gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000876 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46190711A>C , CM000663.2:g.46190711A>C | GRCh38 |
| NC_000001.10:g.46656383A>C , CM000663.1:g.46656383A>C | GRCh37 |
| NC_000001.9:g.46428970A>C | NCBI36 |
| NG_009205.2:g.34595T>G | |
| NG_009205.3:g.34595T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1604+9T>G (POMGNT1) | ENSP00000379698.4:n.1604+9T>G | |
| ENST00000477114.2:n.2166+9T>G (POMGNT1) | ||
| ENST00000497439.6:n.1776+9T>G (POMGNT1) | ||
| ENST00000684817.1:n.1964+9T>G (POMGNT1) | ||
| ENST00000684898.1:n.2166+9T>G (POMGNT1) | ||
| ENST00000685230.1:c.*914+9T>G (POMGNT1) | ENSP00000510305.1:n.*914+9T>G | |
| ENST00000685275.1:n.2151+9T>G (POMGNT1) | ||
| ENST00000685444.1:c.1505+9T>G (POMGNT1) | ENSP00000510762.1:n.1505+9T>G | |
| ENST00000685704.1:n.2166+9T>G (POMGNT1) | ||
| ENST00000685775.1:n.4453T>G (POMGNT1) | ||
| ENST00000685833.1:n.3804T>G (POMGNT1) | ||
| ENST00000686252.1:n.2678+9T>G (POMGNT1) | ||
| ENST00000686379.1:c.*728+9T>G (POMGNT1) | ENSP00000508913.1:n.*728+9T>G | |
| ENST00000686724.1:n.3098T>G (POMGNT1) | ||
| ENST00000686737.1:c.1604+9T>G (POMGNT1) | ENSP00000508736.1:n.1604+9T>G | |
| ENST00000687112.1:n.2470+9T>G (POMGNT1) | ||
| ENST00000687149.1:c.1540-90T>G (POMGNT1) | ENSP00000509745.1:n.1540-90T>G | |
| ENST00000687197.1:c.*544+9T>G (POMGNT1) | ENSP00000510749.1:n.*544+9T>G | |
| ENST00000687235.1:n.3488T>G (POMGNT1) | ||
| ENST00000687613.1:n.2290-722T>G (POMGNT1) | ||
| ENST00000687683.1:c.1604+9T>G (POMGNT1) | ENSP00000508522.1:n.1604+9T>G | |
| ENST00000688032.1:n.2141+34T>G (POMGNT1) | ||
| ENST00000688596.1:n.2255+9T>G (POMGNT1) | ||
| ENST00000688608.1:c.1505+9T>G (POMGNT1) | ENSP00000508890.1:n.1505+9T>G | |
| ENST00000688919.1:n.2809T>G (POMGNT1) | ||
| ENST00000689031.1:n.2102-722T>G (POMGNT1) | ||
| ENST00000689717.1:n.1785T>G (POMGNT1) | ||
| ENST00000689756.1:c.*1236+9T>G (POMGNT1) | ENSP00000509023.1:n.*1236+9T>G | |
| ENST00000690377.1:n.1951+9T>G (POMGNT1) | ||
| ENST00000690678.1:c.1604+9T>G (POMGNT1) | ENSP00000508703.1:n.1604+9T>G | |
| ENST00000691209.1:c.*544+9T>G (POMGNT1) | ENSP00000510112.1:n.*544+9T>G | |
| ENST00000691243.1:c.1579+34T>G (POMGNT1) | ENSP00000510654.1:n.1579+34T>G | |
| ENST00000692169.1:n.3075T>G (POMGNT1) | ||
| ENST00000692202.1:n.2179+9T>G (POMGNT1) | ||
| ENST00000692322.1:c.*1392-194T>G (POMGNT1) | ENSP00000509017.1:n.*1392-194T>G | |
| ENST00000692369.1:c.1604+9T>G (POMGNT1) | ENSP00000508453.1:n.1604+9T>G | |
| ENST00000692599.1:n.3479+9T>G (POMGNT1) | ||
| ENST00000692635.1:c.*480-194T>G (POMGNT1) | ENSP00000508425.1:n.*480-194T>G | |
| ENST00000693168.1:n.3187T>G (POMGNT1) | ||
| ENST00000693218.1:c.1613T>G (POMGNT1) | ENSP00000510577.1:p.Leu538Arg | |
| ENST00000693223.1:n.2552+9T>G (POMGNT1) | ||
| ENST00000693365.1:n.5560T>G (POMGNT1) | ||
| ENST00000371984.8:c.1604+9T>G (POMGNT1) MANE Select | ENSP00000361052.3:n.1604+9T>G | |
| ENST00000371984.7:c.1604+9T>G (POMGNT1) | ENSP00000361052.3:n.1604+9T>G | |
| ENST00000371992.1:c.1604+9T>G (POMGNT1) | ENSP00000361060.1:n.1604+9T>G | |
| ENST00000396420.7:c.*1273+9T>G (POMGNT1) | ENSP00000379698.3:n.*1273+9T>G | |
| ENST00000480972.1:n.253+9T>G (POMGNT1) | ||
| ENST00000485714.1:n.2312T>G (POMGNT1) | ||
| NM_001243766.1:c.1604+9T>G (POMGNT1) | NP_001230695.1:n.1604+9T>G | |
| NM_001290129.1:c.1538+9T>G (POMGNT1) | NP_001277058.1:n.1538+9T>G | |
| NM_001290130.1:c.1175+9T>G (POMGNT1) | NP_001277059.1:n.1175+9T>G | |
| NM_017739.3:c.1604+9T>G (POMGNT1) | NP_060209.3:n.1604+9T>G | |
| XM_005271010.1:c.1604+9T>G (POMGNT1) | XP_005271067.1:n.1604+9T>G | |
| XM_006710755.1:c.1604+9T>G (POMGNT1) | XP_006710818.1:n.1604+9T>G | |
| XM_006710756.1:c.1604+9T>G (POMGNT1) | XP_006710819.1:n.1604+9T>G | |
| XM_011540460.1:c.678+5403A>C (TSPAN1) | XP_011538762.1:n.678+5403A>C | |
| XM_011540461.1:c.633+5403A>C (TSPAN1) | XP_011538763.1:n.633+5403A>C | |
| XM_011541759.1:c.1538+9T>G (POMGNT1) | XP_011540061.1:n.1538+9T>G | |
| XM_011541760.1:c.1538+9T>G (POMGNT1) | XP_011540062.1:n.1538+9T>G | |
| XM_011541761.1:c.512+9T>G (POMGNT1) | XP_011540063.1:n.512+9T>G | |
| XM_011540460.3:c.678+5403A>C (TSPAN1) | XP_011538762.1:n.678+5403A>C | |
| XM_011541760.3:c.1538+9T>G (POMGNT1) | XP_011540062.1:n.1538+9T>G | |
| XM_017001690.1:c.1604+9T>G (POMGNT1) | XP_016857179.1:n.1604+9T>G | |
| NM_001243766.2:c.1604+9T>G (POMGNT1) | NP_001230695.2:n.1604+9T>G | |
| NM_001290129.2:c.1538+9T>G (POMGNT1) | NP_001277058.2:n.1538+9T>G | |
| NM_001290130.2:c.1175+9T>G (POMGNT1) | NP_001277059.2:n.1175+9T>G | |
| NM_017739.4:c.1604+9T>G (POMGNT1) MANE Select | NP_060209.4:n.1604+9T>G |