Linked Data
dbSNP Id:
rs750115605
ExAC:
1:46655652 C / G
gnomAD v2:
1-46655652-C-G
gnomAD v4:
1-46189980-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189980C>G , CM000663.2:g.46189980C>G | GRCh38 |
| NC_000001.10:g.46655652C>G , CM000663.1:g.46655652C>G | GRCh37 |
| NC_000001.9:g.46428239C>G | NCBI36 |
| NG_009205.2:g.35326G>C | |
| NG_009205.3:g.35326G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1659G>C (POMGNT1) | ENSP00000379698.4:p.Glu553Asp | |
| ENST00000497439.6:n.1831G>C (POMGNT1) | ||
| ENST00000684817.1:n.2019G>C (POMGNT1) | ||
| ENST00000684898.1:n.2221G>C (POMGNT1) | ||
| ENST00000685230.1:c.*969G>C (POMGNT1) | ENSP00000510305.1:n.*969G>C | |
| ENST00000685275.1:n.2206G>C (POMGNT1) | ||
| ENST00000685444.1:c.1560G>C (POMGNT1) | ENSP00000510762.1:p.Glu520Asp | |
| ENST00000685704.1:n.2325G>C (POMGNT1) | ||
| ENST00000685833.1:n.4052G>C (POMGNT1) | ||
| ENST00000686252.1:n.2733G>C (POMGNT1) | ||
| ENST00000686379.1:c.*783G>C (POMGNT1) | ENSP00000508913.1:n.*783G>C | |
| ENST00000686724.1:n.3346G>C (POMGNT1) | ||
| ENST00000686737.1:c.1659G>C (POMGNT1) | ENSP00000508736.1:p.Glu553Asp | |
| ENST00000687112.1:n.2525G>C (POMGNT1) | ||
| ENST00000687149.1:c.1698G>C (POMGNT1) | ENSP00000509745.1:p.Glu566Asp | |
| ENST00000687197.1:c.*599G>C (POMGNT1) | ENSP00000510749.1:n.*599G>C | |
| ENST00000687235.1:n.3736G>C (POMGNT1) | ||
| ENST00000687613.1:n.2299G>C (POMGNT1) | ||
| ENST00000687683.1:c.1659G>C (POMGNT1) | ENSP00000508522.1:p.Glu553Asp | |
| ENST00000688032.1:n.2196G>C (POMGNT1) | ||
| ENST00000688596.1:n.2310G>C (POMGNT1) | ||
| ENST00000688608.1:c.1560G>C (POMGNT1) | ENSP00000508890.1:p.Glu520Asp | |
| ENST00000689031.1:n.2111G>C (POMGNT1) | ||
| ENST00000689756.1:c.*1291G>C (POMGNT1) | ENSP00000509023.1:n.*1291G>C | |
| ENST00000690377.1:n.2006G>C (POMGNT1) | ||
| ENST00000690678.1:c.1659G>C (POMGNT1) | ENSP00000508703.1:p.Glu553Asp | |
| ENST00000691209.1:c.*599G>C (POMGNT1) | ENSP00000510112.1:n.*599G>C | |
| ENST00000691243.1:c.*50G>C (POMGNT1) | ENSP00000510654.1:n.*50G>C | |
| ENST00000692202.1:n.2234G>C (POMGNT1) | ||
| ENST00000692322.1:c.*1446G>C (POMGNT1) | ENSP00000509017.1:n.*1446G>C | |
| ENST00000692369.1:c.1659G>C (POMGNT1) | ENSP00000508453.1:p.Glu553Asp | |
| ENST00000692599.1:n.3534G>C (POMGNT1) | ||
| ENST00000692635.1:c.*534G>C (POMGNT1) | ENSP00000508425.1:n.*534G>C | |
| ENST00000693168.1:n.3435G>C (POMGNT1) | ||
| ENST00000693218.1:c.*220G>C (POMGNT1) | ENSP00000510577.1:n.*220G>C | |
| ENST00000693223.1:n.2607G>C (POMGNT1) | ||
| ENST00000371984.8:c.1659G>C (POMGNT1) MANE Select | ENSP00000361052.3:p.Glu553Asp | |
| ENST00000371984.7:c.1659G>C (POMGNT1) | ENSP00000361052.3:p.Glu553Asp | |
| ENST00000371992.1:c.1659G>C (POMGNT1) | ENSP00000361060.1:p.Glu553Asp | |
| ENST00000396420.7:c.*1328G>C (POMGNT1) | ENSP00000379698.3:n.*1328G>C | |
| ENST00000480972.1:n.308G>C (POMGNT1) | ||
| NM_001243766.1:c.1659G>C (POMGNT1) | NP_001230695.1:p.Glu553Asp | |
| NM_001290129.1:c.1593G>C (POMGNT1) | NP_001277058.1:p.Glu531Asp | |
| NM_001290130.1:c.1230G>C (POMGNT1) | NP_001277059.1:p.Glu410Asp | |
| NM_017739.3:c.1659G>C (POMGNT1) | NP_060209.3:p.Glu553Asp | |
| XM_005271010.1:c.1659G>C (POMGNT1) | XP_005271067.1:p.Glu553Asp | |
| XM_006710755.1:c.1659G>C (POMGNT1) | XP_006710818.1:p.Glu553Asp | |
| XM_006710756.1:c.1659G>C (POMGNT1) | XP_006710819.1:p.Glu553Asp | |
| XM_011540460.1:c.678+4672C>G (TSPAN1) | XP_011538762.1:n.678+4672C>G | |
| XM_011540461.1:c.633+4672C>G (TSPAN1) | XP_011538763.1:n.633+4672C>G | |
| XM_011541759.1:c.1593G>C (POMGNT1) | XP_011540061.1:p.Glu531Asp | |
| XM_011541760.1:c.1593G>C (POMGNT1) | XP_011540062.1:p.Glu531Asp | |
| XM_011541761.1:c.567G>C (POMGNT1) | XP_011540063.1:p.Glu189Asp | |
| XM_011540460.3:c.678+4672C>G (TSPAN1) | XP_011538762.1:n.678+4672C>G | |
| XM_011541760.3:c.1593G>C (POMGNT1) | XP_011540062.1:p.Glu531Asp | |
| XM_017001690.1:c.1659G>C (POMGNT1) | XP_016857179.1:p.Glu553Asp | |
| NM_001243766.2:c.1659G>C (POMGNT1) | NP_001230695.2:p.Glu553Asp | |
| NM_001290129.2:c.1593G>C (POMGNT1) | NP_001277058.2:p.Glu531Asp | |
| NM_001290130.2:c.1230G>C (POMGNT1) | NP_001277059.2:p.Glu410Asp | |
| NM_017739.4:c.1659G>C (POMGNT1) MANE Select | NP_060209.4:p.Glu553Asp |