Linked Data
ClinVar Variation Id:
464507
dbSNP Id:
rs369538517
ExAC:
20:49551768 T / C
gnomAD v2:
20-49551768-T-C
gnomAD v3:
20-50935231-T-C
gnomAD v4:
20-50935231-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50935231T>C , CM000682.2:g.50935231T>C | GRCh38 |
| NC_000020.10:g.49551768T>C , CM000682.1:g.49551768T>C | GRCh37 |
| NC_000020.9:g.48985175T>C | NCBI36 |
| NG_008923.1:g.28293A>G | |
| NG_034200.1:g.760A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.789A>G (DPM1) | ENSP00000360640.5:p.Pro263= | |
| ENST00000682366.1:n.1940A>G (DPM1) | ||
| ENST00000682713.1:n.1164A>G (DPM1) | ||
| ENST00000683048.1:c.*199A>G (DPM1) | ENSP00000506986.1:n.*199A>G | |
| ENST00000683466.1:c.300A>G (DPM1) | ENSP00000507404.1:p.Pro100= | |
| ENST00000684193.1:n.1455A>G (DPM1) | ||
| ENST00000371588.10:c.684A>G (DPM1) MANE Select | ENSP00000360644.5:p.Pro228= | |
| ENST00000371582.8:c.765A>G (DPM1) | ENSP00000360638.4:p.Pro255= | |
| ENST00000371584.8:c.787A>G (DPM1) | ||
| ENST00000371588.9:c.684A>G (DPM1) | ENSP00000360644.5:p.Pro228= | |
| ENST00000466152.5:n.733A>G (DPM1) | ||
| ENST00000494752.1:n.454A>G (DPM1) | ||
| NM_001317034.1:c.789A>G (DPM1) | NP_001303963.1:p.Pro263= | |
| NM_001317035.1:c.765A>G (DPM1) | NP_001303964.1:p.Pro255= | |
| NM_001317036.1:c.615A>G (DPM1) | NP_001303965.1:p.Pro205= | |
| NM_003859.1:c.684A>G (DPM1) | NP_003850.1:p.Pro228= | |
| NM_003859.2:c.684A>G (DPM1) | NP_003850.1:p.Pro228= | |
| NR_110007.1:n.250+1404T>C (ADNP-AS1) | ||
| NR_110008.1:n.149+3782T>C (ADNP-AS1) | ||
| NR_110009.1:n.146+3782T>C (ADNP-AS1) | ||
| NR_133648.1:n.747A>G (DPM1) | ||
| XR_002958550.1:n.747A>G (DPM1) | ||
| XR_002958551.1:n.628A>G (DPM1) | ||
| NM_003859.3:c.684A>G (DPM1) MANE Select | NP_003850.1:p.Pro228= | |
| NR_133648.2:n.715A>G (DPM1) |