Canonical Allele Identifier: CA43192066

Gene: MYCN MYCNOS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15941822G>A , CM000664.2:g.15941822G>A	GRCh38
NC_000002.11:g.16081944G>A , CM000664.1:g.16081944G>A	GRCh37
NC_000002.10:g.15999395G>A	NCBI36
NG_007457.1:g.6262G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005378.6:c.-117-126G>A (MYCN) MANE Select	NP_005369.2:n.-117-126G>A
ENST00000281043.4:c.-117-126G>A (MYCN) MANE Select	ENSP00000281043.3:n.-117-126G>A
NM_001293228.1:c.-117-126G>A (MYCN)	NP_001280157.1:n.-117-126G>A
NM_001293228.2:c.-117-126G>A (MYCN)	NP_001280157.1:n.-117-126G>A
NM_001293231.1:c.157+1079G>A (MYCN)	NP_001280160.1:n.157+1079G>A
NM_001293231.2:c.157+1079G>A (MYCN)	NP_001280160.1:n.157+1079G>A
NM_001293233.1:c.158-126G>A (MYCN)	NP_001280162.1:n.158-126G>A
NM_001293233.2:c.158-126G>A (MYCN)	NP_001280162.1:n.158-126G>A
NM_001329968.1:c.-234+330C>T (MYCNOS)	NP_001316897.1:n.-234+330C>T
NM_005378.5:c.-117-126G>A (MYCN)	NP_005369.2:n.-117-126G>A
NR_161163.1:n.282+330C>T (MYCNOS)
ENST00000281043.3:c.-117-126G>A (MYCN)	ENSP00000281043.3:n.-117-126G>A
ENST00000638417.1:c.157+1079G>A (MYCN)	ENSP00000491476.1:n.157+1079G>A
XM_024452527.1:c.278C>T (MYCNOS)	XP_024308295.1:p.Pro93Leu
XM_024452528.1:c.-234+560C>T (MYCNOS)	XP_024308296.1:n.-234+560C>T
XM_024452529.1:c.-234+99C>T (MYCNOS)	XP_024308297.1:n.-234+99C>T