Linked Data
ClinVar Variation Id:
167524
ClinVar RCV Id:
RCV000153758
RCV000986313
RCV001513688
RCV001789216
RCV001789218
RCV001789217
RCV001789219
dbSNP Id:
rs6659553
ExAC:
1:46655158 T / C
gnomAD v2:
1-46655158-T-C
gnomAD v3:
1-46189486-T-C
gnomAD v4:
1-46189486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189486T>C , CM000663.2:g.46189486T>C | GRCh38 |
| NC_000001.10:g.46655158T>C , CM000663.1:g.46655158T>C | GRCh37 |
| NC_000001.9:g.46427745T>C | NCBI36 |
| NG_009205.3:g.35820A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1867A>G (POMGNT1) | ENSP00000379698.4:p.Met623Val | |
| ENST00000497439.6:n.2039A>G (POMGNT1) | ||
| ENST00000684817.1:n.2227A>G (POMGNT1) | ||
| ENST00000684898.1:n.2429A>G (POMGNT1) | ||
| ENST00000685230.1:c.*1177A>G (POMGNT1) | ENSP00000510305.1:n.*1177A>G | |
| ENST00000685275.1:n.2414A>G (POMGNT1) | ||
| ENST00000685444.1:c.1768A>G (POMGNT1) | ENSP00000510762.1:p.Met590Val | |
| ENST00000685704.1:n.2533A>G (POMGNT1) | ||
| ENST00000685833.1:n.4260A>G (POMGNT1) | ||
| ENST00000686252.1:n.2941A>G (POMGNT1) | ||
| ENST00000686379.1:c.*991A>G (POMGNT1) | ENSP00000508913.1:n.*991A>G | |
| ENST00000686724.1:n.3554A>G (POMGNT1) | ||
| ENST00000686737.1:c.1867A>G (POMGNT1) | ENSP00000508736.1:p.Met623Val | |
| ENST00000687112.1:n.2733A>G (POMGNT1) | ||
| ENST00000687149.1:c.1906A>G (POMGNT1) | ENSP00000509745.1:p.Met636Val | |
| ENST00000687197.1:c.*807A>G (POMGNT1) | ENSP00000510749.1:n.*807A>G | |
| ENST00000687235.1:n.3944A>G (POMGNT1) | ||
| ENST00000687613.1:n.2507A>G (POMGNT1) | ||
| ENST00000687683.1:c.1867A>G (POMGNT1) | ENSP00000508522.1:p.Met623Val | |
| ENST00000688032.1:n.2404A>G (POMGNT1) | ||
| ENST00000688596.1:n.2518A>G (POMGNT1) | ||
| ENST00000688608.1:c.1768A>G (POMGNT1) | ENSP00000508890.1:p.Met590Val | |
| ENST00000689031.1:n.2319A>G (POMGNT1) | ||
| ENST00000689756.1:c.*1499A>G (POMGNT1) | ENSP00000509023.1:n.*1499A>G | |
| ENST00000690377.1:n.2214A>G (POMGNT1) | ||
| ENST00000690678.1:c.1867A>G (POMGNT1) | ENSP00000508703.1:p.Met623Val | |
| ENST00000691185.1:n.338A>G (POMGNT1) | ||
| ENST00000691209.1:c.*807A>G (POMGNT1) | ENSP00000510112.1:n.*807A>G | |
| ENST00000691243.1:c.*258A>G (POMGNT1) | ENSP00000510654.1:n.*258A>G | |
| ENST00000692202.1:n.2442A>G (POMGNT1) | ||
| ENST00000692322.1:c.*1654A>G (POMGNT1) | ENSP00000509017.1:n.*1654A>G | |
| ENST00000692369.1:c.1867A>G (POMGNT1) | ENSP00000508453.1:p.Met623Val | |
| ENST00000692599.1:n.3742A>G (POMGNT1) | ||
| ENST00000692635.1:c.*742A>G (POMGNT1) | ENSP00000508425.1:n.*742A>G | |
| ENST00000693168.1:n.3643A>G (POMGNT1) | ||
| ENST00000693218.1:c.*428A>G (POMGNT1) | ENSP00000510577.1:n.*428A>G | |
| ENST00000693223.1:n.2815A>G (POMGNT1) | ||
| ENST00000371984.8:c.1867A>G (POMGNT1) MANE Select | ENSP00000361052.3:p.Met623Val | |
| ENST00000371984.7:c.1867A>G (POMGNT1) | ENSP00000361052.3:p.Met623Val | |
| ENST00000371992.1:c.1867A>G (POMGNT1) | ENSP00000361060.1:p.Met623Val | |
| ENST00000396420.7:c.*1536A>G (POMGNT1) | ENSP00000379698.3:n.*1536A>G | |
| ENST00000475642.1:n.82A>G (POMGNT1) | ||
| XM_005271010.1:c.1867A>G (POMGNT1) | XP_005271067.1:p.Met623Val | |
| XM_006710755.1:c.1867A>G (POMGNT1) | XP_006710818.1:p.Met623Val | |
| XM_006710756.1:c.1867A>G (POMGNT1) | XP_006710819.1:p.Met623Val | |
| XM_011540460.1:c.678+4178T>C (TSPAN1) | XP_011538762.1:n.678+4178T>C | |
| XM_011540461.1:c.633+4178T>C (TSPAN1) | XP_011538763.1:n.633+4178T>C | |
| XM_011541759.1:c.1801A>G (POMGNT1) | XP_011540061.1:p.Met601Val | |
| XM_011541760.1:c.1801A>G (POMGNT1) | XP_011540062.1:p.Met601Val | |
| XM_011541761.1:c.775A>G (POMGNT1) | XP_011540063.1:p.Met259Val | |
| XM_011540460.3:c.678+4178T>C (TSPAN1) | XP_011538762.1:n.678+4178T>C | |
| XM_011541760.3:c.1801A>G (POMGNT1) | XP_011540062.1:p.Met601Val | |
| XM_017001690.1:c.1867A>G (POMGNT1) | XP_016857179.1:p.Met623Val | |
| NM_001243766.2:c.1867A>G (POMGNT1) | NP_001230695.2:p.Met623Val | |
| NM_001290129.2:c.1801A>G (POMGNT1) | NP_001277058.2:p.Met601Val | |
| NM_001290130.2:c.1438A>G (POMGNT1) | NP_001277059.2:p.Met480Val | |
| NM_017739.4:c.1867A>G (POMGNT1) MANE Select | NP_060209.4:p.Met623Val |