Canonical Allele Identifier: CA345929975

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942084C>T , CM000664.2:g.15942084C>T GRCh38
NC_000002.11:g.16082206C>T , CM000664.1:g.16082206C>T GRCh37
NC_000002.10:g.15999657C>T NCBI36
NG_007457.1:g.6524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281043.4:c.20C>T (MYCN) MANE Select ENSP00000281043.3:p.Ser7Phe
ENST00000638417.1:c.157+1341C>T (MYCN) ENSP00000491476.1:n.157+1341C>T
ENST00000281043.3:c.20C>T (MYCN) ENSP00000281043.3:p.Ser7Phe
NM_001293228.1:c.20C>T (MYCN) NP_001280157.1:p.Ser7Phe
NM_001293231.1:c.157+1341C>T (MYCN) NP_001280160.1:n.157+1341C>T
NM_001293233.1:c.294C>T (MYCN) NP_001280162.1:p.Val98=
NM_005378.5:c.20C>T (MYCN) NP_005369.2:p.Ser7Phe
NM_001329968.1:c.-234+68G>A (MYCNOS) NP_001316897.1:n.-234+68G>A
XM_024452527.1:c.16G>A (MYCNOS) XP_024308295.1:p.Asp6Asn
XM_024452528.1:c.-234+298G>A (MYCNOS) XP_024308296.1:n.-234+298G>A
NM_005378.6:c.20C>T (MYCN) MANE Select NP_005369.2:p.Ser7Phe
NM_001293228.2:c.20C>T (MYCN) NP_001280157.1:p.Ser7Phe
NM_001293231.2:c.157+1341C>T (MYCN) NP_001280160.1:n.157+1341C>T
NM_001293233.2:c.294C>T (MYCN) NP_001280162.1:p.Val98=
NR_161163.1:n.282+68G>A (MYCNOS)