Revel Score:
ENST00000435489
0.224
ENST00000311946 (MANE Select)
0.224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471789G>T , CM000667.2:g.157471789G>T | GRCh38 |
| NC_000005.9:g.156898797G>T , CM000667.1:g.156898797G>T | GRCh37 |
| NC_000005.8:g.156831375G>T | NCBI36 |
| NG_016626.1:g.16771G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.558G>T (NIPAL4) MANE Select | ENSP00000311687.8:p.Met186Ile | |
| ENST00000435489.7:c.501G>T (NIPAL4) | ENSP00000406456.3:p.Met167Ile | |
| ENST00000311946.7:c.744G>T (NIPAL4) | ENSP00000311687.7:p.Met248Ile | |
| ENST00000435489.6:c.687G>T (NIPAL4) | ENSP00000406456.2:p.Met229Ile | |
| ENST00000517951.5:c.*1741+16476C>A (ADAM19) | ENSP00000428376.1:n.*1741+16476C>A | |
| ENST00000519150.1:c.656G>T (NIPAL4) | ENSP00000430810.1:n.656G>T | |
| NM_001099287.1:c.744G>T (NIPAL4) | NP_001092757.1:p.Met248Ile | |
| NM_001172292.1:c.687G>T (NIPAL4) | NP_001165763.1:p.Met229Ile | |
| XM_011534552.1:c.249G>T (NIPAL4) | XP_011532854.1:p.Met83Ile | |
| XM_024446043.1:c.45G>T (NIPAL4) | XP_024301811.1:p.Met15Ile | |
| NM_001099287.2:c.558G>T (NIPAL4) MANE Select | NP_001092757.2:p.Met186Ile |