Linked Data
ClinVar Variation Id:
338751
dbSNP Id:
rs769964944
ExAC:
20:49551693 T / C
gnomAD v2:
20-49551693-T-C
gnomAD v3:
20-50935156-T-C
gnomAD v4:
20-50935156-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50935156T>C , CM000682.2:g.50935156T>C | GRCh38 |
| NC_000020.10:g.49551693T>C , CM000682.1:g.49551693T>C | GRCh37 |
| NC_000020.9:g.48985100T>C | NCBI36 |
| NG_008923.1:g.28368A>G | |
| NG_034200.1:g.835A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.864A>G (DPM1) | ENSP00000360640.5:p.Leu288= | |
| ENST00000682366.1:n.2015A>G (DPM1) | ||
| ENST00000682713.1:n.1239A>G (DPM1) | ||
| ENST00000683048.1:c.*274A>G (DPM1) | ENSP00000506986.1:n.*274A>G | |
| ENST00000683466.1:c.375A>G (DPM1) | ENSP00000507404.1:p.Leu125= | |
| ENST00000684193.1:n.1530A>G (DPM1) | ||
| ENST00000371588.10:c.759A>G (DPM1) MANE Select | ENSP00000360644.5:p.Leu253= | |
| ENST00000371582.8:c.840A>G (DPM1) | ENSP00000360638.4:p.Leu280= | |
| ENST00000371584.8:c.862A>G (DPM1) | ||
| ENST00000371588.9:c.759A>G (DPM1) | ENSP00000360644.5:p.Leu253= | |
| ENST00000466152.5:n.808A>G (DPM1) | ||
| ENST00000494752.1:n.529A>G (DPM1) | ||
| NM_001317034.1:c.864A>G (DPM1) | NP_001303963.1:p.Leu288= | |
| NM_001317035.1:c.840A>G (DPM1) | NP_001303964.1:p.Leu280= | |
| NM_001317036.1:c.690A>G (DPM1) | NP_001303965.1:p.Leu230= | |
| NM_003859.1:c.759A>G (DPM1) | NP_003850.1:p.Leu253= | |
| NM_003859.2:c.759A>G (DPM1) | NP_003850.1:p.Leu253= | |
| NR_110007.1:n.250+1329T>C (ADNP-AS1) | ||
| NR_110008.1:n.149+3707T>C (ADNP-AS1) | ||
| NR_110009.1:n.146+3707T>C (ADNP-AS1) | ||
| NR_133648.1:n.822A>G (DPM1) | ||
| XR_002958550.1:n.822A>G (DPM1) | ||
| XR_002958551.1:n.703A>G (DPM1) | ||
| NM_003859.3:c.759A>G (DPM1) MANE Select | NP_003850.1:p.Leu253= | |
| NR_133648.2:n.790A>G (DPM1) |