Linked Data
ClinVar Variation Id:
1542776
ClinVar RCV Id:
RCV002167506
dbSNP Id:
rs1255591571
gnomAD v3:
1-46190529-G-T
gnomAD v4:
1-46190529-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46190529G>T , CM000663.2:g.46190529G>T | GRCh38 |
| NC_000001.10:g.46656201G>T , CM000663.1:g.46656201G>T | GRCh37 |
| NC_000001.9:g.46428788G>T | NCBI36 |
| NG_009205.2:g.34777C>A | |
| NG_009205.3:g.34777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1605-12C>A (POMGNT1) | ENSP00000379698.4:n.1605-12C>A | |
| ENST00000477114.2:n.2167-12C>A (POMGNT1) | ||
| ENST00000497439.6:n.1777-12C>A (POMGNT1) | ||
| ENST00000684817.1:n.1965-12C>A (POMGNT1) | ||
| ENST00000684898.1:n.2167-12C>A (POMGNT1) | ||
| ENST00000685230.1:c.*915-12C>A (POMGNT1) | ENSP00000510305.1:n.*915-12C>A | |
| ENST00000685275.1:n.2152-12C>A (POMGNT1) | ||
| ENST00000685444.1:c.1506-12C>A (POMGNT1) | ENSP00000510762.1:n.1506-12C>A | |
| ENST00000685704.1:n.2259C>A (POMGNT1) | ||
| ENST00000685775.1:n.4635C>A (POMGNT1) | ||
| ENST00000685833.1:n.3986C>A (POMGNT1) | ||
| ENST00000686252.1:n.2679-12C>A (POMGNT1) | ||
| ENST00000686379.1:c.*729-12C>A (POMGNT1) | ENSP00000508913.1:n.*729-12C>A | |
| ENST00000686724.1:n.3280C>A (POMGNT1) | ||
| ENST00000686737.1:c.1605-12C>A (POMGNT1) | ENSP00000508736.1:n.1605-12C>A | |
| ENST00000687112.1:n.2471-12C>A (POMGNT1) | ||
| ENST00000687149.1:c.1632C>A (POMGNT1) | ENSP00000509745.1:p.Ser544= | |
| ENST00000687197.1:c.*545-12C>A (POMGNT1) | ENSP00000510749.1:n.*545-12C>A | |
| ENST00000687235.1:n.3670C>A (POMGNT1) | ||
| ENST00000687613.1:n.2290-540C>A (POMGNT1) | ||
| ENST00000687683.1:c.1605-12C>A (POMGNT1) | ENSP00000508522.1:n.1605-12C>A | |
| ENST00000688032.1:n.2142-12C>A (POMGNT1) | ||
| ENST00000688596.1:n.2256-12C>A (POMGNT1) | ||
| ENST00000688608.1:c.1506-12C>A (POMGNT1) | ENSP00000508890.1:n.1506-12C>A | |
| ENST00000688919.1:n.2991C>A (POMGNT1) | ||
| ENST00000689031.1:n.2102-540C>A (POMGNT1) | ||
| ENST00000689717.1:n.1967C>A (POMGNT1) | ||
| ENST00000689756.1:c.*1237-12C>A (POMGNT1) | ENSP00000509023.1:n.*1237-12C>A | |
| ENST00000690377.1:n.1952-12C>A (POMGNT1) | ||
| ENST00000690678.1:c.1605-12C>A (POMGNT1) | ENSP00000508703.1:n.1605-12C>A | |
| ENST00000691209.1:c.*545-12C>A (POMGNT1) | ENSP00000510112.1:n.*545-12C>A | |
| ENST00000691243.1:c.1580-12C>A (POMGNT1) | ENSP00000510654.1:n.1580-12C>A | |
| ENST00000692169.1:n.3257C>A (POMGNT1) | ||
