Linked Data
ClinVar Variation Id:
297533
dbSNP Id:
rs770449394
ExAC:
1:46656462 G / A
gnomAD v2:
1-46656462-G-A
gnomAD v3:
1-46190790-G-A
gnomAD v4:
1-46190790-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46190790G>A , CM000663.2:g.46190790G>A | GRCh38 |
| NC_000001.10:g.46656462G>A , CM000663.1:g.46656462G>A | GRCh37 |
| NC_000001.9:g.46429049G>A | NCBI36 |
| NG_009205.2:g.34516C>T | |
| NG_009205.3:g.34516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1540-6C>T (POMGNT1) | ENSP00000379698.4:n.1540-6C>T | |
| ENST00000477114.2:n.2102-6C>T (POMGNT1) | ||
| ENST00000497439.6:n.1712-6C>T (POMGNT1) | ||
| ENST00000684817.1:n.1900-6C>T (POMGNT1) | ||
| ENST00000684898.1:n.2102-6C>T (POMGNT1) | ||
| ENST00000685230.1:c.*850-6C>T (POMGNT1) | ENSP00000510305.1:n.*850-6C>T | |
| ENST00000685275.1:n.2087-6C>T (POMGNT1) | ||
| ENST00000685444.1:c.1441-6C>T (POMGNT1) | ENSP00000510762.1:n.1441-6C>T | |
| ENST00000685704.1:n.2102-6C>T (POMGNT1) | ||
| ENST00000685775.1:n.4374C>T (POMGNT1) | ||
| ENST00000685833.1:n.3725C>T (POMGNT1) | ||
| ENST00000686252.1:n.2614-6C>T (POMGNT1) | ||
| ENST00000686379.1:c.*664-6C>T (POMGNT1) | ENSP00000508913.1:n.*664-6C>T | |
| ENST00000686724.1:n.3019C>T (POMGNT1) | ||
| ENST00000686737.1:c.1540-6C>T (POMGNT1) | ENSP00000508736.1:n.1540-6C>T | |
| ENST00000687112.1:n.2406-6C>T (POMGNT1) | ||
| ENST00000687149.1:c.1540-169C>T (POMGNT1) | ENSP00000509745.1:n.1540-169C>T | |
| ENST00000687197.1:c.*480-6C>T (POMGNT1) | ENSP00000510749.1:n.*480-6C>T | |
| ENST00000687235.1:n.3409C>T (POMGNT1) | ||
| ENST00000687613.1:n.2290-801C>T (POMGNT1) | ||
| ENST00000687683.1:c.1540-6C>T (POMGNT1) | ENSP00000508522.1:n.1540-6C>T | |
| ENST00000688032.1:n.2102-6C>T (POMGNT1) | ||
| ENST00000688596.1:n.2191-6C>T (POMGNT1) | ||
| ENST00000688608.1:c.1441-6C>T (POMGNT1) | ENSP00000508890.1:n.1441-6C>T | |
| ENST00000688919.1:n.2736-6C>T (POMGNT1) | ||
| ENST00000689031.1:n.2102-801C>T (POMGNT1) | ||
| ENST00000689717.1:n.1712-6C>T (POMGNT1) | ||
| ENST00000689756.1:c.*1172-6C>T (POMGNT1) | ENSP00000509023.1:n.*1172-6C>T | |
| ENST00000690377.1:n.1887-6C>T (POMGNT1) | ||
| ENST00000690678.1:c.1540-6C>T (POMGNT1) | ENSP00000508703.1:n.1540-6C>T | |
| ENST00000691209.1:c.*480-6C>T (POMGNT1) | ENSP00000510112.1:n.*480-6C>T | |
| ENST00000691243.1:c.1540-6C>T (POMGNT1) | ENSP00000510654.1:n.1540-6C>T | |
