Revel Score:
ENST00000371992
0.260
ENST00000371986
0.260
ENST00000371984 (MANE Select)
0.396
ENST00000535522
0.396
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189347G>A , CM000663.2:g.46189347G>A | GRCh38 |
| NC_000001.10:g.46655019G>A , CM000663.1:g.46655019G>A | GRCh37 |
| NC_000001.9:g.46427606G>A | NCBI36 |
| NG_009205.2:g.35959C>T | |
| NG_009205.3:g.35959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1906C>T (POMGNT1) | ENSP00000379698.4:p.Pro636Ser | |
| ENST00000497439.6:n.2078C>T (POMGNT1) | ||
| ENST00000684817.1:n.2266C>T (POMGNT1) | ||
| ENST00000684898.1:n.2568C>T (POMGNT1) | ||
| ENST00000685230.1:c.*1216C>T (POMGNT1) | ENSP00000510305.1:n.*1216C>T | |
| ENST00000685275.1:n.2453C>T (POMGNT1) | ||
| ENST00000685444.1:c.1807C>T (POMGNT1) | ENSP00000510762.1:p.Pro603Ser | |
| ENST00000685704.1:n.2572C>T (POMGNT1) | ||
| ENST00000685833.1:n.4299C>T (POMGNT1) | ||
| ENST00000686252.1:n.2980C>T (POMGNT1) | ||
| ENST00000686379.1:c.*1030C>T (POMGNT1) | ENSP00000508913.1:n.*1030C>T | |
| ENST00000686724.1:n.3593C>T (POMGNT1) | ||
| ENST00000686737.1:c.1906C>T (POMGNT1) | ENSP00000508736.1:p.Pro636Ser | |
| ENST00000687112.1:n.2772C>T (POMGNT1) | ||
| ENST00000687149.1:c.1945C>T (POMGNT1) | ENSP00000509745.1:p.Pro649Ser | |
| ENST00000687197.1:c.*835+111C>T (POMGNT1) | ENSP00000510749.1:n.*835+111C>T | |
| ENST00000687235.1:n.3983C>T (POMGNT1) | ||
| ENST00000687613.1:n.2546C>T (POMGNT1) | ||
| ENST00000687683.1:c.1906C>T (POMGNT1) | ENSP00000508522.1:p.Pro636Ser | |
| ENST00000688032.1:n.2443C>T (POMGNT1) | ||
| ENST00000688596.1:n.2557C>T (POMGNT1) | ||
| ENST00000688608.1:c.1807C>T (POMGNT1) | ENSP00000508890.1:p.Pro603Ser | |
| ENST00000689031.1:n.2347+111C>T (POMGNT1) | ||
| ENST00000689756.1:c.*1538C>T (POMGNT1) | ENSP00000509023.1:n.*1538C>T | |
| ENST00000690377.1:n.2253C>T (POMGNT1) | ||
| ENST00000690678.1:c.1906C>T (POMGNT1) | ENSP00000508703.1:p.Pro636Ser | |
| ENST00000691185.1:n.377C>T (POMGNT1) | ||
| ENST00000691209.1:c.*846C>T (POMGNT1) | ENSP00000510112.1:n.*846C>T | |
| ENST00000691243.1:c.*297C>T (POMGNT1) | ENSP00000510654.1:n.*297C>T | |
| ENST00000692202.1:n.2481C>T (POMGNT1) | ||
| ENST00000692322.1:c.*1793C>T (POMGNT1) | ENSP00000509017.1:n.*1793C>T | |
| ENST00000692369.1:c.1895+111C>T (POMGNT1) | ENSP00000508453.1:n.1895+111C>T | |
| ENST00000692599.1:n.3781C>T (POMGNT1) | ||
| ENST00000692635.1:c.*781C>T (POMGNT1) | ENSP00000508425.1:n.*781C>T | |
| ENST00000693168.1:n.3682C>T (POMGNT1) | ||
| ENST00000693218.1:c.*467C>T (POMGNT1) | ENSP00000510577.1:n.*467C>T | |
| ENST00000693223.1:n.2854C>T (POMGNT1) | ||
| ENST00000371984.8:c.1906C>T (POMGNT1) MANE Select | ENSP00000361052.3:p.Pro636Ser | |
| ENST00000371984.7:c.1906C>T (POMGNT1) | ENSP00000361052.3:p.Pro636Ser | |
| ENST00000371992.1:c.1880C>T (POMGNT1) | ENSP00000361060.1:p.Ala627Val | |
| ENST00000396420.7:c.*1575C>T (POMGNT1) | ENSP00000379698.3:n.*1575C>T | |
| ENST00000475642.1:n.110+111C>T (POMGNT1) | ||
| NM_001243766.1:c.1880C>T (POMGNT1) | NP_001230695.1:p.Ala627Val | |
| NM_001290129.1:c.1840C>T (POMGNT1) | NP_001277058.1:p.Pro614Ser | |
| NM_001290130.1:c.1477C>T (POMGNT1) | NP_001277059.1:p.Pro493Ser | |
| NM_017739.3:c.1906C>T (POMGNT1) | NP_060209.3:p.Pro636Ser | |
| XM_005271010.1:c.1895+111C>T (POMGNT1) | XP_005271067.1:n.1895+111C>T | |
| XM_006710755.1:c.1895+111C>T (POMGNT1) | XP_006710818.1:n.1895+111C>T | |
| XM_006710756.1:c.1880C>T (POMGNT1) | XP_006710819.1:p.Ala627Val | |
| XM_011540460.1:c.678+4039G>A (TSPAN1) | XP_011538762.1:n.678+4039G>A | |
| XM_011540461.1:c.633+4039G>A (TSPAN1) | XP_011538763.1:n.633+4039G>A | |
| XM_011541759.1:c.1829+111C>T (POMGNT1) | XP_011540061.1:n.1829+111C>T | |
| XM_011541760.1:c.1840C>T (POMGNT1) | XP_011540062.1:p.Pro614Ser | |
| XM_011541761.1:c.803+111C>T (POMGNT1) | XP_011540063.1:n.803+111C>T | |
| XM_011540460.3:c.678+4039G>A (TSPAN1) | XP_011538762.1:n.678+4039G>A | |
| XM_011541760.3:c.1840C>T (POMGNT1) | XP_011540062.1:p.Pro614Ser | |
| XM_017001690.1:c.1906C>T (POMGNT1) | XP_016857179.1:p.Pro636Ser | |
| NM_001243766.2:c.1880C>T (POMGNT1) | NP_001230695.2:p.Ala627Val | |
| NM_001290129.2:c.1840C>T (POMGNT1) | NP_001277058.2:p.Pro614Ser | |
| NM_001290130.2:c.1477C>T (POMGNT1) | NP_001277059.2:p.Pro493Ser | |
| NM_017739.4:c.1906C>T (POMGNT1) MANE Select | NP_060209.4:p.Pro636Ser |