Linked Data
ClinVar Variation Id:
56582
ClinVar RCV Id:
RCV000049995
RCV000153760
RCV000323217
RCV000501155
RCV000648199
RCV000763345
RCV000983990
RCV001030748
RCV001196668
RCV001269143
RCV002514263
RCV002295277
RCV002470740
dbSNP Id:
rs138642840
ExAC:
1:46657769 C / T
gnomAD v2:
1-46657769-C-T
gnomAD v3:
1-46192097-C-T
gnomAD v4:
1-46192097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192097C>T , CM000663.2:g.46192097C>T | GRCh38 |
| NC_000001.10:g.46657769C>T , CM000663.1:g.46657769C>T | GRCh37 |
| NC_000001.9:g.46430356C>T | NCBI36 |
| NG_009205.2:g.33209G>A | |
| NG_009205.3:g.33209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1539+1G>A (POMGNT1) | ENSP00000379698.4:n.1539+1G>A | |
| ENST00000477114.2:n.2101+1G>A (POMGNT1) | ||
| ENST00000497439.6:n.1711+1G>A (POMGNT1) | ||
| ENST00000684817.1:n.1899+1G>A (POMGNT1) | ||
| ENST00000684898.1:n.2101+1G>A (POMGNT1) | ||
| ENST00000685230.1:c.*849+1G>A (POMGNT1) | ENSP00000510305.1:n.*849+1G>A | |
| ENST00000685275.1:n.2086+1G>A (POMGNT1) | ||
| ENST00000685444.1:c.1440+1G>A (POMGNT1) | ENSP00000510762.1:n.1440+1G>A | |
| ENST00000685704.1:n.2101+1G>A (POMGNT1) | ||
| ENST00000685775.1:n.3067G>A (POMGNT1) | ||
| ENST00000685833.1:n.2418G>A (POMGNT1) | ||
| ENST00000686252.1:n.2613+1G>A (POMGNT1) | ||
| ENST00000686379.1:c.*663+1G>A (POMGNT1) | ENSP00000508913.1:n.*663+1G>A | |
| ENST00000686724.1:n.1712G>A (POMGNT1) | ||
| ENST00000686737.1:c.1539+1G>A (POMGNT1) | ENSP00000508736.1:n.1539+1G>A | |
| ENST00000687112.1:n.2405+1G>A (POMGNT1) | ||
| ENST00000687149.1:c.1539+1G>A (POMGNT1) | ENSP00000509745.1:n.1539+1G>A | |
| ENST00000687197.1:c.*479+1G>A (POMGNT1) | ENSP00000510749.1:n.*479+1G>A | |
| ENST00000687235.1:n.2102G>A (POMGNT1) | ||
| ENST00000687613.1:n.2289+1G>A (POMGNT1) | ||
| ENST00000687683.1:c.1539+1G>A (POMGNT1) | ENSP00000508522.1:n.1539+1G>A | |
| ENST00000688032.1:n.2101+1G>A (POMGNT1) | ||
| ENST00000688596.1:n.2190+1G>A (POMGNT1) | ||
| ENST00000688608.1:c.1440+1G>A (POMGNT1) | ENSP00000508890.1:n.1440+1G>A | |
| ENST00000688919.1:n.2735+1G>A (POMGNT1) | ||
| ENST00000689031.1:n.2101+1G>A (POMGNT1) | ||
| ENST00000689717.1:n.1711+1G>A (POMGNT1) | ||
| ENST00000689756.1:c.*1171+1G>A (POMGNT1) | ENSP00000509023.1:n.*1171+1G>A | |
| ENST00000690377.1:n.1886+1G>A (POMGNT1) | ||
| ENST00000690678.1:c.1539+1G>A (POMGNT1) | ENSP00000508703.1:n.1539+1G>A | |
| ENST00000691209.1:c.*479+1G>A (POMGNT1) | ENSP00000510112.1:n.*479+1G>A | |
