Linked Data
ClinVar Variation Id:
850062
ClinVar RCV Id:
RCV001054152
dbSNP Id:
rs1205339617
gnomAD v2:
20-49551698-C-T
gnomAD v3:
20-50935161-C-T
gnomAD v4:
20-50935161-C-T
COSMIC:
COSM5858107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50935161C>T , CM000682.2:g.50935161C>T | GRCh38 |
| NC_000020.10:g.49551698C>T , CM000682.1:g.49551698C>T | GRCh37 |
| NC_000020.9:g.48985105C>T | NCBI36 |
| NG_008923.1:g.28363G>A | |
| NG_034200.1:g.830G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.859G>A (DPM1) | ENSP00000360640.5:p.Gly287Arg | |
| ENST00000682366.1:n.2010G>A (DPM1) | ||
| ENST00000682713.1:n.1234G>A (DPM1) | ||
| ENST00000683048.1:c.*269G>A (DPM1) | ENSP00000506986.1:n.*269G>A | |
| ENST00000683466.1:c.370G>A (DPM1) | ENSP00000507404.1:p.Gly124Arg | |
| ENST00000684193.1:n.1525G>A (DPM1) | ||
| ENST00000371588.10:c.754G>A (DPM1) MANE Select | ENSP00000360644.5:p.Gly252Arg | |
| ENST00000371582.8:c.835G>A (DPM1) | ENSP00000360638.4:p.Gly279Arg | |
| ENST00000371584.8:c.857G>A (DPM1) | ||
| ENST00000371588.9:c.754G>A (DPM1) | ENSP00000360644.5:p.Gly252Arg | |
| ENST00000466152.5:n.803G>A (DPM1) | ||
| ENST00000494752.1:n.524G>A (DPM1) | ||
| NM_001317034.1:c.859G>A (DPM1) | NP_001303963.1:p.Gly287Arg | |
| NM_001317035.1:c.835G>A (DPM1) | NP_001303964.1:p.Gly279Arg | |
| NM_001317036.1:c.685G>A (DPM1) | NP_001303965.1:p.Gly229Arg | |
| NM_003859.1:c.754G>A (DPM1) | NP_003850.1:p.Gly252Arg | |
| NM_003859.2:c.754G>A (DPM1) | NP_003850.1:p.Gly252Arg | |
| NR_110007.1:n.250+1334C>T (ADNP-AS1) | ||
| NR_110008.1:n.149+3712C>T (ADNP-AS1) | ||
| NR_110009.1:n.146+3712C>T (ADNP-AS1) | ||
| NR_133648.1:n.817G>A (DPM1) | ||
| XR_002958550.1:n.817G>A (DPM1) | ||
| XR_002958551.1:n.698G>A (DPM1) | ||
| NM_003859.3:c.754G>A (DPM1) MANE Select | NP_003850.1:p.Gly252Arg | |
| NR_133648.2:n.785G>A (DPM1) |