Linked Data
ClinVar Variation Id:
1620042
ClinVar RCV Id:
RCV002089238
dbSNP Id:
rs2148172303
gnomAD v4:
1-46190493-C-T
MyVariant Identifiers:
chr1:g.46656165C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46190493C>T , CM000663.2:g.46190493C>T | GRCh38 |
| NC_000001.10:g.46656165C>T , CM000663.1:g.46656165C>T | GRCh37 |
| NC_000001.9:g.46428752C>T | NCBI36 |
| NG_009205.2:g.34813G>A | |
| NG_009205.3:g.34813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1629G>A (POMGNT1) | ENSP00000379698.4:p.Val543= | |
| ENST00000477114.2:n.2191G>A (POMGNT1) | ||
| ENST00000497439.6:n.1801G>A (POMGNT1) | ||
| ENST00000684817.1:n.1989G>A (POMGNT1) | ||
| ENST00000684898.1:n.2191G>A (POMGNT1) | ||
| ENST00000685230.1:c.*939G>A (POMGNT1) | ENSP00000510305.1:n.*939G>A | |
| ENST00000685275.1:n.2176G>A (POMGNT1) | ||
| ENST00000685444.1:c.1530G>A (POMGNT1) | ENSP00000510762.1:p.Val510= | |
| ENST00000685704.1:n.2295G>A (POMGNT1) | ||
| ENST00000685775.1:n.4671G>A (POMGNT1) | ||
| ENST00000685833.1:n.4022G>A (POMGNT1) | ||
| ENST00000686252.1:n.2703G>A (POMGNT1) | ||
| ENST00000686379.1:c.*753G>A (POMGNT1) | ENSP00000508913.1:n.*753G>A | |
| ENST00000686724.1:n.3316G>A (POMGNT1) | ||
| ENST00000686737.1:c.1629G>A (POMGNT1) | ENSP00000508736.1:p.Val543= | |
| ENST00000687112.1:n.2495G>A (POMGNT1) | ||
| ENST00000687149.1:c.1668G>A (POMGNT1) | ENSP00000509745.1:p.Val556= | |
| ENST00000687197.1:c.*569G>A (POMGNT1) | ENSP00000510749.1:n.*569G>A | |
| ENST00000687235.1:n.3706G>A (POMGNT1) | ||
| ENST00000687613.1:n.2290-504G>A (POMGNT1) | ||
| ENST00000687683.1:c.1629G>A (POMGNT1) | ENSP00000508522.1:p.Val543= | |
| ENST00000688032.1:n.2166G>A (POMGNT1) | ||
| ENST00000688596.1:n.2280G>A (POMGNT1) | ||
| ENST00000688608.1:c.1530G>A (POMGNT1) | ENSP00000508890.1:p.Val510= | |
| ENST00000688919.1:n.3027G>A (POMGNT1) | ||
| ENST00000689031.1:n.2102-504G>A (POMGNT1) | ||
| ENST00000689717.1:n.2003G>A (POMGNT1) | ||
| ENST00000689756.1:c.*1261G>A (POMGNT1) | ENSP00000509023.1:n.*1261G>A | |
| ENST00000690377.1:n.1976G>A (POMGNT1) | ||
| ENST00000690678.1:c.1629G>A (POMGNT1) | ENSP00000508703.1:p.Val543= | |
| ENST00000691209.1:c.*569G>A (POMGNT1) | ENSP00000510112.1:n.*569G>A | |
| ENST00000691243.1:c.*20G>A (POMGNT1) | ENSP00000510654.1:n.*20G>A | |
| ENST00000692169.1:n.3293G>A (POMGNT1) | ||
| ENST00000692202.1:n.2204G>A (POMGNT1) | ||
| ENST00000692322.1:c.*1416G>A (POMGNT1) | ENSP00000509017.1:n.*1416G>A | |
| ENST00000692369.1:c.1629G>A (POMGNT1) | ENSP00000508453.1:p.Val543= | |
| ENST00000692599.1:n.3504G>A (POMGNT1) | ||
| ENST00000692635.1:c.*504G>A (POMGNT1) | ENSP00000508425.1:n.*504G>A | |
| ENST00000693168.1:n.3405G>A (POMGNT1) | ||
| ENST00000693218.1:c.*190G>A (POMGNT1) | ENSP00000510577.1:n.*190G>A | |
| ENST00000693223.1:n.2577G>A (POMGNT1) | ||
| ENST00000693365.1:n.5778G>A (POMGNT1) | ||
| ENST00000371984.8:c.1629G>A (POMGNT1) MANE Select | ENSP00000361052.3:p.Val543= | |
| ENST00000371984.7:c.1629G>A (POMGNT1) | ENSP00000361052.3:p.Val543= | |
| ENST00000371992.1:c.1629G>A (POMGNT1) | ENSP00000361060.1:p.Val543= | |
| ENST00000396420.7:c.*1298G>A (POMGNT1) | ENSP00000379698.3:n.*1298G>A | |
| ENST00000480972.1:n.278G>A (POMGNT1) | ||
| ENST00000485714.1:n.2530G>A (POMGNT1) | ||
| NM_001243766.1:c.1629G>A (POMGNT1) | NP_001230695.1:p.Val543= | |
| NM_001290129.1:c.1563G>A (POMGNT1) | NP_001277058.1:p.Val521= | |
| NM_001290130.1:c.1200G>A (POMGNT1) | NP_001277059.1:p.Val400= | |
| NM_017739.3:c.1629G>A (POMGNT1) | NP_060209.3:p.Val543= | |
| XM_005271010.1:c.1629G>A (POMGNT1) | XP_005271067.1:p.Val543= | |
| XM_006710755.1:c.1629G>A (POMGNT1) | XP_006710818.1:p.Val543= | |
| XM_006710756.1:c.1629G>A (POMGNT1) | XP_006710819.1:p.Val543= | |
| XM_011540460.1:c.678+5185C>T (TSPAN1) | XP_011538762.1:n.678+5185C>T | |
| XM_011540461.1:c.633+5185C>T (TSPAN1) | XP_011538763.1:n.633+5185C>T | |
| XM_011541759.1:c.1563G>A (POMGNT1) | XP_011540061.1:p.Val521= | |
| XM_011541760.1:c.1563G>A (POMGNT1) | XP_011540062.1:p.Val521= | |
| XM_011541761.1:c.537G>A (POMGNT1) | XP_011540063.1:p.Val179= | |
| XM_011540460.3:c.678+5185C>T (TSPAN1) | XP_011538762.1:n.678+5185C>T | |
| XM_011541760.3:c.1563G>A (POMGNT1) | XP_011540062.1:p.Val521= | |
| XM_017001690.1:c.1629G>A (POMGNT1) | XP_016857179.1:p.Val543= | |
| NM_001243766.2:c.1629G>A (POMGNT1) | NP_001230695.2:p.Val543= | |
| NM_001290129.2:c.1563G>A (POMGNT1) | NP_001277058.2:p.Val521= | |
| NM_001290130.2:c.1200G>A (POMGNT1) | NP_001277059.2:p.Val400= | |
| NM_017739.4:c.1629G>A (POMGNT1) MANE Select | NP_060209.4:p.Val543= |