| ENST00000692202.1:n.2180-12C>A (POMGNT1) | ||
| ENST00000692322.1:c.*1392-12C>A (POMGNT1) | ENSP00000509017.1:n.*1392-12C>A | |
| ENST00000692369.1:c.1605-12C>A (POMGNT1) | ENSP00000508453.1:n.1605-12C>A | |
| ENST00000692599.1:n.3480-12C>A (POMGNT1) | ||
| ENST00000692635.1:c.*480-12C>A (POMGNT1) | ENSP00000508425.1:n.*480-12C>A | |
| ENST00000693168.1:n.3369C>A (POMGNT1) | ||
| ENST00000693218.1:c.*154C>A (POMGNT1) | ENSP00000510577.1:n.*154C>A | |
| ENST00000693223.1:n.2553-12C>A (POMGNT1) | ||
| ENST00000693365.1:n.5742C>A (POMGNT1) | ||
| ENST00000371984.8:c.1605-12C>A (POMGNT1) MANE Select | ENSP00000361052.3:n.1605-12C>A | |
| ENST00000371984.7:c.1605-12C>A (POMGNT1) | ENSP00000361052.3:n.1605-12C>A | |
| ENST00000371992.1:c.1605-12C>A (POMGNT1) | ENSP00000361060.1:n.1605-12C>A | |
| ENST00000396420.7:c.*1274-12C>A (POMGNT1) | ENSP00000379698.3:n.*1274-12C>A | |
| ENST00000480972.1:n.254-12C>A (POMGNT1) | ||
| ENST00000485714.1:n.2494C>A (POMGNT1) | ||
| NM_001243766.1:c.1605-12C>A (POMGNT1) | NP_001230695.1:n.1605-12C>A | |
| NM_001290129.1:c.1539-12C>A (POMGNT1) | NP_001277058.1:n.1539-12C>A | |
| NM_001290130.1:c.1176-12C>A (POMGNT1) | NP_001277059.1:n.1176-12C>A | |
| NM_017739.3:c.1605-12C>A (POMGNT1) | NP_060209.3:n.1605-12C>A | |
| XM_005271010.1:c.1605-12C>A (POMGNT1) | XP_005271067.1:n.1605-12C>A | |
| XM_006710755.1:c.1605-12C>A (POMGNT1) | XP_006710818.1:n.1605-12C>A | |
| XM_006710756.1:c.1605-12C>A (POMGNT1) | XP_006710819.1:n.1605-12C>A | |
| XM_011540460.1:c.678+5221G>T (TSPAN1) | XP_011538762.1:n.678+5221G>T | |
| XM_011540461.1:c.633+5221G>T (TSPAN1) | XP_011538763.1:n.633+5221G>T | |
| XM_011541759.1:c.1539-12C>A (POMGNT1) | XP_011540061.1:n.1539-12C>A | |
| XM_011541760.1:c.1539-12C>A (POMGNT1) | XP_011540062.1:n.1539-12C>A | |
| XM_011541761.1:c.513-12C>A (POMGNT1) | XP_011540063.1:n.513-12C>A | |
| XM_011540460.3:c.678+5221G>T (TSPAN1) | XP_011538762.1:n.678+5221G>T | |
| XM_011541760.3:c.1539-12C>A (POMGNT1) | XP_011540062.1:n.1539-12C>A | |
| XM_017001690.1:c.1605-12C>A (POMGNT1) | XP_016857179.1:n.1605-12C>A | |
| NM_001243766.2:c.1605-12C>A (POMGNT1) | NP_001230695.2:n.1605-12C>A | |
| NM_001290129.2:c.1539-12C>A (POMGNT1) | NP_001277058.2:n.1539-12C>A | |
| NM_001290130.2:c.1176-12C>A (POMGNT1) | NP_001277059.2:n.1176-12C>A | |
| NM_017739.4:c.1605-12C>A (POMGNT1) MANE Select | NP_060209.4:n.1605-12C>A |