Canonical Allele Identifier: CA345932445

Gene: MYCN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945879C>T , CM000664.2:g.15945879C>T	GRCh38
NC_000002.11:g.16086001C>T , CM000664.1:g.16086001C>T	GRCh37
NC_000002.10:g.16003452C>T	NCBI36
NG_007457.1:g.10319C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005378.6:c.1177C>T MANE Select	NP_005369.2:p.Arg393Cys
ENST00000281043.4:c.1177C>T MANE Select	ENSP00000281043.3:p.Arg393Cys
NM_001293228.1:c.1177C>T	NP_001280157.1:p.Arg393Cys
NM_001293228.2:c.1177C>T	NP_001280157.1:p.Arg393Cys
NM_001293231.1:c.544C>T	NP_001280160.1:p.Arg182Cys
NM_001293231.2:c.544C>T	NP_001280160.1:p.Arg182Cys
NM_001293233.1:c.*1112C>T	NP_001280162.1:n.*1112C>T
NM_001293233.2:c.*1112C>T	NP_001280162.1:n.*1112C>T
NM_005378.5:c.1177C>T	NP_005369.2:p.Arg393Cys
ENST00000281043.3:c.1177C>T	ENSP00000281043.3:p.Arg393Cys
ENST00000638417.1:c.544C>T	ENSP00000491476.1:p.Arg182Cys
ENST00000703162.1:n.526C>T