Revel Score:
ENST00000281043 (MANE Select)
0.425
ENST00000426211
0.425
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15942195C>T , CM000664.2:g.15942195C>T | GRCh38 |
| NC_000002.11:g.16082317C>T , CM000664.1:g.16082317C>T | GRCh37 |
| NC_000002.10:g.15999768C>T | NCBI36 |
| NG_007457.1:g.6635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281043.4:c.131C>T (MYCN) MANE Select | ENSP00000281043.3:p.Pro44Leu | |
| ENST00000638417.1:c.157+1452C>T (MYCN) | ENSP00000491476.1:n.157+1452C>T | |
| ENST00000281043.3:c.131C>T (MYCN) | ENSP00000281043.3:p.Pro44Leu | |
| NM_001293228.1:c.131C>T (MYCN) | NP_001280157.1:p.Pro44Leu | |
| NM_001293231.1:c.157+1452C>T (MYCN) | NP_001280160.1:n.157+1452C>T | |
| NM_001293233.1:c.*66C>T (MYCN) | NP_001280162.1:n.*66C>T | |
| NM_005378.5:c.131C>T (MYCN) | NP_005369.2:p.Pro44Leu | |
| NM_001329968.1:c.-277G>A (MYCNOS) | NP_001316897.1:n.-277G>A | |
| XM_024452528.1:c.-234+187G>A (MYCNOS) | XP_024308296.1:n.-234+187G>A | |
| NM_005378.6:c.131C>T (MYCN) MANE Select | NP_005369.2:p.Pro44Leu | |
| NM_001293228.2:c.131C>T (MYCN) | NP_001280157.1:p.Pro44Leu | |
| NM_001293231.2:c.157+1452C>T (MYCN) | NP_001280160.1:n.157+1452C>T | |
| NM_001293233.2:c.*66C>T (MYCN) | NP_001280162.1:n.*66C>T | |
| NR_161163.1:n.239G>A (MYCNOS) |