Linked Data
ClinVar Variation Id:
297532
dbSNP Id:
rs148903585
ExAC:
1:46654491 G / A
gnomAD v2:
1-46654491-G-A
gnomAD v3:
1-46188819-G-A
gnomAD v4:
1-46188819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46188819G>A , CM000663.2:g.46188819G>A | GRCh38 |
| NC_000001.10:g.46654491G>A , CM000663.1:g.46654491G>A | GRCh37 |
| NC_000001.9:g.46427078G>A | NCBI36 |
| NG_009205.2:g.36487C>T | |
| NG_009205.3:g.36487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.*451C>T (POMGNT1) | ENSP00000379698.4:n.*451C>T | |
| ENST00000497439.6:n.2606C>T (POMGNT1) | ||
| ENST00000684817.1:n.2794C>T (POMGNT1) | ||
| ENST00000684898.1:n.3096C>T (POMGNT1) | ||
| ENST00000685230.1:c.*1744C>T (POMGNT1) | ENSP00000510305.1:n.*1744C>T | |
| ENST00000685275.1:n.2981C>T (POMGNT1) | ||
| ENST00000685444.1:c.*451C>T (POMGNT1) | ENSP00000510762.1:n.*451C>T | |
| ENST00000685704.1:n.3100C>T (POMGNT1) | ||
| ENST00000685833.1:n.4827C>T (POMGNT1) | ||
| ENST00000686252.1:n.3508C>T (POMGNT1) | ||
| ENST00000686379.1:c.*1558C>T (POMGNT1) | ENSP00000508913.1:n.*1558C>T | |
| ENST00000686724.1:n.4121C>T (POMGNT1) | ||
| ENST00000686737.1:c.*451C>T (POMGNT1) | ENSP00000508736.1:n.*451C>T | |
| ENST00000687112.1:n.3300C>T (POMGNT1) | ||
| ENST00000687149.1:c.*451C>T (POMGNT1) | ENSP00000509745.1:n.*451C>T | |
| ENST00000687197.1:c.*997C>T (POMGNT1) | ENSP00000510749.1:n.*997C>T | |
| ENST00000687235.1:n.4511C>T (POMGNT1) | ||
| ENST00000687613.1:n.3074C>T (POMGNT1) | ||
| ENST00000687683.1:c.*451C>T (POMGNT1) | ENSP00000508522.1:n.*451C>T | |
| ENST00000688032.1:n.2971C>T (POMGNT1) | ||
| ENST00000688596.1:n.3085C>T (POMGNT1) | ||
| ENST00000688608.1:c.*451C>T (POMGNT1) | ENSP00000508890.1:n.*451C>T | |
| ENST00000689031.1:n.2509C>T (POMGNT1) | ||
| ENST00000689756.1:c.*2066C>T (POMGNT1) | ENSP00000509023.1:n.*2066C>T | |
| ENST00000690377.1:n.2520C>T (POMGNT1) | ||
| ENST00000690678.1:c.*252C>T (POMGNT1) | ENSP00000508703.1:n.*252C>T | |
| ENST00000691185.1:n.905C>T (POMGNT1) | ||
| ENST00000691209.1:c.*1374C>T (POMGNT1) | ENSP00000510112.1:n.*1374C>T | |
| ENST00000691243.1:c.*825C>T (POMGNT1) | ENSP00000510654.1:n.*825C>T | |
| ENST00000692202.1:n.3009C>T (POMGNT1) | ||
| ENST00000692322.1:c.*2321C>T (POMGNT1) | ENSP00000509017.1:n.*2321C>T | |
| ENST00000692369.1:c.2057C>T (POMGNT1) | ENSP00000508453.1:p.Ala686Val | |
| ENST00000692599.1:n.4309C>T (POMGNT1) | ||
| ENST00000692635.1:c.*1309C>T (POMGNT1) | ENSP00000508425.1:n.*1309C>T | |
| ENST00000693168.1:n.4210C>T (POMGNT1) | ||
| ENST00000693218.1:c.*995C>T (POMGNT1) | ENSP00000510577.1:n.*995C>T | |
| ENST00000693223.1:n.3382C>T (POMGNT1) | ||
| ENST00000371984.8:c.*451C>T (POMGNT1) MANE Select | ENSP00000361052.3:n.*451C>T | |
| ENST00000371984.7:c.*451C>T (POMGNT1) | ENSP00000361052.3:n.*451C>T | |
| ENST00000371992.1:c.2147C>T (POMGNT1) | ENSP00000361060.1:p.Ala716Val | |
| ENST00000396420.7:c.*2103C>T (POMGNT1) | ENSP00000379698.3:n.*2103C>T | |
| ENST00000475642.1:n.272C>T (POMGNT1) | ||
| NM_001243766.1:c.2147C>T (POMGNT1) | NP_001230695.1:p.Ala716Val | |
| NM_001290129.1:c.*190C>T (POMGNT1) | NP_001277058.1:n.*190C>T | |
| NM_001290130.1:c.*190C>T (POMGNT1) | NP_001277059.1:n.*190C>T | |
| NM_017739.3:c.*451C>T (POMGNT1) | NP_060209.3:n.*451C>T | |
| XM_005271010.1:c.2057C>T (POMGNT1) | XP_005271067.1:p.Ala686Val | |
| XM_006710755.1:c.2057C>T (POMGNT1) | XP_006710818.1:p.Ala686Val | |
| XM_006710756.1:c.2147C>T (POMGNT1) | XP_006710819.1:p.Ala716Val | |
| XM_011540460.1:c.678+3511G>A (TSPAN1) | XP_011538762.1:n.678+3511G>A | |
| XM_011540461.1:c.633+3511G>A (TSPAN1) | XP_011538763.1:n.633+3511G>A | |
| XM_011541759.1:c.1991C>T (POMGNT1) | XP_011540061.1:p.Ala664Val | |
| XM_011541760.1:c.*451C>T (POMGNT1) | XP_011540062.1:n.*451C>T | |
| XM_011541761.1:c.965C>T (POMGNT1) | XP_011540063.1:p.Ala322Val | |
| XM_011540460.3:c.678+3511G>A (TSPAN1) | XP_011538762.1:n.678+3511G>A | |
| XM_011541760.3:c.*451C>T (POMGNT1) | XP_011540062.1:n.*451C>T | |
| XM_017001690.1:c.*451C>T (POMGNT1) | XP_016857179.1:n.*451C>T | |
| NM_001243766.2:c.2147C>T (POMGNT1) | NP_001230695.2:p.Ala716Val | |
| NM_001290129.2:c.*190C>T (POMGNT1) | NP_001277058.2:n.*190C>T | |
| NM_001290130.2:c.*190C>T (POMGNT1) | NP_001277059.2:n.*190C>T | |
| NM_017739.4:c.*451C>T (POMGNT1) MANE Select | NP_060209.4:n.*451C>T |