Linked Data
ClinVar Variation Id:
2011833
ClinVar RCV Id:
RCV002838709
dbSNP Id:
rs11553479
ExAC:
20:49557485 A / C
gnomAD v2:
20-49557485-A-C
gnomAD v3:
20-50940948-A-C
gnomAD v4:
20-50940948-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50940948A>C , CM000682.2:g.50940948A>C | GRCh38 |
| NC_000020.10:g.49557485A>C , CM000682.1:g.49557485A>C | GRCh37 |
| NC_000020.9:g.48990892A>C | NCBI36 |
| NG_008923.1:g.22576T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.600-15T>G (DPM1) | ENSP00000360640.5:n.600-15T>G | |
| ENST00000681979.1:n.473-15T>G (DPM1) | ||
| ENST00000682366.1:n.840-15T>G (DPM1) | ||
| ENST00000682713.1:n.1043+1083T>G (DPM1) | ||
| ENST00000682754.1:n.584T>G (DPM1) | ||
| ENST00000683010.1:n.2209T>G (DPM1) | ||
| ENST00000683048.1:c.*78+1083T>G (DPM1) | ENSP00000506986.1:n.*78+1083T>G | |
| ENST00000683466.1:c.179+1083T>G (DPM1) | ENSP00000507404.1:n.179+1083T>G | |
| ENST00000684193.1:n.1251T>G (DPM1) | ||
| ENST00000684708.1:n.515T>G (DPM1) | ||
| ENST00000371588.10:c.495-15T>G (DPM1) MANE Select | ENSP00000360644.5:n.495-15T>G | |
| ENST00000371582.8:c.576-15T>G (DPM1) | ENSP00000360638.4:n.576-15T>G | |
| ENST00000371584.8:c.598-15T>G (DPM1) | ||
| ENST00000371588.9:c.495-15T>G (DPM1) | ENSP00000360644.5:n.495-15T>G | |
| ENST00000413082.1:c.480-15T>G (DPM1) | ENSP00000394921.1:n.480-15T>G | |
| ENST00000466152.5:n.529T>G (DPM1) | ||
| ENST00000494752.1:n.250T>G (DPM1) | ||
| NM_001317034.1:c.600-15T>G (DPM1) | NP_001303963.1:n.600-15T>G | |
| NM_001317035.1:c.576-15T>G (DPM1) | NP_001303964.1:n.576-15T>G | |
| NM_001317036.1:c.494+1083T>G (DPM1) | NP_001303965.1:n.494+1083T>G | |
| NM_003859.1:c.495-15T>G (DPM1) | NP_003850.1:n.495-15T>G | |
| NM_003859.2:c.495-15T>G (DPM1) | NP_003850.1:n.495-15T>G | |
| NR_110007.1:n.251-3409A>C (ADNP-AS1) | ||
| NR_110008.1:n.150-3409A>C (ADNP-AS1) | ||
| NR_110009.1:n.147-3409A>C (ADNP-AS1) | ||
| NR_133648.1:n.543T>G (DPM1) | ||
| XM_011529093.1:c.505T>G (DPM1) | XP_011527395.1:p.Cys169Gly | |
| XR_002958550.1:n.543T>G (DPM1) | ||
| XR_002958551.1:n.507+1083T>G (DPM1) | ||
| NM_003859.3:c.495-15T>G (DPM1) MANE Select | NP_003850.1:n.495-15T>G | |
| NR_133648.2:n.511T>G (DPM1) |