gnomAD v4:
Revel Score:
ENST00000435489
0.977
ENST00000311946 (MANE Select)
0.977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471680T>C , CM000667.2:g.157471680T>C | GRCh38 |
| NC_000005.9:g.156898688T>C , CM000667.1:g.156898688T>C | GRCh37 |
| NC_000005.8:g.156831266T>C | NCBI36 |
| NG_016626.1:g.16662T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.449T>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Leu150Pro | |
| ENST00000435489.7:c.392T>C (NIPAL4) | ENSP00000406456.3:p.Leu131Pro | |
| ENST00000311946.7:c.635T>C (NIPAL4) | ENSP00000311687.7:p.Leu212Pro | |
| ENST00000435489.6:c.578T>C (NIPAL4) | ENSP00000406456.2:p.Leu193Pro | |
| ENST00000517951.5:c.*1741+16585A>G (ADAM19) | ENSP00000428376.1:n.*1741+16585A>G | |
| ENST00000519150.1:c.547T>C (NIPAL4) | ENSP00000430810.1:n.547T>C | |
| NM_001099287.1:c.635T>C (NIPAL4) | NP_001092757.1:p.Leu212Pro | |
| NM_001172292.1:c.578T>C (NIPAL4) | NP_001165763.1:p.Leu193Pro | |
| XM_011534552.1:c.140T>C (NIPAL4) | XP_011532854.1:p.Leu47Pro | |
| XM_024446043.1:c.-65T>C (NIPAL4) | XP_024301811.1:n.-65T>C | |
| NM_001099287.2:c.449T>C (NIPAL4) MANE Select | NP_001092757.2:p.Leu150Pro |