Revel Score:
ENST00000281043 (MANE Select)
0.167
ENST00000426211
0.167
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15942281G>A , CM000664.2:g.15942281G>A | GRCh38 |
| NC_000002.11:g.16082403G>A , CM000664.1:g.16082403G>A | GRCh37 |
| NC_000002.10:g.15999854G>A | NCBI36 |
| NG_007457.1:g.6721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281043.4:c.217G>A (MYCN) MANE Select | ENSP00000281043.3:p.Glu73Lys | |
| ENST00000638417.1:c.157+1538G>A (MYCN) | ENSP00000491476.1:n.157+1538G>A | |
| ENST00000281043.3:c.217G>A (MYCN) | ENSP00000281043.3:p.Glu73Lys | |
| NM_001293228.1:c.217G>A (MYCN) | NP_001280157.1:p.Glu73Lys | |
| NM_001293231.1:c.157+1538G>A (MYCN) | NP_001280160.1:n.157+1538G>A | |
| NM_001293233.1:c.*152G>A (MYCN) | NP_001280162.1:n.*152G>A | |
| NM_005378.5:c.217G>A (MYCN) | NP_005369.2:p.Glu73Lys | |
| XM_024452528.1:c.-234+101C>T (MYCNOS) | XP_024308296.1:n.-234+101C>T | |
| NM_005378.6:c.217G>A (MYCN) MANE Select | NP_005369.2:p.Glu73Lys | |
| NM_001293228.2:c.217G>A (MYCN) | NP_001280157.1:p.Glu73Lys | |
| NM_001293231.2:c.157+1538G>A (MYCN) | NP_001280160.1:n.157+1538G>A | |
| NM_001293233.2:c.*152G>A (MYCN) | NP_001280162.1:n.*152G>A | |
| NR_161163.1:n.153C>T (MYCNOS) |