Canonical Allele Identifier: CA345932472

Gene: MYCN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945892T>C , CM000664.2:g.15945892T>C	GRCh38
NC_000002.11:g.16086014T>C , CM000664.1:g.16086014T>C	GRCh37
NC_000002.10:g.16003465T>C	NCBI36
NG_007457.1:g.10332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.539T>C
ENST00000281043.4:c.1190T>C MANE Select	ENSP00000281043.3:p.Leu397Pro
ENST00000638417.1:c.557T>C	ENSP00000491476.1:p.Leu186Pro
ENST00000281043.3:c.1190T>C	ENSP00000281043.3:p.Leu397Pro
NM_001293228.1:c.1190T>C	NP_001280157.1:p.Leu397Pro
NM_001293231.1:c.557T>C	NP_001280160.1:p.Leu186Pro
NM_001293233.1:c.*1125T>C	NP_001280162.1:n.*1125T>C
NM_005378.5:c.1190T>C	NP_005369.2:p.Leu397Pro
NM_005378.6:c.1190T>C MANE Select	NP_005369.2:p.Leu397Pro
NM_001293228.2:c.1190T>C	NP_001280157.1:p.Leu397Pro
NM_001293231.2:c.557T>C	NP_001280160.1:p.Leu186Pro
NM_001293233.2:c.*1125T>C	NP_001280162.1:n.*1125T>C