UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192389C>A , CM000663.2:g.46192389C>A | GRCh38 |
| NC_000001.10:g.46658061C>A , CM000663.1:g.46658061C>A | GRCh37 |
| NC_000001.9:g.46430648C>A | NCBI36 |
| NG_009205.2:g.32917G>T | |
| NG_009205.3:g.32917G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396420.8:c.1332G>T (POMGNT1) | ENSP00000379698.4:p.Glu444Asp | |
| ENST00000477114.2:n.1894G>T (POMGNT1) | ||
| ENST00000497439.6:n.1504G>T (POMGNT1) | ||
| ENST00000684817.1:n.1692G>T (POMGNT1) | ||
| ENST00000684898.1:n.1894G>T (POMGNT1) | ||
| ENST00000685230.1:c.*642G>T (POMGNT1) | ENSP00000510305.1:n.*642G>T | |
| ENST00000685275.1:n.1879G>T (POMGNT1) | ||
| ENST00000685444.1:c.1233G>T (POMGNT1) | ENSP00000510762.1:p.Glu411Asp | |
| ENST00000685704.1:n.1894G>T (POMGNT1) | ||
| ENST00000685775.1:n.2859G>T (POMGNT1) | ||
| ENST00000685833.1:n.2210G>T (POMGNT1) | ||
| ENST00000686252.1:n.2406G>T (POMGNT1) | ||
| ENST00000686379.1:c.*456G>T (POMGNT1) | ENSP00000508913.1:n.*456G>T | |
| ENST00000686724.1:n.1504G>T (POMGNT1) | ||
| ENST00000686737.1:c.1332G>T (POMGNT1) | ENSP00000508736.1:p.Glu444Asp | |
| ENST00000687112.1:n.2198G>T (POMGNT1) | ||
| ENST00000687149.1:c.1332G>T (POMGNT1) | ENSP00000509745.1:p.Glu444Asp | |
| ENST00000687197.1:c.*272G>T (POMGNT1) | ENSP00000510749.1:n.*272G>T | |
| ENST00000687235.1:n.1894G>T (POMGNT1) | ||
| ENST00000687613.1:n.2082G>T (POMGNT1) | ||
| ENST00000687683.1:c.1332G>T (POMGNT1) | ENSP00000508522.1:p.Glu444Asp | |
| ENST00000688032.1:n.1894G>T (POMGNT1) | ||
| ENST00000688596.1:n.1983G>T (POMGNT1) | ||
| ENST00000688608.1:c.1233G>T (POMGNT1) | ENSP00000508890.1:p.Glu411Asp | |
| ENST00000688919.1:n.2528G>T (POMGNT1) | ||
| ENST00000689031.1:n.1894G>T (POMGNT1) | ||
| ENST00000689717.1:n.1504G>T (POMGNT1) | ||
| ENST00000689756.1:c.*964G>T (POMGNT1) | ENSP00000509023.1:n.*964G>T | |
| ENST00000690377.1:n.1679G>T (POMGNT1) | ||
| ENST00000690678.1:c.1332G>T (POMGNT1) | ENSP00000508703.1:p.Glu444Asp | |
| ENST00000691209.1:c.*272G>T (POMGNT1) | ENSP00000510112.1:n.*272G>T | |
| ENST00000691243.1:c.1332G>T (POMGNT1) | ENSP00000510654.1:p.Glu444Asp | |
| ENST00000692169.1:n.1481G>T (POMGNT1) | ||
| ENST00000692202.1:n.1907G>T (POMGNT1) | ||
| ENST00000692322.1:c.*1184G>T (POMGNT1) | ENSP00000509017.1:n.*1184G>T | |
| ENST00000692369.1:c.1332G>T (POMGNT1) | ENSP00000508453.1:p.Glu444Asp | |
| ENST00000692599.1:n.1894G>T (POMGNT1) | ||
| ENST00000692635.1:c.*272G>T (POMGNT1) | ENSP00000508425.1:n.*272G>T | |
| ENST00000693168.1:n.1593G>T (POMGNT1) | ||
| ENST00000693218.1:c.1332G>T (POMGNT1) | ENSP00000510577.1:p.Glu444Asp | |
| ENST00000693223.1:n.2280G>T (POMGNT1) | ||
| ENST00000693365.1:n.3966G>T (POMGNT1) | ||
| ENST00000371984.8:c.1332G>T (POMGNT1) MANE Select | ENSP00000361052.3:p.Glu444Asp | |
| ENST00000371984.7:c.1332G>T (POMGNT1) | ENSP00000361052.3:p.Glu444Asp | |
| ENST00000371992.1:c.1332G>T (POMGNT1) | ENSP00000361060.1:p.Glu444Asp | |
| ENST00000396420.7:c.*1001G>T (POMGNT1) | ENSP00000379698.3:n.*1001G>T | |
| ENST00000485714.1:n.718G>T (POMGNT1) | ||
| NM_001243766.1:c.1332G>T (POMGNT1) | NP_001230695.1:p.Glu444Asp | |
| NM_001290129.1:c.1266G>T (POMGNT1) | NP_001277058.1:p.Glu422Asp | |
| NM_001290130.1:c.903G>T (POMGNT1) | NP_001277059.1:p.Glu301Asp | |
| NM_017739.3:c.1332G>T (POMGNT1) | NP_060209.3:p.Glu444Asp | |
| XM_005271010.1:c.1332G>T (POMGNT1) | XP_005271067.1:p.Glu444Asp | |
| XM_006710755.1:c.1332G>T (POMGNT1) | XP_006710818.1:p.Glu444Asp | |
| XM_006710756.1:c.1332G>T (POMGNT1) | XP_006710819.1:p.Glu444Asp | |
| XM_011540460.1:c.679-3813C>A (TSPAN1) | XP_011538762.1:n.679-3813C>A | |
| XM_011540461.1:c.634-3813C>A (TSPAN1) | XP_011538763.1:n.634-3813C>A | |
| XM_011541759.1:c.1266G>T (POMGNT1) | XP_011540061.1:p.Glu422Asp | |
| XM_011541760.1:c.1266G>T (POMGNT1) | XP_011540062.1:p.Glu422Asp | |
| XM_011541761.1:c.240G>T (POMGNT1) | XP_011540063.1:p.Glu80Asp | |
| XR_946706.1:n.1492G>T (POMGNT1) | ||
| XM_011540460.3:c.679-3813C>A (TSPAN1) | XP_011538762.1:n.679-3813C>A | |
| XM_011541760.3:c.1266G>T (POMGNT1) | XP_011540062.1:p.Glu422Asp | |
| XM_017001690.1:c.1332G>T (POMGNT1) | XP_016857179.1:p.Glu444Asp | |
| NM_001243766.2:c.1332G>T (POMGNT1) | NP_001230695.2:p.Glu444Asp | |
| NM_001290129.2:c.1266G>T (POMGNT1) | NP_001277058.2:p.Glu422Asp | |
| NM_001290130.2:c.903G>T (POMGNT1) | NP_001277059.2:p.Glu301Asp | |
| NM_017739.4:c.1332G>T (POMGNT1) MANE Select | NP_060209.4:p.Glu444Asp |