Linked Data
ClinVar Variation Id:
56578
ClinVar RCV Id:
RCV000049991
RCV000292476
RCV000375211
RCV000983991
RCV001853063
RCV002514260
RCV003460639
dbSNP Id:
rs386834012
ExAC:
1:46658110 T / C
gnomAD v2:
1-46658110-T-C
gnomAD v3:
1-46192438-T-C
gnomAD v4:
1-46192438-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192438T>C , CM000663.2:g.46192438T>C | GRCh38 |
| NC_000001.10:g.46658110T>C , CM000663.1:g.46658110T>C | GRCh37 |
| NC_000001.9:g.46430697T>C | NCBI36 |
| NG_009205.2:g.32868A>G | |
| NG_009205.3:g.32868A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1285-2A>G (POMGNT1) | ENSP00000379698.4:n.1285-2A>G | |
| ENST00000477114.2:n.1847-2A>G (POMGNT1) | ||
| ENST00000497439.6:n.1457-2A>G (POMGNT1) | ||
| ENST00000684817.1:n.1645-2A>G (POMGNT1) | ||
| ENST00000684898.1:n.1847-2A>G (POMGNT1) | ||
| ENST00000685230.1:c.*595-2A>G (POMGNT1) | ENSP00000510305.1:n.*595-2A>G | |
| ENST00000685275.1:n.1832-2A>G (POMGNT1) | ||
| ENST00000685444.1:c.1186-2A>G (POMGNT1) | ENSP00000510762.1:n.1186-2A>G | |
| ENST00000685704.1:n.1847-2A>G (POMGNT1) | ||
| ENST00000685775.1:n.2812-2A>G (POMGNT1) | ||
| ENST00000685833.1:n.2163-2A>G (POMGNT1) | ||
| ENST00000686252.1:n.2359-2A>G (POMGNT1) | ||
| ENST00000686379.1:c.*409-2A>G (POMGNT1) | ENSP00000508913.1:n.*409-2A>G | |
| ENST00000686724.1:n.1457-2A>G (POMGNT1) | ||
| ENST00000686737.1:c.1285-2A>G (POMGNT1) | ENSP00000508736.1:n.1285-2A>G | |
| ENST00000687112.1:n.2151-2A>G (POMGNT1) | ||
| ENST00000687149.1:c.1285-2A>G (POMGNT1) | ENSP00000509745.1:n.1285-2A>G | |
| ENST00000687197.1:c.*225-2A>G (POMGNT1) | ENSP00000510749.1:n.*225-2A>G | |
| ENST00000687235.1:n.1847-2A>G (POMGNT1) | ||
| ENST00000687613.1:n.2035-2A>G (POMGNT1) | ||
| ENST00000687683.1:c.1285-2A>G (POMGNT1) | ENSP00000508522.1:n.1285-2A>G | |
| ENST00000688032.1:n.1847-2A>G (POMGNT1) | ||
| ENST00000688596.1:n.1936-2A>G (POMGNT1) | ||
| ENST00000688608.1:c.1186-2A>G (POMGNT1) | ENSP00000508890.1:n.1186-2A>G | |
| ENST00000688919.1:n.2481-2A>G (POMGNT1) | ||
| ENST00000689031.1:n.1847-2A>G (POMGNT1) | ||
| ENST00000689717.1:n.1457-2A>G (POMGNT1) | ||
| ENST00000689756.1:c.*917-2A>G (POMGNT1) | ENSP00000509023.1:n.*917-2A>G | |
| ENST00000690377.1:n.1632-2A>G (POMGNT1) | ||
| ENST00000690678.1:c.1285-2A>G (POMGNT1) | ENSP00000508703.1:n.1285-2A>G | |
| ENST00000691209.1:c.*225-2A>G (POMGNT1) | ENSP00000510112.1:n.*225-2A>G | |
