Linked Data
ClinVar Variation Id:
553478
ClinVar RCV Id:
RCV000668943
RCV001247989
RCV001731868
RCV001809739
RCV002531215
RCV003459603
RCV003889953
dbSNP Id:
rs760705290
ExAC:
1:46657796 C / T
gnomAD v2:
1-46657796-C-T
gnomAD v4:
1-46192124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192124C>T , CM000663.2:g.46192124C>T | GRCh38 |
| NC_000001.10:g.46657796C>T , CM000663.1:g.46657796C>T | GRCh37 |
| NC_000001.9:g.46430383C>T | NCBI36 |
| NG_009205.2:g.33182G>A | |
| NG_009205.3:g.33182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1513G>A (POMGNT1) | ENSP00000379698.4:p.Gly505Ser | |
| ENST00000477114.2:n.2075G>A (POMGNT1) | ||
| ENST00000497439.6:n.1685G>A (POMGNT1) | ||
| ENST00000684817.1:n.1873G>A (POMGNT1) | ||
| ENST00000684898.1:n.2075G>A (POMGNT1) | ||
| ENST00000685230.1:c.*823G>A (POMGNT1) | ENSP00000510305.1:n.*823G>A | |
| ENST00000685275.1:n.2060G>A (POMGNT1) | ||
| ENST00000685444.1:c.1414G>A (POMGNT1) | ENSP00000510762.1:p.Gly472Ser | |
| ENST00000685704.1:n.2075G>A (POMGNT1) | ||
| ENST00000685775.1:n.3040G>A (POMGNT1) | ||
| ENST00000685833.1:n.2391G>A (POMGNT1) | ||
| ENST00000686252.1:n.2587G>A (POMGNT1) | ||
| ENST00000686379.1:c.*637G>A (POMGNT1) | ENSP00000508913.1:n.*637G>A | |
| ENST00000686724.1:n.1685G>A (POMGNT1) | ||
| ENST00000686737.1:c.1513G>A (POMGNT1) | ENSP00000508736.1:p.Gly505Ser | |
| ENST00000687112.1:n.2379G>A (POMGNT1) | ||
| ENST00000687149.1:c.1513G>A (POMGNT1) | ENSP00000509745.1:p.Gly505Ser | |
| ENST00000687197.1:c.*453G>A (POMGNT1) | ENSP00000510749.1:n.*453G>A | |
| ENST00000687235.1:n.2075G>A (POMGNT1) | ||
| ENST00000687613.1:n.2263G>A (POMGNT1) | ||
| ENST00000687683.1:c.1513G>A (POMGNT1) | ENSP00000508522.1:p.Gly505Ser | |
| ENST00000688032.1:n.2075G>A (POMGNT1) | ||
| ENST00000688596.1:n.2164G>A (POMGNT1) | ||
| ENST00000688608.1:c.1414G>A (POMGNT1) | ENSP00000508890.1:p.Gly472Ser | |
| ENST00000688919.1:n.2709G>A (POMGNT1) | ||
| ENST00000689031.1:n.2075G>A (POMGNT1) | ||
| ENST00000689717.1:n.1685G>A (POMGNT1) | ||
| ENST00000689756.1:c.*1145G>A (POMGNT1) | ENSP00000509023.1:n.*1145G>A | |
| ENST00000690377.1:n.1860G>A (POMGNT1) | ||
| ENST00000690678.1:c.1513G>A (POMGNT1) | ENSP00000508703.1:p.Gly505Ser | |
| ENST00000691209.1:c.*453G>A (POMGNT1) | ENSP00000510112.1:n.*453G>A | |
| ENST00000691243.1:c.1513G>A (POMGNT1) | ENSP00000510654.1:p.Gly505Ser | |
| ENST00000692169.1:n.1662G>A (POMGNT1) | ||
| ENST00000692202.1:n.2088G>A (POMGNT1) | ||
| ENST00000692322.1:c.*1365G>A (POMGNT1) | ENSP00000509017.1:n.*1365G>A | |
| ENST00000692369.1:c.1513G>A (POMGNT1) | ENSP00000508453.1:p.Gly505Ser | |
| ENST00000692599.1:n.2075G>A (POMGNT1) | ||
| ENST00000692635.1:c.*453G>A (POMGNT1) | ENSP00000508425.1:n.*453G>A | |
| ENST00000693168.1:n.1774G>A (POMGNT1) | ||
| ENST00000693218.1:c.1513G>A (POMGNT1) | ENSP00000510577.1:p.Gly505Ser | |
| ENST00000693223.1:n.2461G>A (POMGNT1) | ||
| ENST00000693365.1:n.4147G>A (POMGNT1) | ||
| ENST00000371984.8:c.1513G>A (POMGNT1) MANE Select | ENSP00000361052.3:p.Gly505Ser | |
| ENST00000371984.7:c.1513G>A (POMGNT1) | ENSP00000361052.3:p.Gly505Ser | |
| ENST00000371992.1:c.1513G>A (POMGNT1) | ENSP00000361060.1:p.Gly505Ser | |
| ENST00000396420.7:c.*1182G>A (POMGNT1) | ENSP00000379698.3:n.*1182G>A | |
| ENST00000463030.1:n.134G>A (POMGNT1) | ||
| ENST00000485714.1:n.899G>A (POMGNT1) | ||
| NM_001243766.1:c.1513G>A (POMGNT1) | NP_001230695.1:p.Gly505Ser | |
| NM_001290129.1:c.1447G>A (POMGNT1) | NP_001277058.1:p.Gly483Ser | |
| NM_001290130.1:c.1084G>A (POMGNT1) | NP_001277059.1:p.Gly362Ser | |
| NM_017739.3:c.1513G>A (POMGNT1) | NP_060209.3:p.Gly505Ser | |
| XM_005271010.1:c.1513G>A (POMGNT1) | XP_005271067.1:p.Gly505Ser | |
| XM_006710755.1:c.1513G>A (POMGNT1) | XP_006710818.1:p.Gly505Ser | |
| XM_006710756.1:c.1513G>A (POMGNT1) | XP_006710819.1:p.Gly505Ser | |
| XM_011540460.1:c.679-4078C>T (TSPAN1) | XP_011538762.1:n.679-4078C>T | |
| XM_011540461.1:c.634-4078C>T (TSPAN1) | XP_011538763.1:n.634-4078C>T | |
| XM_011541759.1:c.1447G>A (POMGNT1) | XP_011540061.1:p.Gly483Ser | |
| XM_011541760.1:c.1447G>A (POMGNT1) | XP_011540062.1:p.Gly483Ser | |
| XM_011541761.1:c.421G>A (POMGNT1) | XP_011540063.1:p.Gly141Ser | |
| XM_011540460.3:c.679-4078C>T (TSPAN1) | XP_011538762.1:n.679-4078C>T | |
| XM_011541760.3:c.1447G>A (POMGNT1) | XP_011540062.1:p.Gly483Ser | |
| XM_017001690.1:c.1513G>A (POMGNT1) | XP_016857179.1:p.Gly505Ser | |
| NM_001243766.2:c.1513G>A (POMGNT1) | NP_001230695.2:p.Gly505Ser | |
| NM_001290129.2:c.1447G>A (POMGNT1) | NP_001277058.2:p.Gly483Ser | |
| NM_001290130.2:c.1084G>A (POMGNT1) | NP_001277059.2:p.Gly362Ser | |
| NM_017739.4:c.1513G>A (POMGNT1) MANE Select | NP_060209.4:p.Gly505Ser |