Linked Data
ClinVar Variation Id:
704296
ClinVar RCV Id:
RCV000874287
dbSNP Id:
rs749718528
ExAC:
20:49552676 G / A
gnomAD v2:
20-49552676-G-A
gnomAD v3:
20-50936139-G-A
gnomAD v4:
20-50936139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50936139G>A , CM000682.2:g.50936139G>A | GRCh38 |
| NC_000020.10:g.49552676G>A , CM000682.1:g.49552676G>A | GRCh37 |
| NC_000020.9:g.48986083G>A | NCBI36 |
| NG_008923.1:g.27385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.783+9C>T (DPM1) | ENSP00000360640.5:n.783+9C>T | |
| ENST00000681979.1:n.665C>T (DPM1) | ||
| ENST00000682366.1:n.1032C>T (DPM1) | ||
| ENST00000682713.1:n.1158+9C>T (DPM1) | ||
| ENST00000683048.1:c.*193+9C>T (DPM1) | ENSP00000506986.1:n.*193+9C>T | |
| ENST00000683466.1:c.294+9C>T (DPM1) | ENSP00000507404.1:n.294+9C>T | |
| ENST00000684193.1:n.1449+9C>T (DPM1) | ||
| ENST00000684708.1:n.722C>T (DPM1) | ||
| ENST00000371588.10:c.678+9C>T (DPM1) MANE Select | ENSP00000360644.5:n.678+9C>T | |
| ENST00000371582.8:c.759+9C>T (DPM1) | ENSP00000360638.4:n.759+9C>T | |
| ENST00000371584.8:c.781+9C>T (DPM1) | ||
| ENST00000371588.9:c.678+9C>T (DPM1) | ENSP00000360644.5:n.678+9C>T | |
| ENST00000466152.5:n.727+9C>T (DPM1) | ||
| ENST00000494752.1:n.448+9C>T (DPM1) | ||
| NM_001317034.1:c.783+9C>T (DPM1) | NP_001303963.1:n.783+9C>T | |
| NM_001317035.1:c.759+9C>T (DPM1) | NP_001303964.1:n.759+9C>T | |
| NM_001317036.1:c.609+9C>T (DPM1) | NP_001303965.1:n.609+9C>T | |
| NM_003859.1:c.678+9C>T (DPM1) | NP_003850.1:n.678+9C>T | |
| NM_003859.2:c.678+9C>T (DPM1) | NP_003850.1:n.678+9C>T | |
| NR_110007.1:n.250+2312G>A (ADNP-AS1) | ||
| NR_110008.1:n.149+4690G>A (ADNP-AS1) | ||
| NR_110009.1:n.146+4690G>A (ADNP-AS1) | ||
| NR_133648.1:n.741+9C>T (DPM1) | ||
| XR_002958550.1:n.741+9C>T (DPM1) | ||
| XR_002958551.1:n.622+9C>T (DPM1) | ||
| NM_003859.3:c.678+9C>T (DPM1) MANE Select | NP_003850.1:n.678+9C>T | |
| NR_133648.2:n.709+9C>T (DPM1) |