Linked Data
ClinVar Variation Id:
161565
ClinVar RCV Id:
RCV000149100
dbSNP Id:
rs193921062
COSMIC:
COSM1195872
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24214313G>C , CM000676.2:g.24214313G>C | GRCh38 |
| NC_000014.8:g.24683519G>C , CM000676.1:g.24683519G>C | GRCh37 |
| NC_000014.7:g.23753359G>C | NCBI36 |
| NG_051059.1:g.23073C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288087.12:c.400C>G (MDP1) MANE Select | ENSP00000288087.7:p.Leu134Val | |
| ENST00000288087.11:c.400C>G (MDP1) | ENSP00000288087.7:p.Leu134Val | |
| ENST00000396833.2:c.264-162C>G (MDP1) | ENSP00000380045.2:n.264-162C>G | |
| ENST00000525696.5:n.278C>G (MDP1) | ||
| ENST00000530222.5:n.677C>G (MDP1) | ||
| ENST00000531553.1:n.302-162C>G (MDP1) | ||
| ENST00000532557.5:n.361-162C>G (MDP1) | ||
| ENST00000533536.5:n.465-162C>G (MDP1) | ||
| ENST00000534348.5:c.451C>G (NEDD8-MDP1) | ENSP00000431482.1:p.Leu151Val | |
| ENST00000605847.5:c.*234C>G (NEDD8-MDP1) | ENSP00000474249.1:n.*234C>G | |
| NM_001199821.1:c.264-162C>G (MDP1) | NP_001186750.1:n.264-162C>G | |
| NM_001199822.1:c.400C>G (MDP1) | NP_001186751.1:p.Leu134Val | |
| NM_001199823.1:c.451C>G (NEDD8-MDP1) | NP_001186752.1:p.Leu151Val | |
| NM_138476.3:c.400C>G (MDP1) | NP_612485.2:p.Leu134Val | |
| NM_001199823.2:c.451C>G (NEDD8-MDP1) | NP_001186752.1:p.Leu151Val | |
| NR_137630.1:n.607C>G (NEDD8-MDP1) | ||
| NR_137631.1:n.630C>G (NEDD8-MDP1) | ||
| NR_137632.1:n.846C>G (NEDD8-MDP1) | ||
| NM_138476.4:c.400C>G (MDP1) MANE Select | NP_612485.2:p.Leu134Val | |
| NM_001199821.2:c.264-162C>G (MDP1) | NP_001186750.1:n.264-162C>G | |
| NM_001199822.2:c.400C>G (MDP1) | NP_001186751.1:p.Leu134Val | |
| NM_001199823.3:c.451C>G (NEDD8-MDP1) | NP_001186752.1:p.Leu151Val | |
| NR_137630.2:n.589C>G (NEDD8-MDP1) | ||
| NR_137631.2:n.612C>G (NEDD8-MDP1) | ||
| NR_137632.2:n.828C>G (NEDD8-MDP1) |