Linked Data
ClinVar Variation Id:
290842
dbSNP Id:
rs886044567
gnomAD v3:
1-46189540-G-A
gnomAD v4:
1-46189540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189540G>A , CM000663.2:g.46189540G>A | GRCh38 |
| NC_000001.10:g.46655212G>A , CM000663.1:g.46655212G>A | GRCh37 |
| NC_000001.9:g.46427799G>A | NCBI36 |
| NG_009205.2:g.35766C>T | |
| NG_009205.3:g.35766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1813C>T (POMGNT1) | ENSP00000379698.4:p.Arg605Cys | |
| ENST00000497439.6:n.1985C>T (POMGNT1) | ||
| ENST00000684817.1:n.2173C>T (POMGNT1) | ||
| ENST00000684898.1:n.2375C>T (POMGNT1) | ||
| ENST00000685230.1:c.*1123C>T (POMGNT1) | ENSP00000510305.1:n.*1123C>T | |
| ENST00000685275.1:n.2360C>T (POMGNT1) | ||
| ENST00000685444.1:c.1714C>T (POMGNT1) | ENSP00000510762.1:p.Arg572Cys | |
| ENST00000685704.1:n.2479C>T (POMGNT1) | ||
| ENST00000685833.1:n.4206C>T (POMGNT1) | ||
| ENST00000686252.1:n.2887C>T (POMGNT1) | ||
| ENST00000686379.1:c.*937C>T (POMGNT1) | ENSP00000508913.1:n.*937C>T | |
| ENST00000686724.1:n.3500C>T (POMGNT1) | ||
| ENST00000686737.1:c.1813C>T (POMGNT1) | ENSP00000508736.1:p.Arg605Cys | |
| ENST00000687112.1:n.2679C>T (POMGNT1) | ||
| ENST00000687149.1:c.1852C>T (POMGNT1) | ENSP00000509745.1:p.Arg618Cys | |
| ENST00000687197.1:c.*753C>T (POMGNT1) | ENSP00000510749.1:n.*753C>T | |
| ENST00000687235.1:n.3890C>T (POMGNT1) | ||
| ENST00000687613.1:n.2453C>T (POMGNT1) | ||
| ENST00000687683.1:c.1813C>T (POMGNT1) | ENSP00000508522.1:p.Arg605Cys | |
| ENST00000688032.1:n.2350C>T (POMGNT1) | ||
| ENST00000688596.1:n.2464C>T (POMGNT1) | ||
| ENST00000688608.1:c.1714C>T (POMGNT1) | ENSP00000508890.1:p.Arg572Cys | |
| ENST00000689031.1:n.2265C>T (POMGNT1) | ||
| ENST00000689756.1:c.*1445C>T (POMGNT1) | ENSP00000509023.1:n.*1445C>T | |
| ENST00000690377.1:n.2160C>T (POMGNT1) | ||
| ENST00000690678.1:c.1813C>T (POMGNT1) | ENSP00000508703.1:p.Arg605Cys | |
| ENST00000691185.1:n.284C>T (POMGNT1) | ||
| ENST00000691209.1:c.*753C>T (POMGNT1) | ENSP00000510112.1:n.*753C>T | |
| ENST00000691243.1:c.*204C>T (POMGNT1) | ENSP00000510654.1:n.*204C>T | |
| ENST00000692202.1:n.2388C>T (POMGNT1) | ||
| ENST00000692322.1:c.*1600C>T (POMGNT1) | ENSP00000509017.1:n.*1600C>T | |
| ENST00000692369.1:c.1813C>T (POMGNT1) | ENSP00000508453.1:p.Arg605Cys | |
| ENST00000692599.1:n.3688C>T (POMGNT1) | ||
| ENST00000692635.1:c.*688C>T (POMGNT1) | ENSP00000508425.1:n.*688C>T | |
| ENST00000693168.1:n.3589C>T (POMGNT1) | ||
| ENST00000693218.1:c.*374C>T (POMGNT1) | ENSP00000510577.1:n.*374C>T | |
| ENST00000693223.1:n.2761C>T (POMGNT1) | ||
| ENST00000371984.8:c.1813C>T (POMGNT1) MANE Select | ENSP00000361052.3:p.Arg605Cys | |
| ENST00000371984.7:c.1813C>T (POMGNT1) | ENSP00000361052.3:p.Arg605Cys | |
| ENST00000371992.1:c.1813C>T (POMGNT1) | ENSP00000361060.1:p.Arg605Cys | |
| ENST00000396420.7:c.*1482C>T (POMGNT1) | ENSP00000379698.3:n.*1482C>T | |
| ENST00000475642.1:n.28C>T (POMGNT1) | ||
| ENST00000480972.1:n.462C>T (POMGNT1) | ||
| NM_001243766.1:c.1813C>T (POMGNT1) | NP_001230695.1:p.Arg605Cys | |
| NM_001290129.1:c.1747C>T (POMGNT1) | NP_001277058.1:p.Arg583Cys | |
| NM_001290130.1:c.1384C>T (POMGNT1) | NP_001277059.1:p.Arg462Cys | |
| NM_017739.3:c.1813C>T (POMGNT1) | NP_060209.3:p.Arg605Cys | |
| XM_005271010.1:c.1813C>T (POMGNT1) | XP_005271067.1:p.Arg605Cys | |
| XM_006710755.1:c.1813C>T (POMGNT1) | XP_006710818.1:p.Arg605Cys | |
| XM_006710756.1:c.1813C>T (POMGNT1) | XP_006710819.1:p.Arg605Cys | |
| XM_011540460.1:c.678+4232G>A (TSPAN1) | XP_011538762.1:n.678+4232G>A | |
| XM_011540461.1:c.633+4232G>A (TSPAN1) | XP_011538763.1:n.633+4232G>A | |
| XM_011541759.1:c.1747C>T (POMGNT1) | XP_011540061.1:p.Arg583Cys | |
| XM_011541760.1:c.1747C>T (POMGNT1) | XP_011540062.1:p.Arg583Cys | |
| XM_011541761.1:c.721C>T (POMGNT1) | XP_011540063.1:p.Arg241Cys | |
| XM_011540460.3:c.678+4232G>A (TSPAN1) | XP_011538762.1:n.678+4232G>A | |
| XM_011541760.3:c.1747C>T (POMGNT1) | XP_011540062.1:p.Arg583Cys | |
| XM_017001690.1:c.1813C>T (POMGNT1) | XP_016857179.1:p.Arg605Cys | |
| NM_001243766.2:c.1813C>T (POMGNT1) | NP_001230695.2:p.Arg605Cys | |
| NM_001290129.2:c.1747C>T (POMGNT1) | NP_001277058.2:p.Arg583Cys | |
| NM_001290130.2:c.1384C>T (POMGNT1) | NP_001277059.2:p.Arg462Cys | |
| NM_017739.4:c.1813C>T (POMGNT1) MANE Select | NP_060209.4:p.Arg605Cys |