Linked Data
ClinVar Variation Id:
285324
dbSNP Id:
rs886043076
gnomAD v2:
1-46659037-C-A
gnomAD v4:
1-46193365-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46193365C>A , CM000663.2:g.46193365C>A | GRCh38 |
| NC_000001.10:g.46659037C>A , CM000663.1:g.46659037C>A | GRCh37 |
| NC_000001.9:g.46431624C>A | NCBI36 |
| NG_009205.2:g.31941G>T | |
| NG_009205.3:g.31941G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1050G>T (POMGNT1) | ENSP00000379698.4:p.Leu350= | |
| ENST00000477114.2:n.1612G>T (POMGNT1) | ||
| ENST00000497439.6:n.1222G>T (POMGNT1) | ||
| ENST00000684817.1:n.1410G>T (POMGNT1) | ||
| ENST00000684898.1:n.1612G>T (POMGNT1) | ||
| ENST00000685230.1:c.*360G>T (POMGNT1) | ENSP00000510305.1:n.*360G>T | |
| ENST00000685275.1:n.1597G>T (POMGNT1) | ||
| ENST00000685444.1:c.951G>T (POMGNT1) | ENSP00000510762.1:p.Leu317= | |
| ENST00000685704.1:n.1612G>T (POMGNT1) | ||
| ENST00000685775.1:n.2577G>T (POMGNT1) | ||
| ENST00000685833.1:n.1928G>T (POMGNT1) | ||
| ENST00000686252.1:n.2124G>T (POMGNT1) | ||
| ENST00000686379.1:c.*174G>T (POMGNT1) | ENSP00000508913.1:n.*174G>T | |
| ENST00000686724.1:n.1222G>T (POMGNT1) | ||
| ENST00000686737.1:c.1050G>T (POMGNT1) | ENSP00000508736.1:p.Leu350= | |
| ENST00000687112.1:n.1612G>T (POMGNT1) | ||
| ENST00000687149.1:c.1050G>T (POMGNT1) | ENSP00000509745.1:p.Leu350= | |
| ENST00000687197.1:c.974G>T (POMGNT1) | ENSP00000510749.1:p.Cys325Phe | |
| ENST00000687235.1:n.1612G>T (POMGNT1) | ||
| ENST00000687613.1:n.1800G>T (POMGNT1) | ||
| ENST00000687683.1:c.1050G>T (POMGNT1) | ENSP00000508522.1:p.Leu350= | |
| ENST00000688032.1:n.1612G>T (POMGNT1) | ||
| ENST00000688596.1:n.1397G>T (POMGNT1) | ||
| ENST00000688608.1:c.951G>T (POMGNT1) | ENSP00000508890.1:p.Leu317= | |
| ENST00000688919.1:n.2246G>T (POMGNT1) | ||
| ENST00000689031.1:n.1612G>T (POMGNT1) | ||
| ENST00000689717.1:n.1222G>T (POMGNT1) | ||
| ENST00000689756.1:c.*682G>T (POMGNT1) | ENSP00000509023.1:n.*682G>T | |
| ENST00000690377.1:n.1397G>T (POMGNT1) | ||
| ENST00000690678.1:c.1050G>T (POMGNT1) | ENSP00000508703.1:p.Leu350= | |
| ENST00000691209.1:c.974G>T (POMGNT1) | ENSP00000510112.1:p.Cys325Phe | |
| ENST00000691243.1:c.1050G>T (POMGNT1) | ENSP00000510654.1:p.Leu350= | |
| ENST00000692169.1:n.1199G>T (POMGNT1) | ||
| ENST00000692202.1:n.1625G>T (POMGNT1) | ||
| ENST00000692322.1:c.*902G>T (POMGNT1) | ENSP00000509017.1:n.*902G>T | |
| ENST00000692369.1:c.1050G>T (POMGNT1) | ENSP00000508453.1:p.Leu350= | |
| ENST00000692599.1:n.1612G>T (POMGNT1) | ||
| ENST00000692635.1:c.974G>T (POMGNT1) | ENSP00000508425.1:p.Cys325Phe | |
| ENST00000693168.1:n.1222G>T (POMGNT1) | ||
| ENST00000693218.1:c.1050G>T (POMGNT1) | ENSP00000510577.1:p.Leu350= | |
| ENST00000693223.1:n.1694G>T (POMGNT1) | ||
| ENST00000693365.1:n.3380G>T (POMGNT1) | ||
| ENST00000371984.8:c.1050G>T (POMGNT1) MANE Select | ENSP00000361052.3:p.Leu350= | |
| ENST00000371984.7:c.1050G>T (POMGNT1) | ENSP00000361052.3:p.Leu350= | |
| ENST00000371992.1:c.1050G>T (POMGNT1) | ENSP00000361060.1:p.Leu350= | |
| ENST00000396420.7:c.*719G>T (POMGNT1) | ENSP00000379698.3:n.*719G>T | |
| ENST00000485714.1:n.436G>T (POMGNT1) | ||
| NM_001243766.1:c.1050G>T (POMGNT1) | NP_001230695.1:p.Leu350= | |
| NM_001290129.1:c.984G>T (POMGNT1) | NP_001277058.1:p.Leu328= | |
| NM_001290130.1:c.621G>T (POMGNT1) | NP_001277059.1:p.Leu207= | |
| NM_017739.3:c.1050G>T (POMGNT1) | NP_060209.3:p.Leu350= | |
| XM_005271010.1:c.1050G>T (POMGNT1) | XP_005271067.1:p.Leu350= | |
| XM_006710755.1:c.1050G>T (POMGNT1) | XP_006710818.1:p.Leu350= | |
| XM_006710756.1:c.1050G>T (POMGNT1) | XP_006710819.1:p.Leu350= | |
| XM_011540460.1:c.679-2837C>A (TSPAN1) | XP_011538762.1:n.679-2837C>A | |
| XM_011540461.1:c.634-2837C>A (TSPAN1) | XP_011538763.1:n.634-2837C>A | |
| XM_011541759.1:c.984G>T (POMGNT1) | XP_011540061.1:p.Leu328= | |
| XM_011541760.1:c.984G>T (POMGNT1) | XP_011540062.1:p.Leu328= | |
| XM_011541761.1:c.-44G>T (POMGNT1) | XP_011540063.1:n.-44G>T | |
| XR_946706.1:n.1209G>T (POMGNT1) | ||
| XM_011540460.3:c.679-2837C>A (TSPAN1) | XP_011538762.1:n.679-2837C>A | |
| XM_011541760.3:c.984G>T (POMGNT1) | XP_011540062.1:p.Leu328= | |
| XM_017001690.1:c.1050G>T (POMGNT1) | XP_016857179.1:p.Leu350= | |
| NM_001243766.2:c.1050G>T (POMGNT1) | NP_001230695.2:p.Leu350= | |
| NM_001290129.2:c.984G>T (POMGNT1) | NP_001277058.2:p.Leu328= | |
| NM_001290130.2:c.621G>T (POMGNT1) | NP_001277059.2:p.Leu207= | |
| NM_017739.4:c.1050G>T (POMGNT1) MANE Select | NP_060209.4:p.Leu350= |