Linked Data
dbSNP Id:
rs537349651
ExAC:
1:46655534 G / T
gnomAD v2:
1-46655534-G-T
gnomAD v3:
1-46189862-G-T
gnomAD v4:
1-46189862-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189862G>T , CM000663.2:g.46189862G>T | GRCh38 |
| NC_000001.10:g.46655534G>T , CM000663.1:g.46655534G>T | GRCh37 |
| NC_000001.9:g.46428121G>T | NCBI36 |
| NG_009205.2:g.35444C>A | |
| NG_009205.3:g.35444C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1777C>A (POMGNT1) | ENSP00000379698.4:p.Leu593Ile | |
| ENST00000497439.6:n.1949C>A (POMGNT1) | ||
| ENST00000684817.1:n.2137C>A (POMGNT1) | ||
| ENST00000684898.1:n.2339C>A (POMGNT1) | ||
| ENST00000685230.1:c.*1087C>A (POMGNT1) | ENSP00000510305.1:n.*1087C>A | |
| ENST00000685275.1:n.2324C>A (POMGNT1) | ||
| ENST00000685444.1:c.1678C>A (POMGNT1) | ENSP00000510762.1:p.Leu560Ile | |
| ENST00000685704.1:n.2443C>A (POMGNT1) | ||
| ENST00000685833.1:n.4170C>A (POMGNT1) | ||
| ENST00000686252.1:n.2851C>A (POMGNT1) | ||
| ENST00000686379.1:c.*901C>A (POMGNT1) | ENSP00000508913.1:n.*901C>A | |
| ENST00000686724.1:n.3464C>A (POMGNT1) | ||
| ENST00000686737.1:c.1777C>A (POMGNT1) | ENSP00000508736.1:p.Leu593Ile | |
| ENST00000687112.1:n.2643C>A (POMGNT1) | ||
| ENST00000687149.1:c.1816C>A (POMGNT1) | ENSP00000509745.1:p.Leu606Ile | |
| ENST00000687197.1:c.*717C>A (POMGNT1) | ENSP00000510749.1:n.*717C>A | |
| ENST00000687235.1:n.3854C>A (POMGNT1) | ||
| ENST00000687613.1:n.2417C>A (POMGNT1) | ||
| ENST00000687683.1:c.1777C>A (POMGNT1) | ENSP00000508522.1:p.Leu593Ile | |
| ENST00000688032.1:n.2314C>A (POMGNT1) | ||
| ENST00000688596.1:n.2428C>A (POMGNT1) | ||
| ENST00000688608.1:c.1678C>A (POMGNT1) | ENSP00000508890.1:p.Leu560Ile | |
| ENST00000689031.1:n.2229C>A (POMGNT1) | ||
| ENST00000689756.1:c.*1409C>A (POMGNT1) | ENSP00000509023.1:n.*1409C>A | |
| ENST00000690377.1:n.2124C>A (POMGNT1) | ||
| ENST00000690678.1:c.1777C>A (POMGNT1) | ENSP00000508703.1:p.Leu593Ile | |
| ENST00000691209.1:c.*717C>A (POMGNT1) | ENSP00000510112.1:n.*717C>A | |
| ENST00000691243.1:c.*168C>A (POMGNT1) | ENSP00000510654.1:n.*168C>A | |
| ENST00000692202.1:n.2352C>A (POMGNT1) | ||
| ENST00000692322.1:c.*1564C>A (POMGNT1) | ENSP00000509017.1:n.*1564C>A | |
| ENST00000692369.1:c.1777C>A (POMGNT1) | ENSP00000508453.1:p.Leu593Ile | |
| ENST00000692599.1:n.3652C>A (POMGNT1) | ||
| ENST00000692635.1:c.*652C>A (POMGNT1) | ENSP00000508425.1:n.*652C>A | |
| ENST00000693168.1:n.3553C>A (POMGNT1) | ||
| ENST00000693218.1:c.*338C>A (POMGNT1) | ENSP00000510577.1:n.*338C>A | |
| ENST00000693223.1:n.2725C>A (POMGNT1) | ||
| ENST00000371984.8:c.1777C>A (POMGNT1) MANE Select | ENSP00000361052.3:p.Leu593Ile | |
| ENST00000371984.7:c.1777C>A (POMGNT1) | ENSP00000361052.3:p.Leu593Ile | |
| ENST00000371992.1:c.1777C>A (POMGNT1) | ENSP00000361060.1:p.Leu593Ile | |
| ENST00000396420.7:c.*1446C>A (POMGNT1) | ENSP00000379698.3:n.*1446C>A | |
| ENST00000480972.1:n.426C>A (POMGNT1) | ||
| NM_001243766.1:c.1777C>A (POMGNT1) | NP_001230695.1:p.Leu593Ile | |
| NM_001290129.1:c.1711C>A (POMGNT1) | NP_001277058.1:p.Leu571Ile | |
| NM_001290130.1:c.1348C>A (POMGNT1) | NP_001277059.1:p.Leu450Ile | |
| NM_017739.3:c.1777C>A (POMGNT1) | NP_060209.3:p.Leu593Ile | |
| XM_005271010.1:c.1777C>A (POMGNT1) | XP_005271067.1:p.Leu593Ile | |
| XM_006710755.1:c.1777C>A (POMGNT1) | XP_006710818.1:p.Leu593Ile | |
| XM_006710756.1:c.1777C>A (POMGNT1) | XP_006710819.1:p.Leu593Ile | |
| XM_011540460.1:c.678+4554G>T (TSPAN1) | XP_011538762.1:n.678+4554G>T | |
| XM_011540461.1:c.633+4554G>T (TSPAN1) | XP_011538763.1:n.633+4554G>T | |
| XM_011541759.1:c.1711C>A (POMGNT1) | XP_011540061.1:p.Leu571Ile | |
| XM_011541760.1:c.1711C>A (POMGNT1) | XP_011540062.1:p.Leu571Ile | |
| XM_011541761.1:c.685C>A (POMGNT1) | XP_011540063.1:p.Leu229Ile | |
| XM_011540460.3:c.678+4554G>T (TSPAN1) | XP_011538762.1:n.678+4554G>T | |
| XM_011541760.3:c.1711C>A (POMGNT1) | XP_011540062.1:p.Leu571Ile | |
| XM_017001690.1:c.1777C>A (POMGNT1) | XP_016857179.1:p.Leu593Ile | |
| NM_001243766.2:c.1777C>A (POMGNT1) | NP_001230695.2:p.Leu593Ile | |
| NM_001290129.2:c.1711C>A (POMGNT1) | NP_001277058.2:p.Leu571Ile | |
| NM_001290130.2:c.1348C>A (POMGNT1) | NP_001277059.2:p.Leu450Ile | |
| NM_017739.4:c.1777C>A (POMGNT1) MANE Select | NP_060209.4:p.Leu593Ile |