Linked Data
ClinVar Variation Id:
100634
ClinVar RCV Id:
RCV000087034
dbSNP Id:
rs587777114
gnomAD v4:
20-50935173-A-G
PubMed:
PMID:15669674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50935173A>G , CM000682.2:g.50935173A>G | GRCh38 |
| NC_000020.10:g.49551710A>G , CM000682.1:g.49551710A>G | GRCh37 |
| NC_000020.9:g.48985117A>G | NCBI36 |
| NG_008923.1:g.28351T>C | |
| NG_034200.1:g.818T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.847T>C (DPM1) | ENSP00000360640.5:p.Ser283Pro | |
| ENST00000682366.1:n.1998T>C (DPM1) | ||
| ENST00000682713.1:n.1222T>C (DPM1) | ||
| ENST00000683048.1:c.*257T>C (DPM1) | ENSP00000506986.1:n.*257T>C | |
| ENST00000683466.1:c.358T>C (DPM1) | ENSP00000507404.1:p.Ser120Pro | |
| ENST00000684193.1:n.1513T>C (DPM1) | ||
| ENST00000371588.10:c.742T>C (DPM1) MANE Select | ENSP00000360644.5:p.Ser248Pro | |
| ENST00000371582.8:c.823T>C (DPM1) | ENSP00000360638.4:p.Ser275Pro | |
| ENST00000371584.8:c.845T>C (DPM1) | ||
| ENST00000371588.9:c.742T>C (DPM1) | ENSP00000360644.5:p.Ser248Pro | |
| ENST00000466152.5:n.791T>C (DPM1) | ||
| ENST00000494752.1:n.512T>C (DPM1) | ||
| NM_001317034.1:c.847T>C (DPM1) | NP_001303963.1:p.Ser283Pro | |
| NM_001317035.1:c.823T>C (DPM1) | NP_001303964.1:p.Ser275Pro | |
| NM_001317036.1:c.673T>C (DPM1) | NP_001303965.1:p.Ser225Pro | |
| NM_003859.1:c.742T>C (DPM1) | NP_003850.1:p.Ser248Pro | |
| NM_003859.2:c.742T>C (DPM1) | NP_003850.1:p.Ser248Pro | |
| NR_110007.1:n.250+1346A>G (ADNP-AS1) | ||
| NR_110008.1:n.149+3724A>G (ADNP-AS1) | ||
| NR_110009.1:n.146+3724A>G (ADNP-AS1) | ||
| NR_133648.1:n.805T>C (DPM1) | ||
| XR_002958550.1:n.805T>C (DPM1) | ||
| XR_002958551.1:n.686T>C (DPM1) | ||
| NM_003859.3:c.742T>C (DPM1) MANE Select | NP_003850.1:p.Ser248Pro | |
| NR_133648.2:n.773T>C (DPM1) |