Revel Score:
ENST00000435489
0.144
ENST00000311946 (MANE Select)
0.144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471784A>C , CM000667.2:g.157471784A>C | GRCh38 |
| NC_000005.9:g.156898792A>C , CM000667.1:g.156898792A>C | GRCh37 |
| NC_000005.8:g.156831370A>C | NCBI36 |
| NG_016626.1:g.16766A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.553A>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Ile185Leu | |
| ENST00000435489.7:c.496A>C (NIPAL4) | ENSP00000406456.3:p.Ile166Leu | |
| ENST00000311946.7:c.739A>C (NIPAL4) | ENSP00000311687.7:p.Ile247Leu | |
| ENST00000435489.6:c.682A>C (NIPAL4) | ENSP00000406456.2:p.Ile228Leu | |
| ENST00000517951.5:c.*1741+16481T>G (ADAM19) | ENSP00000428376.1:n.*1741+16481T>G | |
| ENST00000519150.1:c.651A>C (NIPAL4) | ENSP00000430810.1:n.651A>C | |
| NM_001099287.1:c.739A>C (NIPAL4) | NP_001092757.1:p.Ile247Leu | |
| NM_001172292.1:c.682A>C (NIPAL4) | NP_001165763.1:p.Ile228Leu | |
| XM_011534552.1:c.244A>C (NIPAL4) | XP_011532854.1:p.Ile82Leu | |
| XM_024446043.1:c.40A>C (NIPAL4) | XP_024301811.1:p.Ile14Leu | |
| NM_001099287.2:c.553A>C (NIPAL4) MANE Select | NP_001092757.2:p.Ile185Leu |