| ENST00000691243.1:c.1539+1G>A (POMGNT1) | ENSP00000510654.1:n.1539+1G>A | |
| ENST00000692169.1:n.1689G>A (POMGNT1) | ||
| ENST00000692202.1:n.2114+1G>A (POMGNT1) | ||
| ENST00000692322.1:c.*1391+1G>A (POMGNT1) | ENSP00000509017.1:n.*1391+1G>A | |
| ENST00000692369.1:c.1539+1G>A (POMGNT1) | ENSP00000508453.1:n.1539+1G>A | |
| ENST00000692599.1:n.2102G>A (POMGNT1) | ||
| ENST00000692635.1:c.*479+1G>A (POMGNT1) | ENSP00000508425.1:n.*479+1G>A | |
| ENST00000693168.1:n.1801G>A (POMGNT1) | ||
| ENST00000693218.1:c.1539+1G>A (POMGNT1) | ENSP00000510577.1:n.1539+1G>A | |
| ENST00000693223.1:n.2487+1G>A (POMGNT1) | ||
| ENST00000693365.1:n.4174G>A (POMGNT1) | ||
| ENST00000371984.8:c.1539+1G>A (POMGNT1) MANE Select | ENSP00000361052.3:n.1539+1G>A | |
| ENST00000371984.7:c.1539+1G>A (POMGNT1) | ENSP00000361052.3:n.1539+1G>A | |
| ENST00000371992.1:c.1539+1G>A (POMGNT1) | ENSP00000361060.1:n.1539+1G>A | |
| ENST00000396420.7:c.*1208+1G>A (POMGNT1) | ENSP00000379698.3:n.*1208+1G>A | |
| ENST00000463030.1:n.161G>A (POMGNT1) | ||
| ENST00000485714.1:n.926G>A (POMGNT1) | ||
| NM_001243766.1:c.1539+1G>A (POMGNT1) | NP_001230695.1:n.1539+1G>A | |
| NM_001290129.1:c.1473+1G>A (POMGNT1) | NP_001277058.1:n.1473+1G>A | |
| NM_001290130.1:c.1110+1G>A (POMGNT1) | NP_001277059.1:n.1110+1G>A | |
| NM_017739.3:c.1539+1G>A (POMGNT1) | NP_060209.3:n.1539+1G>A | |
| XM_005271010.1:c.1539+1G>A (POMGNT1) | XP_005271067.1:n.1539+1G>A | |
| XM_006710755.1:c.1539+1G>A (POMGNT1) | XP_006710818.1:n.1539+1G>A | |
| XM_006710756.1:c.1539+1G>A (POMGNT1) | XP_006710819.1:n.1539+1G>A | |
| XM_011540460.1:c.679-4105C>T (TSPAN1) | XP_011538762.1:n.679-4105C>T | |
| XM_011540461.1:c.634-4105C>T (TSPAN1) | XP_011538763.1:n.634-4105C>T | |
| XM_011541759.1:c.1473+1G>A (POMGNT1) | XP_011540061.1:n.1473+1G>A | |
| XM_011541760.1:c.1473+1G>A (POMGNT1) | XP_011540062.1:n.1473+1G>A | |
| XM_011541761.1:c.447+1G>A (POMGNT1) | XP_011540063.1:n.447+1G>A | |
| XM_011540460.3:c.679-4105C>T (TSPAN1) | XP_011538762.1:n.679-4105C>T | |
| XM_011541760.3:c.1473+1G>A (POMGNT1) | XP_011540062.1:n.1473+1G>A | |
| XM_017001690.1:c.1539+1G>A (POMGNT1) | XP_016857179.1:n.1539+1G>A | |
| NM_001243766.2:c.1539+1G>A (POMGNT1) | NP_001230695.2:n.1539+1G>A | |
| NM_001290129.2:c.1473+1G>A (POMGNT1) | NP_001277058.2:n.1473+1G>A | |
| NM_001290130.2:c.1110+1G>A (POMGNT1) | NP_001277059.2:n.1110+1G>A | |
| NM_017739.4:c.1539+1G>A (POMGNT1) MANE Select | NP_060209.4:n.1539+1G>A |