Linked Data
ClinVar Variation Id:
56587
dbSNP Id:
rs386834019
gnomAD v2:
1-46655542-C-T
gnomAD v3:
1-46189870-C-T
gnomAD v4:
1-46189870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189870C>T , CM000663.2:g.46189870C>T | GRCh38 |
| NC_000001.10:g.46655542C>T , CM000663.1:g.46655542C>T | GRCh37 |
| NC_000001.9:g.46428129C>T | NCBI36 |
| NG_009205.2:g.35436G>A | |
| NG_009205.3:g.35436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1769G>A (POMGNT1) | ENSP00000379698.4:p.Trp590Ter | |
| ENST00000497439.6:n.1941G>A (POMGNT1) | ||
| ENST00000684817.1:n.2129G>A (POMGNT1) | ||
| ENST00000684898.1:n.2331G>A (POMGNT1) | ||
| ENST00000685230.1:c.*1079G>A (POMGNT1) | ENSP00000510305.1:n.*1079G>A | |
| ENST00000685275.1:n.2316G>A (POMGNT1) | ||
| ENST00000685444.1:c.1670G>A (POMGNT1) | ENSP00000510762.1:p.Trp557Ter | |
| ENST00000685704.1:n.2435G>A (POMGNT1) | ||
| ENST00000685833.1:n.4162G>A (POMGNT1) | ||
| ENST00000686252.1:n.2843G>A (POMGNT1) | ||
| ENST00000686379.1:c.*893G>A (POMGNT1) | ENSP00000508913.1:n.*893G>A | |
| ENST00000686724.1:n.3456G>A (POMGNT1) | ||
| ENST00000686737.1:c.1769G>A (POMGNT1) | ENSP00000508736.1:p.Trp590Ter | |
| ENST00000687112.1:n.2635G>A (POMGNT1) | ||
| ENST00000687149.1:c.1808G>A (POMGNT1) | ENSP00000509745.1:p.Trp603Ter | |
| ENST00000687197.1:c.*709G>A (POMGNT1) | ENSP00000510749.1:n.*709G>A | |
| ENST00000687235.1:n.3846G>A (POMGNT1) | ||
| ENST00000687613.1:n.2409G>A (POMGNT1) | ||
| ENST00000687683.1:c.1769G>A (POMGNT1) | ENSP00000508522.1:p.Trp590Ter | |
| ENST00000688032.1:n.2306G>A (POMGNT1) | ||
| ENST00000688596.1:n.2420G>A (POMGNT1) | ||
| ENST00000688608.1:c.1670G>A (POMGNT1) | ENSP00000508890.1:p.Trp557Ter | |
| ENST00000689031.1:n.2221G>A (POMGNT1) | ||
| ENST00000689756.1:c.*1401G>A (POMGNT1) | ENSP00000509023.1:n.*1401G>A | |
| ENST00000690377.1:n.2116G>A (POMGNT1) | ||
| ENST00000690678.1:c.1769G>A (POMGNT1) | ENSP00000508703.1:p.Trp590Ter | |
| ENST00000691209.1:c.*709G>A (POMGNT1) | ENSP00000510112.1:n.*709G>A | |
| ENST00000691243.1:c.*160G>A (POMGNT1) | ENSP00000510654.1:n.*160G>A | |
| ENST00000692202.1:n.2344G>A (POMGNT1) | ||
| ENST00000692322.1:c.*1556G>A (POMGNT1) | ENSP00000509017.1:n.*1556G>A | |
| ENST00000692369.1:c.1769G>A (POMGNT1) | ENSP00000508453.1:p.Trp590Ter | |
| ENST00000692599.1:n.3644G>A (POMGNT1) | ||
| ENST00000692635.1:c.*644G>A (POMGNT1) | ENSP00000508425.1:n.*644G>A | |
| ENST00000693168.1:n.3545G>A (POMGNT1) | ||
| ENST00000693218.1:c.*330G>A (POMGNT1) | ENSP00000510577.1:n.*330G>A | |
| ENST00000693223.1:n.2717G>A (POMGNT1) | ||
| ENST00000371984.8:c.1769G>A (POMGNT1) MANE Select | ENSP00000361052.3:p.Trp590Ter | |
| ENST00000371984.7:c.1769G>A (POMGNT1) | ENSP00000361052.3:p.Trp590Ter | |
| ENST00000371992.1:c.1769G>A (POMGNT1) | ENSP00000361060.1:p.Trp590Ter | |
| ENST00000396420.7:c.*1438G>A (POMGNT1) | ENSP00000379698.3:n.*1438G>A | |
| ENST00000480972.1:n.418G>A (POMGNT1) | ||
| NM_001243766.1:c.1769G>A (POMGNT1) | NP_001230695.1:p.Trp590Ter | |
| NM_001290129.1:c.1703G>A (POMGNT1) | NP_001277058.1:p.Trp568Ter | |
| NM_001290130.1:c.1340G>A (POMGNT1) | NP_001277059.1:p.Trp447Ter | |
| NM_017739.3:c.1769G>A (POMGNT1) | NP_060209.3:p.Trp590Ter | |
| XM_005271010.1:c.1769G>A (POMGNT1) | XP_005271067.1:p.Trp590Ter | |
| XM_006710755.1:c.1769G>A (POMGNT1) | XP_006710818.1:p.Trp590Ter | |
| XM_006710756.1:c.1769G>A (POMGNT1) | XP_006710819.1:p.Trp590Ter | |
| XM_011540460.1:c.678+4562C>T (TSPAN1) | XP_011538762.1:n.678+4562C>T | |
| XM_011540461.1:c.633+4562C>T (TSPAN1) | XP_011538763.1:n.633+4562C>T | |
| XM_011541759.1:c.1703G>A (POMGNT1) | XP_011540061.1:p.Trp568Ter | |
| XM_011541760.1:c.1703G>A (POMGNT1) | XP_011540062.1:p.Trp568Ter | |
| XM_011541761.1:c.677G>A (POMGNT1) | XP_011540063.1:p.Trp226Ter | |
| XM_011540460.3:c.678+4562C>T (TSPAN1) | XP_011538762.1:n.678+4562C>T | |
| XM_011541760.3:c.1703G>A (POMGNT1) | XP_011540062.1:p.Trp568Ter | |
| XM_017001690.1:c.1769G>A (POMGNT1) | XP_016857179.1:p.Trp590Ter | |
| NM_001243766.2:c.1769G>A (POMGNT1) | NP_001230695.2:p.Trp590Ter | |
| NM_001290129.2:c.1703G>A (POMGNT1) | NP_001277058.2:p.Trp568Ter | |
| NM_001290130.2:c.1340G>A (POMGNT1) | NP_001277059.2:p.Trp447Ter | |
| NM_017739.4:c.1769G>A (POMGNT1) MANE Select | NP_060209.4:p.Trp590Ter |