Linked Data
ClinVar Variation Id:
288627
dbSNP Id:
rs886043958
gnomAD v2:
1-46655002-T-G
gnomAD v3:
1-46189330-T-G
gnomAD v4:
1-46189330-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189330T>G , CM000663.2:g.46189330T>G | GRCh38 |
| NC_000001.10:g.46655002T>G , CM000663.1:g.46655002T>G | GRCh37 |
| NC_000001.9:g.46427589T>G | NCBI36 |
| NG_009205.2:g.35976A>C | |
| NG_009205.3:g.35976A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1923A>C (POMGNT1) | ENSP00000379698.4:p.Pro641= | |
| ENST00000497439.6:n.2095A>C (POMGNT1) | ||
| ENST00000684817.1:n.2283A>C (POMGNT1) | ||
| ENST00000684898.1:n.2585A>C (POMGNT1) | ||
| ENST00000685230.1:c.*1233A>C (POMGNT1) | ENSP00000510305.1:n.*1233A>C | |
| ENST00000685275.1:n.2470A>C (POMGNT1) | ||
| ENST00000685444.1:c.1824A>C (POMGNT1) | ENSP00000510762.1:p.Pro608= | |
| ENST00000685704.1:n.2589A>C (POMGNT1) | ||
| ENST00000685833.1:n.4316A>C (POMGNT1) | ||
| ENST00000686252.1:n.2997A>C (POMGNT1) | ||
| ENST00000686379.1:c.*1047A>C (POMGNT1) | ENSP00000508913.1:n.*1047A>C | |
| ENST00000686724.1:n.3610A>C (POMGNT1) | ||
| ENST00000686737.1:c.1923A>C (POMGNT1) | ENSP00000508736.1:p.Pro641= | |
| ENST00000687112.1:n.2789A>C (POMGNT1) | ||
| ENST00000687149.1:c.1962A>C (POMGNT1) | ENSP00000509745.1:p.Pro654= | |
| ENST00000687197.1:c.*835+128A>C (POMGNT1) | ENSP00000510749.1:n.*835+128A>C | |
| ENST00000687235.1:n.4000A>C (POMGNT1) | ||
| ENST00000687613.1:n.2563A>C (POMGNT1) | ||
| ENST00000687683.1:c.1923A>C (POMGNT1) | ENSP00000508522.1:p.Pro641= | |
| ENST00000688032.1:n.2460A>C (POMGNT1) | ||
| ENST00000688596.1:n.2574A>C (POMGNT1) | ||
| ENST00000688608.1:c.1824A>C (POMGNT1) | ENSP00000508890.1:p.Pro608= | |
| ENST00000689031.1:n.2347+128A>C (POMGNT1) | ||
| ENST00000689756.1:c.*1555A>C (POMGNT1) | ENSP00000509023.1:n.*1555A>C | |
| ENST00000690377.1:n.2270A>C (POMGNT1) | ||
| ENST00000690678.1:c.1923A>C (POMGNT1) | ENSP00000508703.1:p.Pro641= | |
| ENST00000691185.1:n.394A>C (POMGNT1) | ||
| ENST00000691209.1:c.*863A>C (POMGNT1) | ENSP00000510112.1:n.*863A>C | |
| ENST00000691243.1:c.*314A>C (POMGNT1) | ENSP00000510654.1:n.*314A>C | |
| ENST00000692202.1:n.2498A>C (POMGNT1) | ||
| ENST00000692322.1:c.*1810A>C (POMGNT1) | ENSP00000509017.1:n.*1810A>C | |
| ENST00000692369.1:c.1895+128A>C (POMGNT1) | ENSP00000508453.1:n.1895+128A>C | |
| ENST00000692599.1:n.3798A>C (POMGNT1) | ||
| ENST00000692635.1:c.*798A>C (POMGNT1) | ENSP00000508425.1:n.*798A>C | |
| ENST00000693168.1:n.3699A>C (POMGNT1) | ||
| ENST00000693218.1:c.*484A>C (POMGNT1) | ENSP00000510577.1:n.*484A>C | |
| ENST00000693223.1:n.2871A>C (POMGNT1) | ||
| ENST00000371984.8:c.1923A>C (POMGNT1) MANE Select | ENSP00000361052.3:p.Pro641= | |
| ENST00000371984.7:c.1923A>C (POMGNT1) | ENSP00000361052.3:p.Pro641= | |
| ENST00000371992.1:c.1897A>C (POMGNT1) | ENSP00000361060.1:p.Asn633His | |
| ENST00000396420.7:c.*1592A>C (POMGNT1) | ENSP00000379698.3:n.*1592A>C | |
| ENST00000475642.1:n.110+128A>C (POMGNT1) | ||
| NM_001243766.1:c.1897A>C (POMGNT1) | NP_001230695.1:p.Asn633His | |
| NM_001290129.1:c.1857A>C (POMGNT1) | NP_001277058.1:p.Pro619= | |
| NM_001290130.1:c.1494A>C (POMGNT1) | NP_001277059.1:p.Pro498= | |
| NM_017739.3:c.1923A>C (POMGNT1) | NP_060209.3:p.Pro641= | |
| XM_005271010.1:c.1895+128A>C (POMGNT1) | XP_005271067.1:n.1895+128A>C | |
| XM_006710755.1:c.1895+128A>C (POMGNT1) | XP_006710818.1:n.1895+128A>C | |
| XM_006710756.1:c.1897A>C (POMGNT1) | XP_006710819.1:p.Asn633His | |
| XM_011540460.1:c.678+4022T>G (TSPAN1) | XP_011538762.1:n.678+4022T>G | |
| XM_011540461.1:c.633+4022T>G (TSPAN1) | XP_011538763.1:n.633+4022T>G | |
| XM_011541759.1:c.1829+128A>C (POMGNT1) | XP_011540061.1:n.1829+128A>C | |
| XM_011541760.1:c.1857A>C (POMGNT1) | XP_011540062.1:p.Pro619= | |
| XM_011541761.1:c.803+128A>C (POMGNT1) | XP_011540063.1:n.803+128A>C | |
| XM_011540460.3:c.678+4022T>G (TSPAN1) | XP_011538762.1:n.678+4022T>G | |
| XM_011541760.3:c.1857A>C (POMGNT1) | XP_011540062.1:p.Pro619= | |
| XM_017001690.1:c.1923A>C (POMGNT1) | XP_016857179.1:p.Pro641= | |
| NM_001243766.2:c.1897A>C (POMGNT1) | NP_001230695.2:p.Asn633His | |
| NM_001290129.2:c.1857A>C (POMGNT1) | NP_001277058.2:p.Pro619= | |
| NM_001290130.2:c.1494A>C (POMGNT1) | NP_001277059.2:p.Pro498= | |
| NM_017739.4:c.1923A>C (POMGNT1) MANE Select | NP_060209.4:p.Pro641= |