Revel Score:
ENST00000371984 (MANE Select)
0.587
ENST00000371992
0.587
ENST00000535522
0.587
ENST00000371986
0.587
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005802 (MID)
Genomes Max Group AF
0.00005842 (NFE)
Exomes Max Group AF
0.00006096 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189528G>A , CM000663.2:g.46189528G>A | GRCh38 |
| NC_000001.10:g.46655200G>A , CM000663.1:g.46655200G>A | GRCh37 |
| NC_000001.9:g.46427787G>A | NCBI36 |
| NG_009205.2:g.35778C>T | |
| NG_009205.3:g.35778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1825C>T (POMGNT1) | ENSP00000379698.4:p.Arg609Trp | |
| ENST00000497439.6:n.1997C>T (POMGNT1) | ||
| ENST00000684817.1:n.2185C>T (POMGNT1) | ||
| ENST00000684898.1:n.2387C>T (POMGNT1) | ||
| ENST00000685230.1:c.*1135C>T (POMGNT1) | ENSP00000510305.1:n.*1135C>T | |
| ENST00000685275.1:n.2372C>T (POMGNT1) | ||
| ENST00000685444.1:c.1726C>T (POMGNT1) | ENSP00000510762.1:p.Arg576Trp | |
| ENST00000685704.1:n.2491C>T (POMGNT1) | ||
| ENST00000685833.1:n.4218C>T (POMGNT1) | ||
| ENST00000686252.1:n.2899C>T (POMGNT1) | ||
| ENST00000686379.1:c.*949C>T (POMGNT1) | ENSP00000508913.1:n.*949C>T | |
| ENST00000686724.1:n.3512C>T (POMGNT1) | ||
| ENST00000686737.1:c.1825C>T (POMGNT1) | ENSP00000508736.1:p.Arg609Trp | |
| ENST00000687112.1:n.2691C>T (POMGNT1) | ||
| ENST00000687149.1:c.1864C>T (POMGNT1) | ENSP00000509745.1:p.Arg622Trp | |
| ENST00000687197.1:c.*765C>T (POMGNT1) | ENSP00000510749.1:n.*765C>T | |
| ENST00000687235.1:n.3902C>T (POMGNT1) | ||
| ENST00000687613.1:n.2465C>T (POMGNT1) | ||
| ENST00000687683.1:c.1825C>T (POMGNT1) | ENSP00000508522.1:p.Arg609Trp | |
| ENST00000688032.1:n.2362C>T (POMGNT1) | ||
| ENST00000688596.1:n.2476C>T (POMGNT1) | ||
| ENST00000688608.1:c.1726C>T (POMGNT1) | ENSP00000508890.1:p.Arg576Trp | |
| ENST00000689031.1:n.2277C>T (POMGNT1) | ||
| ENST00000689756.1:c.*1457C>T (POMGNT1) | ENSP00000509023.1:n.*1457C>T | |
| ENST00000690377.1:n.2172C>T (POMGNT1) | ||
| ENST00000690678.1:c.1825C>T (POMGNT1) | ENSP00000508703.1:p.Arg609Trp | |
| ENST00000691185.1:n.296C>T (POMGNT1) | ||
| ENST00000691209.1:c.*765C>T (POMGNT1) | ENSP00000510112.1:n.*765C>T | |
| ENST00000691243.1:c.*216C>T (POMGNT1) | ENSP00000510654.1:n.*216C>T | |
| ENST00000692202.1:n.2400C>T (POMGNT1) | ||
| ENST00000692322.1:c.*1612C>T (POMGNT1) | ENSP00000509017.1:n.*1612C>T | |
| ENST00000692369.1:c.1825C>T (POMGNT1) | ENSP00000508453.1:p.Arg609Trp | |
| ENST00000692599.1:n.3700C>T (POMGNT1) | ||
| ENST00000692635.1:c.*700C>T (POMGNT1) | ENSP00000508425.1:n.*700C>T | |
| ENST00000693168.1:n.3601C>T (POMGNT1) | ||
| ENST00000693218.1:c.*386C>T (POMGNT1) | ENSP00000510577.1:n.*386C>T | |
| ENST00000693223.1:n.2773C>T (POMGNT1) | ||
| ENST00000371984.8:c.1825C>T (POMGNT1) MANE Select | ENSP00000361052.3:p.Arg609Trp | |
| ENST00000371984.7:c.1825C>T (POMGNT1) | ENSP00000361052.3:p.Arg609Trp | |
| ENST00000371992.1:c.1825C>T (POMGNT1) | ENSP00000361060.1:p.Arg609Trp | |
| ENST00000396420.7:c.*1494C>T (POMGNT1) | ENSP00000379698.3:n.*1494C>T | |
| ENST00000475642.1:n.40C>T (POMGNT1) | ||
| ENST00000480972.1:n.474C>T (POMGNT1) | ||
| NM_001243766.1:c.1825C>T (POMGNT1) | NP_001230695.1:p.Arg609Trp | |
| NM_001290129.1:c.1759C>T (POMGNT1) | NP_001277058.1:p.Arg587Trp | |
| NM_001290130.1:c.1396C>T (POMGNT1) | NP_001277059.1:p.Arg466Trp | |
| NM_017739.3:c.1825C>T (POMGNT1) | NP_060209.3:p.Arg609Trp | |
| XM_005271010.1:c.1825C>T (POMGNT1) | XP_005271067.1:p.Arg609Trp | |
| XM_006710755.1:c.1825C>T (POMGNT1) | XP_006710818.1:p.Arg609Trp | |
| XM_006710756.1:c.1825C>T (POMGNT1) | XP_006710819.1:p.Arg609Trp | |
| XM_011540460.1:c.678+4220G>A (TSPAN1) | XP_011538762.1:n.678+4220G>A | |
| XM_011540461.1:c.633+4220G>A (TSPAN1) | XP_011538763.1:n.633+4220G>A | |
| XM_011541759.1:c.1759C>T (POMGNT1) | XP_011540061.1:p.Arg587Trp | |
| XM_011541760.1:c.1759C>T (POMGNT1) | XP_011540062.1:p.Arg587Trp | |
| XM_011541761.1:c.733C>T (POMGNT1) | XP_011540063.1:p.Arg245Trp | |
| XM_011540460.3:c.678+4220G>A (TSPAN1) | XP_011538762.1:n.678+4220G>A | |
| XM_011541760.3:c.1759C>T (POMGNT1) | XP_011540062.1:p.Arg587Trp | |
| XM_017001690.1:c.1825C>T (POMGNT1) | XP_016857179.1:p.Arg609Trp | |
| NM_001243766.2:c.1825C>T (POMGNT1) | NP_001230695.2:p.Arg609Trp | |
| NM_001290129.2:c.1759C>T (POMGNT1) | NP_001277058.2:p.Arg587Trp | |
| NM_001290130.2:c.1396C>T (POMGNT1) | NP_001277059.2:p.Arg466Trp | |
| NM_017739.4:c.1825C>T (POMGNT1) MANE Select | NP_060209.4:p.Arg609Trp |