SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
56593
ClinVar RCV Id:
RCV000050006
RCV000490077
RCV001005010
RCV001266790
RCV002470741
RCV002513698
RCV000704718
RCV000778243
RCV001810416
dbSNP Id:
rs386834024
ExAC:
1:46655129 C / A
gnomAD v2:
1-46655129-C-A
gnomAD v3:
1-46189457-C-A
gnomAD v4:
1-46189457-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189457C>A , CM000663.2:g.46189457C>A | GRCh38 |
| NC_000001.10:g.46655129C>A , CM000663.1:g.46655129C>A | GRCh37 |
| NC_000001.9:g.46427716C>A | NCBI36 |
| NG_009205.2:g.35849G>T | |
| NG_009205.3:g.35849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1895+1G>T (POMGNT1) | ENSP00000379698.4:n.1895+1G>T | |
| ENST00000497439.6:n.2067+1G>T (POMGNT1) | ||
| ENST00000684817.1:n.2255+1G>T (POMGNT1) | ||
| ENST00000684898.1:n.2458G>T (POMGNT1) | ||
| ENST00000685230.1:c.*1205+1G>T (POMGNT1) | ENSP00000510305.1:n.*1205+1G>T | |
| ENST00000685275.1:n.2442+1G>T (POMGNT1) | ||
| ENST00000685444.1:c.1796+1G>T (POMGNT1) | ENSP00000510762.1:n.1796+1G>T | |
| ENST00000685704.1:n.2561+1G>T (POMGNT1) | ||
| ENST00000685833.1:n.4288+1G>T (POMGNT1) | ||
| ENST00000686252.1:n.2969+1G>T (POMGNT1) | ||
| ENST00000686379.1:c.*1019+1G>T (POMGNT1) | ENSP00000508913.1:n.*1019+1G>T | |
| ENST00000686724.1:n.3582+1G>T (POMGNT1) | ||
| ENST00000686737.1:c.1895+1G>T (POMGNT1) | ENSP00000508736.1:n.1895+1G>T | |
| ENST00000687112.1:n.2761+1G>T (POMGNT1) | ||
| ENST00000687149.1:c.1934+1G>T (POMGNT1) | ENSP00000509745.1:n.1934+1G>T | |
| ENST00000687197.1:c.*835+1G>T (POMGNT1) | ENSP00000510749.1:n.*835+1G>T | |
| ENST00000687235.1:n.3972+1G>T (POMGNT1) | ||
| ENST00000687613.1:n.2535+1G>T (POMGNT1) | ||
| ENST00000687683.1:c.1895+1G>T (POMGNT1) | ENSP00000508522.1:n.1895+1G>T | |
| ENST00000688032.1:n.2432+1G>T (POMGNT1) | ||
| ENST00000688596.1:n.2546+1G>T (POMGNT1) | ||
| ENST00000688608.1:c.1796+1G>T (POMGNT1) | ENSP00000508890.1:n.1796+1G>T | |
| ENST00000689031.1:n.2347+1G>T (POMGNT1) | ||
| ENST00000689756.1:c.*1527+1G>T (POMGNT1) | ENSP00000509023.1:n.*1527+1G>T | |
| ENST00000690377.1:n.2242+1G>T (POMGNT1) | ||
| ENST00000690678.1:c.1895+1G>T (POMGNT1) | ENSP00000508703.1:n.1895+1G>T | |
| ENST00000691185.1:n.366+1G>T (POMGNT1) | ||
| ENST00000691209.1:c.*835+1G>T (POMGNT1) | ENSP00000510112.1:n.*835+1G>T | |
| ENST00000691243.1:c.*286+1G>T (POMGNT1) | ENSP00000510654.1:n.*286+1G>T | |
| ENST00000692202.1:n.2470+1G>T (POMGNT1) | ||
| ENST00000692322.1:c.*1683G>T (POMGNT1) | ENSP00000509017.1:n.*1683G>T | |
| ENST00000692369.1:c.1895+1G>T (POMGNT1) | ENSP00000508453.1:n.1895+1G>T | |
| ENST00000692599.1:n.3770+1G>T (POMGNT1) | ||
| ENST00000692635.1:c.*770+1G>T (POMGNT1) | ENSP00000508425.1:n.*770+1G>T | |
| ENST00000693168.1:n.3671+1G>T (POMGNT1) | ||
| ENST00000693218.1:c.*456+1G>T (POMGNT1) | ENSP00000510577.1:n.*456+1G>T | |
| ENST00000693223.1:n.2843+1G>T (POMGNT1) | ||
| ENST00000371984.8:c.1895+1G>T (POMGNT1) MANE Select | ENSP00000361052.3:n.1895+1G>T | |
| ENST00000371984.7:c.1895+1G>T (POMGNT1) | ENSP00000361052.3:n.1895+1G>T | |
| ENST00000371992.1:c.1869+27G>T (POMGNT1) | ENSP00000361060.1:n.1869+27G>T | |
| ENST00000396420.7:c.*1564+1G>T (POMGNT1) | ENSP00000379698.3:n.*1564+1G>T | |
| ENST00000475642.1:n.110+1G>T (POMGNT1) | ||
| NM_001243766.1:c.1869+27G>T (POMGNT1) | NP_001230695.1:n.1869+27G>T | |
| NM_001290129.1:c.1829+1G>T (POMGNT1) | NP_001277058.1:n.1829+1G>T | |
| NM_001290130.1:c.1466+1G>T (POMGNT1) | NP_001277059.1:n.1466+1G>T | |
| NM_017739.3:c.1895+1G>T (POMGNT1) | NP_060209.3:n.1895+1G>T | |
| XM_005271010.1:c.1895+1G>T (POMGNT1) | XP_005271067.1:n.1895+1G>T | |
| XM_006710755.1:c.1895+1G>T (POMGNT1) | XP_006710818.1:n.1895+1G>T | |
| XM_006710756.1:c.1869+27G>T (POMGNT1) | XP_006710819.1:n.1869+27G>T | |
| XM_011540460.1:c.678+4149C>A (TSPAN1) | XP_011538762.1:n.678+4149C>A | |
| XM_011540461.1:c.633+4149C>A (TSPAN1) | XP_011538763.1:n.633+4149C>A | |
| XM_011541759.1:c.1829+1G>T (POMGNT1) | XP_011540061.1:n.1829+1G>T | |
| XM_011541760.1:c.1829+1G>T (POMGNT1) | XP_011540062.1:n.1829+1G>T | |
| XM_011541761.1:c.803+1G>T (POMGNT1) | XP_011540063.1:n.803+1G>T | |
| XM_011540460.3:c.678+4149C>A (TSPAN1) | XP_011538762.1:n.678+4149C>A | |
| XM_011541760.3:c.1829+1G>T (POMGNT1) | XP_011540062.1:n.1829+1G>T | |
| XM_017001690.1:c.1895+1G>T (POMGNT1) | XP_016857179.1:n.1895+1G>T | |
| NM_001243766.2:c.1869+27G>T (POMGNT1) | NP_001230695.2:n.1869+27G>T | |
| NM_001290129.2:c.1829+1G>T (POMGNT1) | NP_001277058.2:n.1829+1G>T | |
| NM_001290130.2:c.1466+1G>T (POMGNT1) | NP_001277059.2:n.1466+1G>T | |
| NM_017739.4:c.1895+1G>T (POMGNT1) MANE Select | NP_060209.4:n.1895+1G>T |