Linked Data
ClinVar Variation Id:
1016020
ClinVar RCV Id:
RCV001314962
dbSNP Id:
rs1657678070
gnomAD v4:
1-46190488-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46190488A>G , CM000663.2:g.46190488A>G | GRCh38 |
| NC_000001.10:g.46656160A>G , CM000663.1:g.46656160A>G | GRCh37 |
| NC_000001.9:g.46428747A>G | NCBI36 |
| NG_009205.2:g.34818T>C | |
| NG_009205.3:g.34818T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1634T>C (POMGNT1) | ENSP00000379698.4:p.Val545Ala | |
| ENST00000477114.2:n.2196T>C (POMGNT1) | ||
| ENST00000497439.6:n.1806T>C (POMGNT1) | ||
| ENST00000684817.1:n.1994T>C (POMGNT1) | ||
| ENST00000684898.1:n.2196T>C (POMGNT1) | ||
| ENST00000685230.1:c.*944T>C (POMGNT1) | ENSP00000510305.1:n.*944T>C | |
| ENST00000685275.1:n.2181T>C (POMGNT1) | ||
| ENST00000685444.1:c.1535T>C (POMGNT1) | ENSP00000510762.1:p.Val512Ala | |
| ENST00000685704.1:n.2300T>C (POMGNT1) | ||
| ENST00000685775.1:n.4676T>C (POMGNT1) | ||
| ENST00000685833.1:n.4027T>C (POMGNT1) | ||
| ENST00000686252.1:n.2708T>C (POMGNT1) | ||
| ENST00000686379.1:c.*758T>C (POMGNT1) | ENSP00000508913.1:n.*758T>C | |
| ENST00000686724.1:n.3321T>C (POMGNT1) | ||
| ENST00000686737.1:c.1634T>C (POMGNT1) | ENSP00000508736.1:p.Val545Ala | |
| ENST00000687112.1:n.2500T>C (POMGNT1) | ||
| ENST00000687149.1:c.1673T>C (POMGNT1) | ENSP00000509745.1:p.Val558Ala | |
| ENST00000687197.1:c.*574T>C (POMGNT1) | ENSP00000510749.1:n.*574T>C | |
| ENST00000687235.1:n.3711T>C (POMGNT1) | ||
| ENST00000687613.1:n.2290-499T>C (POMGNT1) | ||
| ENST00000687683.1:c.1634T>C (POMGNT1) | ENSP00000508522.1:p.Val545Ala | |
| ENST00000688032.1:n.2171T>C (POMGNT1) | ||
| ENST00000688596.1:n.2285T>C (POMGNT1) | ||
| ENST00000688608.1:c.1535T>C (POMGNT1) | ENSP00000508890.1:p.Val512Ala | |
| ENST00000688919.1:n.3032T>C (POMGNT1) | ||
| ENST00000689031.1:n.2102-499T>C (POMGNT1) | ||
| ENST00000689717.1:n.2008T>C (POMGNT1) | ||
| ENST00000689756.1:c.*1266T>C (POMGNT1) | ENSP00000509023.1:n.*1266T>C | |
| ENST00000690377.1:n.1981T>C (POMGNT1) | ||
| ENST00000690678.1:c.1634T>C (POMGNT1) | ENSP00000508703.1:p.Val545Ala | |
| ENST00000691209.1:c.*574T>C (POMGNT1) | ENSP00000510112.1:n.*574T>C | |
| ENST00000691243.1:c.*25T>C (POMGNT1) | ENSP00000510654.1:n.*25T>C | |
| ENST00000692169.1:n.3298T>C (POMGNT1) | ||
| ENST00000692202.1:n.2209T>C (POMGNT1) | ||
| ENST00000692322.1:c.*1421T>C (POMGNT1) | ENSP00000509017.1:n.*1421T>C | |
| ENST00000692369.1:c.1634T>C (POMGNT1) | ENSP00000508453.1:p.Val545Ala | |
| ENST00000692599.1:n.3509T>C (POMGNT1) | ||
| ENST00000692635.1:c.*509T>C (POMGNT1) | ENSP00000508425.1:n.*509T>C | |
| ENST00000693168.1:n.3410T>C (POMGNT1) | ||
| ENST00000693218.1:c.*195T>C (POMGNT1) | ENSP00000510577.1:n.*195T>C | |
| ENST00000693223.1:n.2582T>C (POMGNT1) | ||
| ENST00000693365.1:n.5783T>C (POMGNT1) | ||
| ENST00000371984.8:c.1634T>C (POMGNT1) MANE Select | ENSP00000361052.3:p.Val545Ala | |
| ENST00000371984.7:c.1634T>C (POMGNT1) | ENSP00000361052.3:p.Val545Ala | |
| ENST00000371992.1:c.1634T>C (POMGNT1) | ENSP00000361060.1:p.Val545Ala | |
| ENST00000396420.7:c.*1303T>C (POMGNT1) | ENSP00000379698.3:n.*1303T>C | |
| ENST00000480972.1:n.283T>C (POMGNT1) | ||
| ENST00000485714.1:n.2535T>C (POMGNT1) | ||
| NM_001243766.1:c.1634T>C (POMGNT1) | NP_001230695.1:p.Val545Ala | |
| NM_001290129.1:c.1568T>C (POMGNT1) | NP_001277058.1:p.Val523Ala | |
| NM_001290130.1:c.1205T>C (POMGNT1) | NP_001277059.1:p.Val402Ala | |
| NM_017739.3:c.1634T>C (POMGNT1) | NP_060209.3:p.Val545Ala | |
| XM_005271010.1:c.1634T>C (POMGNT1) | XP_005271067.1:p.Val545Ala | |
| XM_006710755.1:c.1634T>C (POMGNT1) | XP_006710818.1:p.Val545Ala | |
| XM_006710756.1:c.1634T>C (POMGNT1) | XP_006710819.1:p.Val545Ala | |
| XM_011540460.1:c.678+5180A>G (TSPAN1) | XP_011538762.1:n.678+5180A>G | |
| XM_011540461.1:c.633+5180A>G (TSPAN1) | XP_011538763.1:n.633+5180A>G | |
| XM_011541759.1:c.1568T>C (POMGNT1) | XP_011540061.1:p.Val523Ala | |
| XM_011541760.1:c.1568T>C (POMGNT1) | XP_011540062.1:p.Val523Ala | |
| XM_011541761.1:c.542T>C (POMGNT1) | XP_011540063.1:p.Val181Ala | |
| XM_011540460.3:c.678+5180A>G (TSPAN1) | XP_011538762.1:n.678+5180A>G | |
| XM_011541760.3:c.1568T>C (POMGNT1) | XP_011540062.1:p.Val523Ala | |
| XM_017001690.1:c.1634T>C (POMGNT1) | XP_016857179.1:p.Val545Ala | |
| NM_001243766.2:c.1634T>C (POMGNT1) | NP_001230695.2:p.Val545Ala | |
| NM_001290129.2:c.1568T>C (POMGNT1) | NP_001277058.2:p.Val523Ala | |
| NM_001290130.2:c.1205T>C (POMGNT1) | NP_001277059.2:p.Val402Ala | |
| NM_017739.4:c.1634T>C (POMGNT1) MANE Select | NP_060209.4:p.Val545Ala |