| ENST00000692169.1:n.2996C>T (POMGNT1) | ||
| ENST00000692202.1:n.2115-6C>T (POMGNT1) | ||
| ENST00000692322.1:c.*1392-273C>T (POMGNT1) | ENSP00000509017.1:n.*1392-273C>T | |
| ENST00000692369.1:c.1540-6C>T (POMGNT1) | ENSP00000508453.1:n.1540-6C>T | |
| ENST00000692599.1:n.3409C>T (POMGNT1) | ||
| ENST00000692635.1:c.*480-273C>T (POMGNT1) | ENSP00000508425.1:n.*480-273C>T | |
| ENST00000693168.1:n.3108C>T (POMGNT1) | ||
| ENST00000693218.1:c.1540-6C>T (POMGNT1) | ENSP00000510577.1:n.1540-6C>T | |
| ENST00000693223.1:n.2488-6C>T (POMGNT1) | ||
| ENST00000693365.1:n.5481C>T (POMGNT1) | ||
| ENST00000371984.8:c.1540-6C>T (POMGNT1) MANE Select | ENSP00000361052.3:n.1540-6C>T | |
| ENST00000371984.7:c.1540-6C>T (POMGNT1) | ENSP00000361052.3:n.1540-6C>T | |
| ENST00000371992.1:c.1540-6C>T (POMGNT1) | ENSP00000361060.1:n.1540-6C>T | |
| ENST00000396420.7:c.*1209-6C>T (POMGNT1) | ENSP00000379698.3:n.*1209-6C>T | |
| ENST00000480972.1:n.183C>T (POMGNT1) | ||
| ENST00000485714.1:n.2233C>T (POMGNT1) | ||
| NM_001243766.1:c.1540-6C>T (POMGNT1) | NP_001230695.1:n.1540-6C>T | |
| NM_001290129.1:c.1474-6C>T (POMGNT1) | NP_001277058.1:n.1474-6C>T | |
| NM_001290130.1:c.1111-6C>T (POMGNT1) | NP_001277059.1:n.1111-6C>T | |
| NM_017739.3:c.1540-6C>T (POMGNT1) | NP_060209.3:n.1540-6C>T | |
| XM_005271010.1:c.1540-6C>T (POMGNT1) | XP_005271067.1:n.1540-6C>T | |
| XM_006710755.1:c.1540-6C>T (POMGNT1) | XP_006710818.1:n.1540-6C>T | |
| XM_006710756.1:c.1540-6C>T (POMGNT1) | XP_006710819.1:n.1540-6C>T | |
| XM_011540460.1:c.679-5412G>A (TSPAN1) | XP_011538762.1:n.679-5412G>A | |
| XM_011540461.1:c.634-5412G>A (TSPAN1) | XP_011538763.1:n.634-5412G>A | |
| XM_011541759.1:c.1474-6C>T (POMGNT1) | XP_011540061.1:n.1474-6C>T | |
| XM_011541760.1:c.1474-6C>T (POMGNT1) | XP_011540062.1:n.1474-6C>T | |
| XM_011541761.1:c.448-6C>T (POMGNT1) | XP_011540063.1:n.448-6C>T | |
| XM_011540460.3:c.679-5412G>A (TSPAN1) | XP_011538762.1:n.679-5412G>A | |
| XM_011541760.3:c.1474-6C>T (POMGNT1) | XP_011540062.1:n.1474-6C>T | |
| XM_017001690.1:c.1540-6C>T (POMGNT1) | XP_016857179.1:n.1540-6C>T | |
| NM_001243766.2:c.1540-6C>T (POMGNT1) | NP_001230695.2:n.1540-6C>T | |
| NM_001290129.2:c.1474-6C>T (POMGNT1) | NP_001277058.2:n.1474-6C>T | |
| NM_001290130.2:c.1111-6C>T (POMGNT1) | NP_001277059.2:n.1111-6C>T | |
| NM_017739.4:c.1540-6C>T (POMGNT1) MANE Select | NP_060209.4:n.1540-6C>T |