Linked Data
ClinVar Variation Id:
56588
ClinVar RCV Id:
RCV000050001
dbSNP Id:
rs386834020
PubMed:
PMID:17878207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189852A>C , CM000663.2:g.46189852A>C | GRCh38 |
| NC_000001.10:g.46655524A>C , CM000663.1:g.46655524A>C | GRCh37 |
| NC_000001.9:g.46428111A>C | NCBI36 |
| NG_009205.2:g.35454T>G | |
| NG_009205.3:g.35454T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1785+2T>G (POMGNT1) | ENSP00000379698.4:n.1785+2T>G | |
| ENST00000497439.6:n.1957+2T>G (POMGNT1) | ||
| ENST00000684817.1:n.2145+2T>G (POMGNT1) | ||
| ENST00000684898.1:n.2347+2T>G (POMGNT1) | ||
| ENST00000685230.1:c.*1095+2T>G (POMGNT1) | ENSP00000510305.1:n.*1095+2T>G | |
| ENST00000685275.1:n.2332+2T>G (POMGNT1) | ||
| ENST00000685444.1:c.1686+2T>G (POMGNT1) | ENSP00000510762.1:n.1686+2T>G | |
| ENST00000685704.1:n.2451+2T>G (POMGNT1) | ||
| ENST00000685833.1:n.4178+2T>G (POMGNT1) | ||
| ENST00000686252.1:n.2859+2T>G (POMGNT1) | ||
| ENST00000686379.1:c.*909+2T>G (POMGNT1) | ENSP00000508913.1:n.*909+2T>G | |
| ENST00000686724.1:n.3472+2T>G (POMGNT1) | ||
| ENST00000686737.1:c.1785+2T>G (POMGNT1) | ENSP00000508736.1:n.1785+2T>G | |
| ENST00000687112.1:n.2651+2T>G (POMGNT1) | ||
| ENST00000687149.1:c.1824+2T>G (POMGNT1) | ENSP00000509745.1:n.1824+2T>G | |
| ENST00000687197.1:c.*725+2T>G (POMGNT1) | ENSP00000510749.1:n.*725+2T>G | |
| ENST00000687235.1:n.3862+2T>G (POMGNT1) | ||
| ENST00000687613.1:n.2425+2T>G (POMGNT1) | ||
| ENST00000687683.1:c.1785+2T>G (POMGNT1) | ENSP00000508522.1:n.1785+2T>G | |
| ENST00000688032.1:n.2322+2T>G (POMGNT1) | ||
| ENST00000688596.1:n.2436+2T>G (POMGNT1) | ||
| ENST00000688608.1:c.1686+2T>G (POMGNT1) | ENSP00000508890.1:n.1686+2T>G | |
| ENST00000689031.1:n.2237+2T>G (POMGNT1) | ||
| ENST00000689756.1:c.*1417+2T>G (POMGNT1) | ENSP00000509023.1:n.*1417+2T>G | |
| ENST00000690377.1:n.2132+2T>G (POMGNT1) | ||
| ENST00000690678.1:c.1785+2T>G (POMGNT1) | ENSP00000508703.1:n.1785+2T>G | |
| ENST00000691209.1:c.*725+2T>G (POMGNT1) | ENSP00000510112.1:n.*725+2T>G | |
| ENST00000691243.1:c.*176+2T>G (POMGNT1) | ENSP00000510654.1:n.*176+2T>G | |
| ENST00000692202.1:n.2360+2T>G (POMGNT1) | ||
| ENST00000692322.1:c.*1572+2T>G (POMGNT1) | ENSP00000509017.1:n.*1572+2T>G | |
| ENST00000692369.1:c.1785+2T>G (POMGNT1) | ENSP00000508453.1:n.1785+2T>G | |
| ENST00000692599.1:n.3660+2T>G (POMGNT1) | ||
| ENST00000692635.1:c.*660+2T>G (POMGNT1) | ENSP00000508425.1:n.*660+2T>G | |
| ENST00000693168.1:n.3561+2T>G (POMGNT1) | ||
| ENST00000693218.1:c.*346+2T>G (POMGNT1) | ENSP00000510577.1:n.*346+2T>G | |
| ENST00000693223.1:n.2733+2T>G (POMGNT1) | ||
| ENST00000371984.8:c.1785+2T>G (POMGNT1) MANE Select | ENSP00000361052.3:n.1785+2T>G | |
| ENST00000371984.7:c.1785+2T>G (POMGNT1) | ENSP00000361052.3:n.1785+2T>G | |
| ENST00000371992.1:c.1785+2T>G (POMGNT1) | ENSP00000361060.1:n.1785+2T>G | |
| ENST00000396420.7:c.*1454+2T>G (POMGNT1) | ENSP00000379698.3:n.*1454+2T>G | |
| ENST00000480972.1:n.434+2T>G (POMGNT1) | ||
| NM_001243766.1:c.1785+2T>G (POMGNT1) | NP_001230695.1:n.1785+2T>G | |
| NM_001290129.1:c.1719+2T>G (POMGNT1) | NP_001277058.1:n.1719+2T>G | |
| NM_001290130.1:c.1356+2T>G (POMGNT1) | NP_001277059.1:n.1356+2T>G | |
| NM_017739.3:c.1785+2T>G (POMGNT1) | NP_060209.3:n.1785+2T>G | |
| XM_005271010.1:c.1785+2T>G (POMGNT1) | XP_005271067.1:n.1785+2T>G | |
| XM_006710755.1:c.1785+2T>G (POMGNT1) | XP_006710818.1:n.1785+2T>G | |
| XM_006710756.1:c.1785+2T>G (POMGNT1) | XP_006710819.1:n.1785+2T>G | |
| XM_011540460.1:c.678+4544A>C (TSPAN1) | XP_011538762.1:n.678+4544A>C | |
| XM_011540461.1:c.633+4544A>C (TSPAN1) | XP_011538763.1:n.633+4544A>C | |
| XM_011541759.1:c.1719+2T>G (POMGNT1) | XP_011540061.1:n.1719+2T>G | |
| XM_011541760.1:c.1719+2T>G (POMGNT1) | XP_011540062.1:n.1719+2T>G | |
| XM_011541761.1:c.693+2T>G (POMGNT1) | XP_011540063.1:n.693+2T>G | |
| XM_011540460.3:c.678+4544A>C (TSPAN1) | XP_011538762.1:n.678+4544A>C | |
| XM_011541760.3:c.1719+2T>G (POMGNT1) | XP_011540062.1:n.1719+2T>G | |
| XM_017001690.1:c.1785+2T>G (POMGNT1) | XP_016857179.1:n.1785+2T>G | |
| NM_001243766.2:c.1785+2T>G (POMGNT1) | NP_001230695.2:n.1785+2T>G | |
| NM_001290129.2:c.1719+2T>G (POMGNT1) | NP_001277058.2:n.1719+2T>G | |
| NM_001290130.2:c.1356+2T>G (POMGNT1) | NP_001277059.2:n.1356+2T>G | |
| NM_017739.4:c.1785+2T>G (POMGNT1) MANE Select | NP_060209.4:n.1785+2T>G |