Linked Data
ClinVar Variation Id:
3997
ClinVar RCV Id:
RCV000004204
RCV000081801
RCV000671438
RCV000710195
RCV001082774
RCV001097781
RCV001449938
RCV001579238
RCV001579237
dbSNP Id:
rs74374973
ExAC:
1:46655645 C / T
gnomAD v2:
1-46655645-C-T
gnomAD v3:
1-46189973-C-T
gnomAD v4:
1-46189973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189973C>T , CM000663.2:g.46189973C>T | GRCh38 |
| NC_000001.10:g.46655645C>T , CM000663.1:g.46655645C>T | GRCh37 |
| NC_000001.9:g.46428232C>T | NCBI36 |
| NG_009205.2:g.35333G>A | |
| NG_009205.3:g.35333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1666G>A (POMGNT1) | ENSP00000379698.4:p.Asp556Asn | |
| ENST00000497439.6:n.1838G>A (POMGNT1) | ||
| ENST00000684817.1:n.2026G>A (POMGNT1) | ||
| ENST00000684898.1:n.2228G>A (POMGNT1) | ||
| ENST00000685230.1:c.*976G>A (POMGNT1) | ENSP00000510305.1:n.*976G>A | |
| ENST00000685275.1:n.2213G>A (POMGNT1) | ||
| ENST00000685444.1:c.1567G>A (POMGNT1) | ENSP00000510762.1:p.Asp523Asn | |
| ENST00000685704.1:n.2332G>A (POMGNT1) | ||
| ENST00000685833.1:n.4059G>A (POMGNT1) | ||
| ENST00000686252.1:n.2740G>A (POMGNT1) | ||
| ENST00000686379.1:c.*790G>A (POMGNT1) | ENSP00000508913.1:n.*790G>A | |
| ENST00000686724.1:n.3353G>A (POMGNT1) | ||
| ENST00000686737.1:c.1666G>A (POMGNT1) | ENSP00000508736.1:p.Asp556Asn | |
| ENST00000687112.1:n.2532G>A (POMGNT1) | ||
| ENST00000687149.1:c.1705G>A (POMGNT1) | ENSP00000509745.1:p.Asp569Asn | |
| ENST00000687197.1:c.*606G>A (POMGNT1) | ENSP00000510749.1:n.*606G>A | |
| ENST00000687235.1:n.3743G>A (POMGNT1) | ||
| ENST00000687613.1:n.2306G>A (POMGNT1) | ||
| ENST00000687683.1:c.1666G>A (POMGNT1) | ENSP00000508522.1:p.Asp556Asn | |
| ENST00000688032.1:n.2203G>A (POMGNT1) | ||
| ENST00000688596.1:n.2317G>A (POMGNT1) | ||
| ENST00000688608.1:c.1567G>A (POMGNT1) | ENSP00000508890.1:p.Asp523Asn | |
| ENST00000689031.1:n.2118G>A (POMGNT1) | ||
| ENST00000689756.1:c.*1298G>A (POMGNT1) | ENSP00000509023.1:n.*1298G>A | |
| ENST00000690377.1:n.2013G>A (POMGNT1) | ||
| ENST00000690678.1:c.1666G>A (POMGNT1) | ENSP00000508703.1:p.Asp556Asn | |
| ENST00000691209.1:c.*606G>A (POMGNT1) | ENSP00000510112.1:n.*606G>A | |
| ENST00000691243.1:c.*57G>A (POMGNT1) | ENSP00000510654.1:n.*57G>A | |
| ENST00000692202.1:n.2241G>A (POMGNT1) | ||
| ENST00000692322.1:c.*1453G>A (POMGNT1) | ENSP00000509017.1:n.*1453G>A | |
| ENST00000692369.1:c.1666G>A (POMGNT1) | ENSP00000508453.1:p.Asp556Asn | |
| ENST00000692599.1:n.3541G>A (POMGNT1) | ||
| ENST00000692635.1:c.*541G>A (POMGNT1) | ENSP00000508425.1:n.*541G>A | |
| ENST00000693168.1:n.3442G>A (POMGNT1) | ||
| ENST00000693218.1:c.*227G>A (POMGNT1) | ENSP00000510577.1:n.*227G>A | |
| ENST00000693223.1:n.2614G>A (POMGNT1) | ||
| ENST00000371984.8:c.1666G>A (POMGNT1) MANE Select | ENSP00000361052.3:p.Asp556Asn | |
| ENST00000371984.7:c.1666G>A (POMGNT1) | ENSP00000361052.3:p.Asp556Asn | |
| ENST00000371992.1:c.1666G>A (POMGNT1) | ENSP00000361060.1:p.Asp556Asn | |
| ENST00000396420.7:c.*1335G>A (POMGNT1) | ENSP00000379698.3:n.*1335G>A | |
| ENST00000480972.1:n.315G>A (POMGNT1) | ||
| NM_001243766.1:c.1666G>A (POMGNT1) | NP_001230695.1:p.Asp556Asn | |
| NM_001290129.1:c.1600G>A (POMGNT1) | NP_001277058.1:p.Asp534Asn | |
| NM_001290130.1:c.1237G>A (POMGNT1) | NP_001277059.1:p.Asp413Asn | |
| NM_017739.3:c.1666G>A (POMGNT1) | NP_060209.3:p.Asp556Asn | |
| XM_005271010.1:c.1666G>A (POMGNT1) | XP_005271067.1:p.Asp556Asn | |
| XM_006710755.1:c.1666G>A (POMGNT1) | XP_006710818.1:p.Asp556Asn | |
| XM_006710756.1:c.1666G>A (POMGNT1) | XP_006710819.1:p.Asp556Asn | |
| XM_011540460.1:c.678+4665C>T (TSPAN1) | XP_011538762.1:n.678+4665C>T | |
| XM_011540461.1:c.633+4665C>T (TSPAN1) | XP_011538763.1:n.633+4665C>T | |
| XM_011541759.1:c.1600G>A (POMGNT1) | XP_011540061.1:p.Asp534Asn | |
| XM_011541760.1:c.1600G>A (POMGNT1) | XP_011540062.1:p.Asp534Asn | |
| XM_011541761.1:c.574G>A (POMGNT1) | XP_011540063.1:p.Asp192Asn | |
| XM_011540460.3:c.678+4665C>T (TSPAN1) | XP_011538762.1:n.678+4665C>T | |
| XM_011541760.3:c.1600G>A (POMGNT1) | XP_011540062.1:p.Asp534Asn | |
| XM_017001690.1:c.1666G>A (POMGNT1) | XP_016857179.1:p.Asp556Asn | |
| NM_001243766.2:c.1666G>A (POMGNT1) | NP_001230695.2:p.Asp556Asn | |
| NM_001290129.2:c.1600G>A (POMGNT1) | NP_001277058.2:p.Asp534Asn | |
| NM_001290130.2:c.1237G>A (POMGNT1) | NP_001277059.2:p.Asp413Asn | |
| NM_017739.4:c.1666G>A (POMGNT1) MANE Select | NP_060209.4:p.Asp556Asn |