Linked Data
ClinVar Variation Id:
100636
ClinVar RCV Id:
RCV003148647
dbSNP Id:
rs587777116
gnomAD v2:
20-49558607-C-A
gnomAD v4:
20-50942070-C-A
PubMed:
PMID:23856421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50942070C>A , CM000682.2:g.50942070C>A | GRCh38 |
| NC_000020.10:g.49558607C>A , CM000682.1:g.49558607C>A | GRCh37 |
| NC_000020.9:g.48992014C>A | NCBI36 |
| NG_008923.1:g.21454G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371584.9:c.455G>T (DPM1) | ENSP00000360640.5:p.Gly152Val | |
| ENST00000681979.1:n.433G>T (DPM1) | ||
| ENST00000682366.1:n.800G>T (DPM1) | ||
| ENST00000682713.1:n.1004G>T (DPM1) | ||
| ENST00000682754.1:n.537G>T (DPM1) | ||
| ENST00000683010.1:n.2162G>T (DPM1) | ||
| ENST00000683048.1:c.*39G>T (DPM1) | ENSP00000506986.1:n.*39G>T | |
| ENST00000683466.1:c.140G>T (DPM1) | ENSP00000507404.1:p.Gly47Val | |
| ENST00000684193.1:n.1204G>T (DPM1) | ||
| ENST00000684708.1:n.468G>T (DPM1) | ||
| ENST00000371588.10:c.455G>T (DPM1) MANE Select | ENSP00000360644.5:p.Gly152Val | |
| ENST00000371582.8:c.455G>T (DPM1) | ENSP00000360638.4:p.Gly152Val | |
| ENST00000371584.8:c.453G>T (DPM1) | ||
| ENST00000371588.9:c.455G>T (DPM1) | ENSP00000360644.5:p.Gly152Val | |
| ENST00000413082.1:c.399-861G>T (DPM1) | ENSP00000394921.1:n.399-861G>T | |
| ENST00000466152.5:n.482G>T (DPM1) | ||
| ENST00000494752.1:n.98G>T (DPM1) | ||
| NM_001317034.1:c.455G>T (DPM1) | NP_001303963.1:p.Gly152Val | |
| NM_001317035.1:c.455G>T (DPM1) | NP_001303964.1:p.Gly152Val | |
| NM_001317036.1:c.455G>T (DPM1) | NP_001303965.1:p.Gly152Val | |
| NM_003859.1:c.455G>T (DPM1) | NP_003850.1:p.Gly152Val | |
| NM_003859.2:c.455G>T (DPM1) | NP_003850.1:p.Gly152Val | |
| NR_110007.1:n.251-2287C>A (ADNP-AS1) | ||
| NR_110008.1:n.150-2287C>A (ADNP-AS1) | ||
| NR_110009.1:n.147-2287C>A (ADNP-AS1) | ||
| NR_133648.1:n.496G>T (DPM1) | ||
| XM_011529093.1:c.455G>T (DPM1) | XP_011527395.1:p.Gly152Val | |
| XM_011529094.1:c.*39G>T (DPM1) | XP_011527396.1:n.*39G>T | |
| XR_002958550.1:n.493G>T (DPM1) | ||
| XR_002958551.1:n.468G>T (DPM1) | ||
| NM_003859.3:c.455G>T (DPM1) MANE Select | NP_003850.1:p.Gly152Val | |
| NR_133648.2:n.464G>T (DPM1) |