Linked Data
ClinVar Variation Id:
728418
dbSNP Id:
rs561078570
gnomAD v2:
20-49552694-A-G
gnomAD v3:
20-50936157-A-G
gnomAD v4:
20-50936157-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50936157A>G , CM000682.2:g.50936157A>G | GRCh38 |
| NC_000020.10:g.49552694A>G , CM000682.1:g.49552694A>G | GRCh37 |
| NC_000020.9:g.48986101A>G | NCBI36 |
| NG_008923.1:g.27367T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.774T>C (DPM1) | ENSP00000360640.5:p.Thr258= | |
| ENST00000681979.1:n.647T>C (DPM1) | ||
| ENST00000682366.1:n.1014T>C (DPM1) | ||
| ENST00000682713.1:n.1149T>C (DPM1) | ||
| ENST00000683048.1:c.*184T>C (DPM1) | ENSP00000506986.1:n.*184T>C | |
| ENST00000683466.1:c.285T>C (DPM1) | ENSP00000507404.1:p.Thr95= | |
| ENST00000684193.1:n.1440T>C (DPM1) | ||
| ENST00000684708.1:n.704T>C (DPM1) | ||
| ENST00000371588.10:c.669T>C (DPM1) MANE Select | ENSP00000360644.5:p.Thr223= | |
| ENST00000371582.8:c.750T>C (DPM1) | ENSP00000360638.4:p.Thr250= | |
| ENST00000371584.8:c.772T>C (DPM1) | ||
| ENST00000371588.9:c.669T>C (DPM1) | ENSP00000360644.5:p.Thr223= | |
| ENST00000413082.1:c.654T>C (DPM1) | ENSP00000394921.1:p.Thr218= | |
| ENST00000466152.5:n.718T>C (DPM1) | ||
| ENST00000494752.1:n.439T>C (DPM1) | ||
| NM_001317034.1:c.774T>C (DPM1) | NP_001303963.1:p.Thr258= | |
| NM_001317035.1:c.750T>C (DPM1) | NP_001303964.1:p.Thr250= | |
| NM_001317036.1:c.600T>C (DPM1) | NP_001303965.1:p.Thr200= | |
| NM_003859.1:c.669T>C (DPM1) | NP_003850.1:p.Thr223= | |
| NM_003859.2:c.669T>C (DPM1) | NP_003850.1:p.Thr223= | |
| NR_110007.1:n.250+2330A>G (ADNP-AS1) | ||
| NR_110008.1:n.149+4708A>G (ADNP-AS1) | ||
| NR_110009.1:n.146+4708A>G (ADNP-AS1) | ||
| NR_133648.1:n.732T>C (DPM1) | ||
| XR_002958550.1:n.732T>C (DPM1) | ||
| XR_002958551.1:n.613T>C (DPM1) | ||
| NM_003859.3:c.669T>C (DPM1) MANE Select | NP_003850.1:p.Thr223= | |
| NR_133648.2:n.700T>C (DPM1) |