM000667.2:g.157471700C>G | GRCh38 |
| NC_000005.9:g.156898708C>G , CM000667.1:g.156898708C>G | GRCh37 |
| NC_000005.8:g.156831286C>G | NCBI36 |
| NG_016626.1:g.16682C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.469C>G (NIPAL4) MANE Select | ENSP00000311687.8:p.Leu157Val | |
| ENST00000435489.7:c.412C>G (NIPAL4) | ENSP00000406456.3:p.Leu138Val | |
| ENST00000311946.7:c.655C>G (NIPAL4) | ENSP00000311687.7:p.Leu219Val | |
| ENST00000435489.6:c.598C>G (NIPAL4) | ENSP00000406456.2:p.Leu200Val | |
| ENST00000517951.5:c.*1741+16565G>C (ADAM19) | ENSP00000428376.1:n.*1741+16565G>C | |
| ENST00000519150.1:c.567C>G (NIPAL4) | ENSP00000430810.1:n.567C>G | |
| NM_001099287.1:c.655C>G (NIPAL4) | NP_001092757.1:p.Leu219Val | |
| NM_001172292.1:c.598C>G (NIPAL4) | NP_001165763.1:p.Leu200Val | |
| XM_011534552.1:c.160C>G (NIPAL4) | XP_011532854.1:p.Leu54Val | |
| XM_024446043.1:c.-45C>G (NIPAL4) | XP_024301811.1:n.-45C>G | |
| NM_001099287.2:c.469C>G (NIPAL4) MANE Select | NP_001092757.2:p.Leu157Val |