Linked Data
ClinVar Variation Id:
1123790
ClinVar RCV Id:
RCV001454934
dbSNP Id:
rs2123056796
MyVariant Identifiers:
chr20:g.49551750A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50935213A>G , CM000682.2:g.50935213A>G | GRCh38 |
| NC_000020.10:g.49551750A>G , CM000682.1:g.49551750A>G | GRCh37 |
| NC_000020.9:g.48985157A>G | NCBI36 |
| NG_008923.1:g.28311T>C | |
| NG_034200.1:g.778T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.807T>C (DPM1) | ENSP00000360640.5:p.Arg269= | |
| ENST00000682366.1:n.1958T>C (DPM1) | ||
| ENST00000682713.1:n.1182T>C (DPM1) | ||
| ENST00000683048.1:c.*217T>C (DPM1) | ENSP00000506986.1:n.*217T>C | |
| ENST00000683466.1:c.318T>C (DPM1) | ENSP00000507404.1:p.Arg106= | |
| ENST00000684193.1:n.1473T>C (DPM1) | ||
| ENST00000371588.10:c.702T>C (DPM1) MANE Select | ENSP00000360644.5:p.Arg234= | |
| ENST00000371582.8:c.783T>C (DPM1) | ENSP00000360638.4:p.Arg261= | |
| ENST00000371584.8:c.805T>C (DPM1) | ||
| ENST00000371588.9:c.702T>C (DPM1) | ENSP00000360644.5:p.Arg234= | |
| ENST00000466152.5:n.751T>C (DPM1) | ||
| ENST00000494752.1:n.472T>C (DPM1) | ||
| NM_001317034.1:c.807T>C (DPM1) | NP_001303963.1:p.Arg269= | |
| NM_001317035.1:c.783T>C (DPM1) | NP_001303964.1:p.Arg261= | |
| NM_001317036.1:c.633T>C (DPM1) | NP_001303965.1:p.Arg211= | |
| NM_003859.1:c.702T>C (DPM1) | NP_003850.1:p.Arg234= | |
| NM_003859.2:c.702T>C (DPM1) | NP_003850.1:p.Arg234= | |
| NR_110007.1:n.250+1386A>G (ADNP-AS1) | ||
| NR_110008.1:n.149+3764A>G (ADNP-AS1) | ||
| NR_110009.1:n.146+3764A>G (ADNP-AS1) | ||
| NR_133648.1:n.765T>C (DPM1) | ||
| XR_002958550.1:n.765T>C (DPM1) | ||
| XR_002958551.1:n.646T>C (DPM1) | ||
| NM_003859.3:c.702T>C (DPM1) MANE Select | NP_003850.1:p.Arg234= | |
| NR_133648.2:n.733T>C (DPM1) |