(used for variant description)
(last modified March 24, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_005378.4 in the MYCN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering MYCN transcript NM_005378.4.
(upstream sequence)
. . . . . . g.5060
gtcatctgtctggacgcgctgggtggatgcggggggctcctgggaactgtgttggagccg c.-241
. . . . . . g.5120
agcaagcgctagccaggcgcaagcgcgcacagactgtagccatccgaggacacccccgcc c.-181
. . . . . . g.5180
cccccggcccacccggagacacccgcgcagaatcgcctccggatcccctgcagtcggcgg c.-121
. | 02 . . . . . g.6444
gag | tgttggaggtcggcgccggcccccgccttccgcgccccccacgggaaggaagcaccc c.-61
. . . . . . g.6504
ccggtattaaaacgaacggggcggaaagaagccctcagtcgccggccgggaggcgagccg c.-1
. . . . . . g.6564
ATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAG c.60
M P S C S T S T M P G M I C K N P D L E p.20
. . . . . . g.6624
TTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCC c.120
F D S L Q P C F Y P D E D D F Y F G G P p.40
. . . . . . g.6684
GACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCACGCCCCCG c.180
D S T P P G E D I W K K F E L L P T P P p.60
. . . . . . g.6744
CTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAG c.240
L S P S R G F A E H S S E P P S W V T E p.80
. . . . . . g.6804
ATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGG c.300
M L L E N E L W G S P A E E D A F G L G p.100
. . . . . . g.6864
GGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTC c.360
G L G G L T P N P V I L Q D C M W S G F p.120
. . . . . . g.6924
TCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCG c.420
S A R E K L E R A V S E K L Q H G R G P p.140
. . . . . . g.6984
CCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGC c.480
P T A G S T A Q S P G A G A A S P A G R p.160
. . . . . . g.7044
GGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCC c.540
G H G G A A G A G R A G A A L P A E L A p.180
. . . . . . g.7104
CACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGC c.600
H P A A E C V D P A V V F P F P V N K R p.200
. . . . . . g.7164
GAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCC c.660
E P A P V P A A P A S A P A A G P A V A p.220
. . . . . . g.7224
TCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGC c.720
S G A G I A A P A G A P G V A P P R P G p.240
. . . . . . g.7284
GGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTG c.780
G R Q T S G G D H K A L S T S G E D T L p.260
. | 03 . . . . . g.9982
AGCGATTCAG | ATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTC c.840
S D S D | D E D D E E E D E E E E I D V V p.280
. . . . . . g.10042
ACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACT c.900
T V E K R R S S S N T K A V T T F T I T p.300
. . . . . . g.10102
GTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTC c.960
V R P K N A A L G P G R A Q S S E L I L p.320
. . . . . . g.10162
AAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAG c.1020
K R C L P I H Q Q H N Y A A P S P Y V E p.340
. . . . . . g.10222
AGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAG c.1080
S E D A P P Q K K I K S E A S P R P L K p.360
. . . . . . g.10282
AGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGT c.1140
S V I P P K A K S L S P R N S D S E D S p.380
. . . . . . g.10342
GAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGC c.1200
E R R R N H N I L E R Q R R N D L R S S p.400
. . . . . . g.10402
TTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTG c.1260
F L T L R D H V P E L V K N E K A A K V p.420
. . . . . . g.10462
GTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTT c.1320
V I L K K A T E Y V H S L Q A E E H Q L p.440
. . . . . . g.10522
TTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACAC c.1380
L L E K E K L Q A R Q Q Q L L K K I E H p.460
. g.10537
GCTCGGACTTGCTAG c.1395
A R T C X p.464
. . . . . . g.10597
acgcttctcaaaactggacagtcactgccactttgcacattttgattttttttttaaaca c.*60
. . . . . . g.10657
aacattgtgttgacattaagaatgttggtttactttcaaatcggtcccctgtcgagttcg c.*120
. . . . . . g.10717
gctctgggtgggcagtaggaccaccagtgtggggttctgctgggaccttggagagcctgc c.*180
. . . . . . g.10777
atcccaggatgctgggtggccctgcagcctcctccacctcacctccatgacagcgctaaa c.*240
. . . . . . g.10837
cgttggtgacggttgggagcctctggggctgttgaagtcaccttgtgtgttccaagtttc c.*300
. . . . . . g.10897
caaacaacagaaagtcattccttctttttaaaatggtgcttaagttccagcagatgccac c.*360
. . . . . . g.10957
ataaggggtttgccatttgatacccctggggaacatttctgtaaataccattgacacatc c.*420
. . . . . . g.11017
cgccttttgtatacatcctgggtaatgagaggtggcttttgcggccagtattagactgga c.*480
. . . . . . g.11077
agttcatacctaagtactgtaataatacctcaatgtttgaggagcatgttttgtatacaa c.*540
. . . . . . g.11137
atatattgttaatctctgttatgtactgtactaattcttacactgcctgtatactttagt c.*600
. . . . . . g.11197
atgacgctgatacataactaaatttgatacttatattttcgtatgaaaatgagttgtgaa c.*660
. . . . . . g.11257
agttttgagtagatattactttatcactttttgaactaagaaacttttgtaaagaaattt c.*720
. . . . . . g.11317
actatatatatatgcctttttcctagcctgtttcttcctgttaatgtatttgttcatgtt c.*780
. . . . . . g.11377
tggtgcatagaactgggtaaatgcaaagttctgtgtttaatttcttcaaaatgtatatat c.*840
. . . . . . g.11437
ttagtgctgcatcttatagcactttgaaatacctcatgtttatgaaaataaatagcttaa c.*900
. g.11447
aattaaatga c.*910
(downstream sequence)
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