Linked Data
ClinVar Variation Id:
288113
dbSNP Id:
rs544816408
ExAC:
1:46657855 C / T
gnomAD v2:
1-46657855-C-T
gnomAD v3:
1-46192183-C-T
gnomAD v4:
1-46192183-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192183C>T , CM000663.2:g.46192183C>T | GRCh38 |
| NC_000001.10:g.46657855C>T , CM000663.1:g.46657855C>T | GRCh37 |
| NC_000001.9:g.46430442C>T | NCBI36 |
| NG_009205.2:g.33123G>A | |
| NG_009205.3:g.33123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1454G>A (POMGNT1) | ENSP00000379698.4:p.Arg485His | |
| ENST00000477114.2:n.2016G>A (POMGNT1) | ||
| ENST00000497439.6:n.1626G>A (POMGNT1) | ||
| ENST00000684817.1:n.1814G>A (POMGNT1) | ||
| ENST00000684898.1:n.2016G>A (POMGNT1) | ||
| ENST00000685230.1:c.*764G>A (POMGNT1) | ENSP00000510305.1:n.*764G>A | |
| ENST00000685275.1:n.2001G>A (POMGNT1) | ||
| ENST00000685444.1:c.1355G>A (POMGNT1) | ENSP00000510762.1:p.Arg452His | |
| ENST00000685704.1:n.2016G>A (POMGNT1) | ||
| ENST00000685775.1:n.2981G>A (POMGNT1) | ||
| ENST00000685833.1:n.2332G>A (POMGNT1) | ||
| ENST00000686252.1:n.2528G>A (POMGNT1) | ||
| ENST00000686379.1:c.*578G>A (POMGNT1) | ENSP00000508913.1:n.*578G>A | |
| ENST00000686724.1:n.1626G>A (POMGNT1) | ||
| ENST00000686737.1:c.1454G>A (POMGNT1) | ENSP00000508736.1:p.Arg485His | |
| ENST00000687112.1:n.2320G>A (POMGNT1) | ||
| ENST00000687149.1:c.1454G>A (POMGNT1) | ENSP00000509745.1:p.Arg485His | |
| ENST00000687197.1:c.*394G>A (POMGNT1) | ENSP00000510749.1:n.*394G>A | |
| ENST00000687235.1:n.2016G>A (POMGNT1) | ||
| ENST00000687613.1:n.2204G>A (POMGNT1) | ||
| ENST00000687683.1:c.1454G>A (POMGNT1) | ENSP00000508522.1:p.Arg485His | |
| ENST00000688032.1:n.2016G>A (POMGNT1) | ||
| ENST00000688596.1:n.2105G>A (POMGNT1) | ||
| ENST00000688608.1:c.1355G>A (POMGNT1) | ENSP00000508890.1:p.Arg452His | |
| ENST00000688919.1:n.2650G>A (POMGNT1) | ||
| ENST00000689031.1:n.2016G>A (POMGNT1) | ||
| ENST00000689717.1:n.1626G>A (POMGNT1) | ||
| ENST00000689756.1:c.*1086G>A (POMGNT1) | ENSP00000509023.1:n.*1086G>A | |
| ENST00000690377.1:n.1801G>A (POMGNT1) | ||
| ENST00000690678.1:c.1454G>A (POMGNT1) | ENSP00000508703.1:p.Arg485His | |
| ENST00000691209.1:c.*394G>A (POMGNT1) | ENSP00000510112.1:n.*394G>A | |
| ENST00000691243.1:c.1454G>A (POMGNT1) | ENSP00000510654.1:p.Arg485His | |
| ENST00000692169.1:n.1603G>A (POMGNT1) | ||
| ENST00000692202.1:n.2029G>A (POMGNT1) | ||
| ENST00000692322.1:c.*1306G>A (POMGNT1) | ENSP00000509017.1:n.*1306G>A | |
| ENST00000692369.1:c.1454G>A (POMGNT1) | ENSP00000508453.1:p.Arg485His | |
| ENST00000692599.1:n.2016G>A (POMGNT1) | ||
| ENST00000692635.1:c.*394G>A (POMGNT1) | ENSP00000508425.1:n.*394G>A | |
| ENST00000693168.1:n.1715G>A (POMGNT1) | ||
| ENST00000693218.1:c.1454G>A (POMGNT1) | ENSP00000510577.1:p.Arg485His | |
| ENST00000693223.1:n.2402G>A (POMGNT1) | ||
| ENST00000693365.1:n.4088G>A (POMGNT1) | ||
| ENST00000371984.8:c.1454G>A (POMGNT1) MANE Select | ENSP00000361052.3:p.Arg485His | |
| ENST00000371984.7:c.1454G>A (POMGNT1) | ENSP00000361052.3:p.Arg485His | |
| ENST00000371992.1:c.1454G>A (POMGNT1) | ENSP00000361060.1:p.Arg485His | |
| ENST00000396420.7:c.*1123G>A (POMGNT1) | ENSP00000379698.3:n.*1123G>A | |
| ENST00000463030.1:n.75G>A (POMGNT1) | ||
| ENST00000485714.1:n.840G>A (POMGNT1) | ||
| NM_001243766.1:c.1454G>A (POMGNT1) | NP_001230695.1:p.Arg485His | |
| NM_001290129.1:c.1388G>A (POMGNT1) | NP_001277058.1:p.Arg463His | |
| NM_001290130.1:c.1025G>A (POMGNT1) | NP_001277059.1:p.Arg342His | |
| NM_017739.3:c.1454G>A (POMGNT1) | NP_060209.3:p.Arg485His | |
| XM_005271010.1:c.1454G>A (POMGNT1) | XP_005271067.1:p.Arg485His | |
| XM_006710755.1:c.1454G>A (POMGNT1) | XP_006710818.1:p.Arg485His | |
| XM_006710756.1:c.1454G>A (POMGNT1) | XP_006710819.1:p.Arg485His | |
| XM_011540460.1:c.679-4019C>T (TSPAN1) | XP_011538762.1:n.679-4019C>T | |
| XM_011540461.1:c.634-4019C>T (TSPAN1) | XP_011538763.1:n.634-4019C>T | |
| XM_011541759.1:c.1388G>A (POMGNT1) | XP_011540061.1:p.Arg463His | |
| XM_011541760.1:c.1388G>A (POMGNT1) | XP_011540062.1:p.Arg463His | |
| XM_011541761.1:c.362G>A (POMGNT1) | XP_011540063.1:p.Arg121His | |
| XR_946706.1:n.1614G>A (POMGNT1) | ||
| XM_011540460.3:c.679-4019C>T (TSPAN1) | XP_011538762.1:n.679-4019C>T | |
| XM_011541760.3:c.1388G>A (POMGNT1) | XP_011540062.1:p.Arg463His | |
| XM_017001690.1:c.1454G>A (POMGNT1) | XP_016857179.1:p.Arg485His | |
| NM_001243766.2:c.1454G>A (POMGNT1) | NP_001230695.2:p.Arg485His | |
| NM_001290129.2:c.1388G>A (POMGNT1) | NP_001277058.2:p.Arg463His | |
| NM_001290130.2:c.1025G>A (POMGNT1) | NP_001277059.2:p.Arg342His | |
| NM_017739.4:c.1454G>A (POMGNT1) MANE Select | NP_060209.4:p.Arg485His |