Linked Data
ClinVar Variation Id:
665448
dbSNP Id:
rs727504103
ExAC:
1:46657847 G / A
gnomAD v2:
1-46657847-G-A
gnomAD v4:
1-46192175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192175G>A , CM000663.2:g.46192175G>A | GRCh38 |
| NC_000001.10:g.46657847G>A , CM000663.1:g.46657847G>A | GRCh37 |
| NC_000001.9:g.46430434G>A | NCBI36 |
| NG_009205.2:g.33131C>T | |
| NG_009205.3:g.33131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1462C>T (POMGNT1) | ENSP00000379698.4:p.Arg488Ter | |
| ENST00000477114.2:n.2024C>T (POMGNT1) | ||
| ENST00000497439.6:n.1634C>T (POMGNT1) | ||
| ENST00000684817.1:n.1822C>T (POMGNT1) | ||
| ENST00000684898.1:n.2024C>T (POMGNT1) | ||
| ENST00000685230.1:c.*772C>T (POMGNT1) | ENSP00000510305.1:n.*772C>T | |
| ENST00000685275.1:n.2009C>T (POMGNT1) | ||
| ENST00000685444.1:c.1363C>T (POMGNT1) | ENSP00000510762.1:p.Arg455Ter | |
| ENST00000685704.1:n.2024C>T (POMGNT1) | ||
| ENST00000685775.1:n.2989C>T (POMGNT1) | ||
| ENST00000685833.1:n.2340C>T (POMGNT1) | ||
| ENST00000686252.1:n.2536C>T (POMGNT1) | ||
| ENST00000686379.1:c.*586C>T (POMGNT1) | ENSP00000508913.1:n.*586C>T | |
| ENST00000686724.1:n.1634C>T (POMGNT1) | ||
| ENST00000686737.1:c.1462C>T (POMGNT1) | ENSP00000508736.1:p.Arg488Ter | |
| ENST00000687112.1:n.2328C>T (POMGNT1) | ||
| ENST00000687149.1:c.1462C>T (POMGNT1) | ENSP00000509745.1:p.Arg488Ter | |
| ENST00000687197.1:c.*402C>T (POMGNT1) | ENSP00000510749.1:n.*402C>T | |
| ENST00000687235.1:n.2024C>T (POMGNT1) | ||
| ENST00000687613.1:n.2212C>T (POMGNT1) | ||
| ENST00000687683.1:c.1462C>T (POMGNT1) | ENSP00000508522.1:p.Arg488Ter | |
| ENST00000688032.1:n.2024C>T (POMGNT1) | ||
| ENST00000688596.1:n.2113C>T (POMGNT1) | ||
| ENST00000688608.1:c.1363C>T (POMGNT1) | ENSP00000508890.1:p.Arg455Ter | |
| ENST00000688919.1:n.2658C>T (POMGNT1) | ||
| ENST00000689031.1:n.2024C>T (POMGNT1) | ||
| ENST00000689717.1:n.1634C>T (POMGNT1) | ||
| ENST00000689756.1:c.*1094C>T (POMGNT1) | ENSP00000509023.1:n.*1094C>T | |
| ENST00000690377.1:n.1809C>T (POMGNT1) | ||
| ENST00000690678.1:c.1462C>T (POMGNT1) | ENSP00000508703.1:p.Arg488Ter | |
| ENST00000691209.1:c.*402C>T (POMGNT1) | ENSP00000510112.1:n.*402C>T | |
| ENST00000691243.1:c.1462C>T (POMGNT1) | ENSP00000510654.1:p.Arg488Ter | |
| ENST00000692169.1:n.1611C>T (POMGNT1) | ||
| ENST00000692202.1:n.2037C>T (POMGNT1) | ||
| ENST00000692322.1:c.*1314C>T (POMGNT1) | ENSP00000509017.1:n.*1314C>T | |
| ENST00000692369.1:c.1462C>T (POMGNT1) | ENSP00000508453.1:p.Arg488Ter | |
| ENST00000692599.1:n.2024C>T (POMGNT1) | ||
| ENST00000692635.1:c.*402C>T (POMGNT1) | ENSP00000508425.1:n.*402C>T | |
| ENST00000693168.1:n.1723C>T (POMGNT1) | ||
| ENST00000693218.1:c.1462C>T (POMGNT1) | ENSP00000510577.1:p.Arg488Ter | |
| ENST00000693223.1:n.2410C>T (POMGNT1) | ||
| ENST00000693365.1:n.4096C>T (POMGNT1) | ||
| ENST00000371984.8:c.1462C>T (POMGNT1) MANE Select | ENSP00000361052.3:p.Arg488Ter | |
| ENST00000371984.7:c.1462C>T (POMGNT1) | ENSP00000361052.3:p.Arg488Ter | |
| ENST00000371992.1:c.1462C>T (POMGNT1) | ENSP00000361060.1:p.Arg488Ter | |
| ENST00000396420.7:c.*1131C>T (POMGNT1) | ENSP00000379698.3:n.*1131C>T | |
| ENST00000463030.1:n.83C>T (POMGNT1) | ||
| ENST00000485714.1:n.848C>T (POMGNT1) | ||
| NM_001243766.1:c.1462C>T (POMGNT1) | NP_001230695.1:p.Arg488Ter | |
| NM_001290129.1:c.1396C>T (POMGNT1) | NP_001277058.1:p.Arg466Ter | |
| NM_001290130.1:c.1033C>T (POMGNT1) | NP_001277059.1:p.Arg345Ter | |
| NM_017739.3:c.1462C>T (POMGNT1) | NP_060209.3:p.Arg488Ter | |
| XM_005271010.1:c.1462C>T (POMGNT1) | XP_005271067.1:p.Arg488Ter | |
| XM_006710755.1:c.1462C>T (POMGNT1) | XP_006710818.1:p.Arg488Ter | |
| XM_006710756.1:c.1462C>T (POMGNT1) | XP_006710819.1:p.Arg488Ter | |
| XM_011540460.1:c.679-4027G>A (TSPAN1) | XP_011538762.1:n.679-4027G>A | |
| XM_011540461.1:c.634-4027G>A (TSPAN1) | XP_011538763.1:n.634-4027G>A | |
| XM_011541759.1:c.1396C>T (POMGNT1) | XP_011540061.1:p.Arg466Ter | |
| XM_011541760.1:c.1396C>T (POMGNT1) | XP_011540062.1:p.Arg466Ter | |
| XM_011541761.1:c.370C>T (POMGNT1) | XP_011540063.1:p.Arg124Ter | |
| XR_946706.1:n.1622C>T (POMGNT1) | ||
| XM_011540460.3:c.679-4027G>A (TSPAN1) | XP_011538762.1:n.679-4027G>A | |
| XM_011541760.3:c.1396C>T (POMGNT1) | XP_011540062.1:p.Arg466Ter | |
| XM_017001690.1:c.1462C>T (POMGNT1) | XP_016857179.1:p.Arg488Ter | |
| NM_001243766.2:c.1462C>T (POMGNT1) | NP_001230695.2:p.Arg488Ter | |
| NM_001290129.2:c.1396C>T (POMGNT1) | NP_001277058.2:p.Arg466Ter | |
| NM_001290130.2:c.1033C>T (POMGNT1) | NP_001277059.2:p.Arg345Ter | |
| NM_017739.4:c.1462C>T (POMGNT1) MANE Select | NP_060209.4:p.Arg488Ter |