Linked Data
ClinVar Variation Id:
499644
dbSNP Id:
rs1246120938
gnomAD v2:
1-46655628-A-G
gnomAD v4:
1-46189956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189956A>G , CM000663.2:g.46189956A>G | GRCh38 |
| NC_000001.10:g.46655628A>G , CM000663.1:g.46655628A>G | GRCh37 |
| NC_000001.9:g.46428215A>G | NCBI36 |
| NG_009205.2:g.35350T>C | |
| NG_009205.3:g.35350T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1683T>C (POMGNT1) | ENSP00000379698.4:p.Pro561= | |
| ENST00000497439.6:n.1855T>C (POMGNT1) | ||
| ENST00000684817.1:n.2043T>C (POMGNT1) | ||
| ENST00000684898.1:n.2245T>C (POMGNT1) | ||
| ENST00000685230.1:c.*993T>C (POMGNT1) | ENSP00000510305.1:n.*993T>C | |
| ENST00000685275.1:n.2230T>C (POMGNT1) | ||
| ENST00000685444.1:c.1584T>C (POMGNT1) | ENSP00000510762.1:p.Pro528= | |
| ENST00000685704.1:n.2349T>C (POMGNT1) | ||
| ENST00000685833.1:n.4076T>C (POMGNT1) | ||
| ENST00000686252.1:n.2757T>C (POMGNT1) | ||
| ENST00000686379.1:c.*807T>C (POMGNT1) | ENSP00000508913.1:n.*807T>C | |
| ENST00000686724.1:n.3370T>C (POMGNT1) | ||
| ENST00000686737.1:c.1683T>C (POMGNT1) | ENSP00000508736.1:p.Pro561= | |
| ENST00000687112.1:n.2549T>C (POMGNT1) | ||
| ENST00000687149.1:c.1722T>C (POMGNT1) | ENSP00000509745.1:p.Pro574= | |
| ENST00000687197.1:c.*623T>C (POMGNT1) | ENSP00000510749.1:n.*623T>C | |
| ENST00000687235.1:n.3760T>C (POMGNT1) | ||
| ENST00000687613.1:n.2323T>C (POMGNT1) | ||
| ENST00000687683.1:c.1683T>C (POMGNT1) | ENSP00000508522.1:p.Pro561= | |
| ENST00000688032.1:n.2220T>C (POMGNT1) | ||
| ENST00000688596.1:n.2334T>C (POMGNT1) | ||
| ENST00000688608.1:c.1584T>C (POMGNT1) | ENSP00000508890.1:p.Pro528= | |
| ENST00000689031.1:n.2135T>C (POMGNT1) | ||
| ENST00000689756.1:c.*1315T>C (POMGNT1) | ENSP00000509023.1:n.*1315T>C | |
| ENST00000690377.1:n.2030T>C (POMGNT1) | ||
| ENST00000690678.1:c.1683T>C (POMGNT1) | ENSP00000508703.1:p.Pro561= | |
| ENST00000691209.1:c.*623T>C (POMGNT1) | ENSP00000510112.1:n.*623T>C | |
| ENST00000691243.1:c.*74T>C (POMGNT1) | ENSP00000510654.1:n.*74T>C | |
| ENST00000692202.1:n.2258T>C (POMGNT1) | ||
| ENST00000692322.1:c.*1470T>C (POMGNT1) | ENSP00000509017.1:n.*1470T>C | |
| ENST00000692369.1:c.1683T>C (POMGNT1) | ENSP00000508453.1:p.Pro561= | |
| ENST00000692599.1:n.3558T>C (POMGNT1) | ||
| ENST00000692635.1:c.*558T>C (POMGNT1) | ENSP00000508425.1:n.*558T>C | |
| ENST00000693168.1:n.3459T>C (POMGNT1) | ||
| ENST00000693218.1:c.*244T>C (POMGNT1) | ENSP00000510577.1:n.*244T>C | |
| ENST00000693223.1:n.2631T>C (POMGNT1) | ||
| ENST00000371984.8:c.1683T>C (POMGNT1) MANE Select | ENSP00000361052.3:p.Pro561= | |
| ENST00000371984.7:c.1683T>C (POMGNT1) | ENSP00000361052.3:p.Pro561= | |
| ENST00000371992.1:c.1683T>C (POMGNT1) | ENSP00000361060.1:p.Pro561= | |
| ENST00000396420.7:c.*1352T>C (POMGNT1) | ENSP00000379698.3:n.*1352T>C | |
| ENST00000480972.1:n.332T>C (POMGNT1) | ||
| NM_001243766.1:c.1683T>C (POMGNT1) | NP_001230695.1:p.Pro561= | |
| NM_001290129.1:c.1617T>C (POMGNT1) | NP_001277058.1:p.Pro539= | |
| NM_001290130.1:c.1254T>C (POMGNT1) | NP_001277059.1:p.Pro418= | |
| NM_017739.3:c.1683T>C (POMGNT1) | NP_060209.3:p.Pro561= | |
| XM_005271010.1:c.1683T>C (POMGNT1) | XP_005271067.1:p.Pro561= | |
| XM_006710755.1:c.1683T>C (POMGNT1) | XP_006710818.1:p.Pro561= | |
| XM_006710756.1:c.1683T>C (POMGNT1) | XP_006710819.1:p.Pro561= | |
| XM_011540460.1:c.678+4648A>G (TSPAN1) | XP_011538762.1:n.678+4648A>G | |
| XM_011540461.1:c.633+4648A>G (TSPAN1) | XP_011538763.1:n.633+4648A>G | |
| XM_011541759.1:c.1617T>C (POMGNT1) | XP_011540061.1:p.Pro539= | |
| XM_011541760.1:c.1617T>C (POMGNT1) | XP_011540062.1:p.Pro539= | |
| XM_011541761.1:c.591T>C (POMGNT1) | XP_011540063.1:p.Pro197= | |
| XM_011540460.3:c.678+4648A>G (TSPAN1) | XP_011538762.1:n.678+4648A>G | |
| XM_011541760.3:c.1617T>C (POMGNT1) | XP_011540062.1:p.Pro539= | |
| XM_017001690.1:c.1683T>C (POMGNT1) | XP_016857179.1:p.Pro561= | |
| NM_001243766.2:c.1683T>C (POMGNT1) | NP_001230695.2:p.Pro561= | |
| NM_001290129.2:c.1617T>C (POMGNT1) | NP_001277058.2:p.Pro539= | |
| NM_001290130.2:c.1254T>C (POMGNT1) | NP_001277059.2:p.Pro418= | |
| NM_017739.4:c.1683T>C (POMGNT1) MANE Select | NP_060209.4:p.Pro561= |