| ENST00000691243.1:c.1285-2A>G (POMGNT1) | ENSP00000510654.1:n.1285-2A>G | |
| ENST00000692169.1:n.1434-2A>G (POMGNT1) | ||
| ENST00000692202.1:n.1860-2A>G (POMGNT1) | ||
| ENST00000692322.1:c.*1137-2A>G (POMGNT1) | ENSP00000509017.1:n.*1137-2A>G | |
| ENST00000692369.1:c.1285-2A>G (POMGNT1) | ENSP00000508453.1:n.1285-2A>G | |
| ENST00000692599.1:n.1847-2A>G (POMGNT1) | ||
| ENST00000692635.1:c.*225-2A>G (POMGNT1) | ENSP00000508425.1:n.*225-2A>G | |
| ENST00000693168.1:n.1546-2A>G (POMGNT1) | ||
| ENST00000693218.1:c.1285-2A>G (POMGNT1) | ENSP00000510577.1:n.1285-2A>G | |
| ENST00000693223.1:n.2233-2A>G (POMGNT1) | ||
| ENST00000693365.1:n.3919-2A>G (POMGNT1) | ||
| ENST00000371984.8:c.1285-2A>G (POMGNT1) MANE Select | ENSP00000361052.3:n.1285-2A>G | |
| ENST00000371984.7:c.1285-2A>G (POMGNT1) | ENSP00000361052.3:n.1285-2A>G | |
| ENST00000371992.1:c.1285-2A>G (POMGNT1) | ENSP00000361060.1:n.1285-2A>G | |
| ENST00000396420.7:c.*954-2A>G (POMGNT1) | ENSP00000379698.3:n.*954-2A>G | |
| ENST00000485714.1:n.671-2A>G (POMGNT1) | ||
| NM_001243766.1:c.1285-2A>G (POMGNT1) | NP_001230695.1:n.1285-2A>G | |
| NM_001290129.1:c.1219-2A>G (POMGNT1) | NP_001277058.1:n.1219-2A>G | |
| NM_001290130.1:c.856-2A>G (POMGNT1) | NP_001277059.1:n.856-2A>G | |
| NM_017739.3:c.1285-2A>G (POMGNT1) | NP_060209.3:n.1285-2A>G | |
| XM_005271010.1:c.1285-2A>G (POMGNT1) | XP_005271067.1:n.1285-2A>G | |
| XM_006710755.1:c.1285-2A>G (POMGNT1) | XP_006710818.1:n.1285-2A>G | |
| XM_006710756.1:c.1285-2A>G (POMGNT1) | XP_006710819.1:n.1285-2A>G | |
| XM_011540460.1:c.679-3764T>C (TSPAN1) | XP_011538762.1:n.679-3764T>C | |
| XM_011540461.1:c.634-3764T>C (TSPAN1) | XP_011538763.1:n.634-3764T>C | |
| XM_011541759.1:c.1219-2A>G (POMGNT1) | XP_011540061.1:n.1219-2A>G | |
| XM_011541760.1:c.1219-2A>G (POMGNT1) | XP_011540062.1:n.1219-2A>G | |
| XM_011541761.1:c.193-2A>G (POMGNT1) | XP_011540063.1:n.193-2A>G | |
| XR_946706.1:n.1445-2A>G (POMGNT1) | ||
| XM_011540460.3:c.679-3764T>C (TSPAN1) | XP_011538762.1:n.679-3764T>C | |
| XM_011541760.3:c.1219-2A>G (POMGNT1) | XP_011540062.1:n.1219-2A>G | |
| XM_017001690.1:c.1285-2A>G (POMGNT1) | XP_016857179.1:n.1285-2A>G | |
| NM_001243766.2:c.1285-2A>G (POMGNT1) | NP_001230695.2:n.1285-2A>G | |
| NM_001290129.2:c.1219-2A>G (POMGNT1) | NP_001277058.2:n.1219-2A>G | |
| NM_001290130.2:c.856-2A>G (POMGNT1) | NP_001277059.2:n.856-2A>G | |
| NM_017739.4:c.1285-2A>G (POMGNT1) MANE Select | NP_060209.4:n.1285-2A>G |