Linked Data
ClinVar Variation Id:
1339913
dbSNP Id:
rs766290773
ExAC:
1:46654950 G / A
gnomAD v2:
1-46654950-G-A
gnomAD v4:
1-46189278-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189278G>A , CM000663.2:g.46189278G>A | GRCh38 |
| NC_000001.10:g.46654950G>A , CM000663.1:g.46654950G>A | GRCh37 |
| NC_000001.9:g.46427537G>A | NCBI36 |
| NG_009205.2:g.36028C>T | |
| NG_009205.3:g.36028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1975C>T (POMGNT1) | ENSP00000379698.4:p.Gln659Ter | |
| ENST00000497439.6:n.2147C>T (POMGNT1) | ||
| ENST00000684817.1:n.2335C>T (POMGNT1) | ||
| ENST00000684898.1:n.2637C>T (POMGNT1) | ||
| ENST00000685230.1:c.*1285C>T (POMGNT1) | ENSP00000510305.1:n.*1285C>T | |
| ENST00000685275.1:n.2522C>T (POMGNT1) | ||
| ENST00000685444.1:c.1876C>T (POMGNT1) | ENSP00000510762.1:p.Gln626Ter | |
| ENST00000685704.1:n.2641C>T (POMGNT1) | ||
| ENST00000685833.1:n.4368C>T (POMGNT1) | ||
| ENST00000686252.1:n.3049C>T (POMGNT1) | ||
| ENST00000686379.1:c.*1099C>T (POMGNT1) | ENSP00000508913.1:n.*1099C>T | |
| ENST00000686724.1:n.3662C>T (POMGNT1) | ||
| ENST00000686737.1:c.1975C>T (POMGNT1) | ENSP00000508736.1:p.Gln659Ter | |
| ENST00000687112.1:n.2841C>T (POMGNT1) | ||
| ENST00000687149.1:c.2014C>T (POMGNT1) | ENSP00000509745.1:p.Gln672Ter | |
| ENST00000687197.1:c.*835+180C>T (POMGNT1) | ENSP00000510749.1:n.*835+180C>T | |
| ENST00000687235.1:n.4052C>T (POMGNT1) | ||
| ENST00000687613.1:n.2615C>T (POMGNT1) | ||
| ENST00000687683.1:c.1975C>T (POMGNT1) | ENSP00000508522.1:p.Gln659Ter | |
| ENST00000688032.1:n.2512C>T (POMGNT1) | ||
| ENST00000688596.1:n.2626C>T (POMGNT1) | ||
| ENST00000688608.1:c.1876C>T (POMGNT1) | ENSP00000508890.1:p.Gln626Ter | |
| ENST00000689031.1:n.2347+180C>T (POMGNT1) | ||
| ENST00000689756.1:c.*1607C>T (POMGNT1) | ENSP00000509023.1:n.*1607C>T | |
| ENST00000690377.1:n.2322C>T (POMGNT1) | ||
| ENST00000690678.1:c.1975C>T (POMGNT1) | ENSP00000508703.1:p.Gln659Ter | |
| ENST00000691185.1:n.446C>T (POMGNT1) | ||
| ENST00000691209.1:c.*915C>T (POMGNT1) | ENSP00000510112.1:n.*915C>T | |
| ENST00000691243.1:c.*366C>T (POMGNT1) | ENSP00000510654.1:n.*366C>T | |
| ENST00000692202.1:n.2550C>T (POMGNT1) | ||
| ENST00000692322.1:c.*1862C>T (POMGNT1) | ENSP00000509017.1:n.*1862C>T | |
| ENST00000692369.1:c.1895+180C>T (POMGNT1) | ENSP00000508453.1:n.1895+180C>T | |
| ENST00000692599.1:n.3850C>T (POMGNT1) | ||
| ENST00000692635.1:c.*850C>T (POMGNT1) | ENSP00000508425.1:n.*850C>T | |
| ENST00000693168.1:n.3751C>T (POMGNT1) | ||
| ENST00000693218.1:c.*536C>T (POMGNT1) | ENSP00000510577.1:n.*536C>T | |
| ENST00000693223.1:n.2923C>T (POMGNT1) | ||
| ENST00000371984.8:c.1975C>T (POMGNT1) MANE Select | ENSP00000361052.3:p.Gln659Ter | |
| ENST00000371984.7:c.1975C>T (POMGNT1) | ENSP00000361052.3:p.Gln659Ter | |
| ENST00000371992.1:c.1949C>T (POMGNT1) | ENSP00000361060.1:p.Thr650Ile | |
| ENST00000396420.7:c.*1644C>T (POMGNT1) | ENSP00000379698.3:n.*1644C>T | |
| ENST00000475642.1:n.110+180C>T (POMGNT1) | ||
| NM_001243766.1:c.1949C>T (POMGNT1) | NP_001230695.1:p.Thr650Ile | |
| NM_001290129.1:c.1909C>T (POMGNT1) | NP_001277058.1:p.Gln637Ter | |
| NM_001290130.1:c.1546C>T (POMGNT1) | NP_001277059.1:p.Gln516Ter | |
| NM_017739.3:c.1975C>T (POMGNT1) | NP_060209.3:p.Gln659Ter | |
| XM_005271010.1:c.1895+180C>T (POMGNT1) | XP_005271067.1:n.1895+180C>T | |
| XM_006710755.1:c.1895+180C>T (POMGNT1) | XP_006710818.1:n.1895+180C>T | |
| XM_006710756.1:c.1949C>T (POMGNT1) | XP_006710819.1:p.Thr650Ile | |
| XM_011540460.1:c.678+3970G>A (TSPAN1) | XP_011538762.1:n.678+3970G>A | |
| XM_011540461.1:c.633+3970G>A (TSPAN1) | XP_011538763.1:n.633+3970G>A | |
| XM_011541759.1:c.1829+180C>T (POMGNT1) | XP_011540061.1:n.1829+180C>T | |
| XM_011541760.1:c.1909C>T (POMGNT1) | XP_011540062.1:p.Gln637Ter | |
| XM_011541761.1:c.803+180C>T (POMGNT1) | XP_011540063.1:n.803+180C>T | |
| XM_011540460.3:c.678+3970G>A (TSPAN1) | XP_011538762.1:n.678+3970G>A | |
| XM_011541760.3:c.1909C>T (POMGNT1) | XP_011540062.1:p.Gln637Ter | |
| XM_017001690.1:c.1975C>T (POMGNT1) | XP_016857179.1:p.Gln659Ter | |
| NM_001243766.2:c.1949C>T (POMGNT1) | NP_001230695.2:p.Thr650Ile | |
| NM_001290129.2:c.1909C>T (POMGNT1) | NP_001277058.2:p.Gln637Ter | |
| NM_001290130.2:c.1546C>T (POMGNT1) | NP_001277059.2:p.Gln516Ter | |
| NM_017739.4:c.1975C>T (POMGNT1) MANE Select | NP_060209.4:p.Gln659Ter |