(used for variant description)
(last modified May 28, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_006392.3 in the NOP56 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering NOP56 transcript NM_006392.3.
(upstream sequence)
g.5009
caaaggccg c.-121
. . . . . . g.5069
gagatggtgtcgtccccggcctccgattggtcgggggggcgggggcgtggcctctggagc c.-61
. . . . . . g.5129
ctggttccgcgcgccggagcgcgctagccgcattgcgagccgaacccgggagctggcgcc c.-1
| 02 . . . . . . g.5367
ATG | GTGCTGTTGCACGTGCTGTTTGAGCACGCGGTCGGCTACGCGCTGCTGGCGCTGAAG c.60
M | V L L H V L F E H A V G Y A L L A L K p.20
. . . | 03 . . . g.5774
GAAGTGGAGGAGATCAGTCTGCTGCAGCCGCAG | GTGGAGGAGTCTGTGCTCAACCTGGGC c.120
E V E E I S L L Q P Q | V E E S V L N L G p.40
. . . . . . g.5834
AAATTCCACAGCATCGTTCGTCTGGTGGCCTTTTGTCCCTTTGCCTCATCCCAGGTTGCC c.180
K F H S I V R L V A F C P F A S S Q V A p.60
. . | 04 . . . g.6914
TTGGAAAATGCCAACGCCGTGTCTGAAG | GGGTTGTTCATGAGGACCTCCGCCTGCTCTTG c.240
L E N A N A V S E G | V V H E D L R L L L p.80
. . . . . . g.6974
GAGACCCACCTGCCGTCCAAAAAGAAGAAAGTACTCTTGGGAGTTGGGGATCCCAAGATT c.300
E T H L P S K K K K V L L G V G D P K I p.100
. . . . . . g.7034
GGTGCCGCAATACAGGAGGAGTTAGGGTACAACTGCCAGACTGGAGGAGTCATAGCTGAG c.360
G A A I Q E E L G Y N C Q T G G V I A E p.120
. | 05 . . . . . g.7267
ATCCTGCGAG | GAGTTCGTCTGCACTTCCACAATCTGGTGAAGGGTCTGACCGATCTGTCA c.420
I L R G | V R L H F H N L V K G L T D L S p.140
. . . . . . g.7327
GCTTGTAAAGCACAGCTGGGGCTGGGACACAGCTATTCCCGTGCCAAAGTTAAGTTTAAT c.480
A C K A Q L G L G H S Y S R A K V K F N p.160
. . . . . . g.7387
GTGAACCGGGTGGACAATATGATCATCCAGTCCATTAGCCTCCTGGACCAGCTGGATAAG c.540
V N R V D N M I I Q S I S L L D Q L D K p.180
. . | 06 . . . g.7824
GACATCAATACCTTCTCTATGCGTGTCAG | GGAGTGGTACGGGTATCACTTTCCGGAGCTG c.600
D I N T F S M R V R | E W Y G Y H F P E L p.200
. . . . . . g.7884
GTGAAGATCATCAACGACAATGCCACATACTGCCGTCTTGCCCAGTTTATTGGAAACCGA c.660
V K I I N D N A T Y C R L A Q F I G N R p.220
. . . . . . g.7944
AGGGAACTGAATGAGGACAAGCTGGAGAAGCTGGAGGAGCTGACAATGGATGGGGCCAAG c.720
R E L N E D K L E K L E E L T M D G A K p.240
. . . | 07. . . g.8086
GCTAAGGCTATTCTGGATGCCTCACGGTCCTCCATGG | GCATGGACATATCTGCCATTGAC c.780
A K A I L D A S R S S M G | M D I S A I D p.260
. . . . . . g.8146
TTGATAAACATCGAGAGCTTCTCCAGTCGTGTGGTGTCTTTATCTGAATACCGCCAGAGC c.840
L I N I E S F S S R V V S L S E Y R Q S p.280
. . . . . . g.8206
CTACACACTTACCTGCGCTCCAAGATGAGCCAAGTAGCCCCCAGCCTGTCAGCCCTAATT c.900
L H T Y L R S K M S Q V A P S L S A L I p.300
| 08 . . . . . g.8453
GGGGAAGCG | GTAGGTGCACGTCTCATCGCACATGCTGGCAGCCTCACCAACCTGGCCAAG c.960
G E A | V G A R L I A H A G S L T N L A K p.320
. . . . . | 09 . g.8879
TATCCAGCATCCACAGTGCAGATCCTTGGGGCTGAAAAGGCCCTGTTCAG | AGCCCTGAAG c.1020
Y P A S T V Q I L G A E K A L F R | A L K p.340
. . . . . . g.8939
ACAAGGGGTAACACTCCAAAATATGGACTCATTTTCCACTCCACCTTCATTGGCCGAGCA c.1080
T R G N T P K Y G L I F H S T F I G R A p.360
. . . . . . g.8999
GCTGCCAAGAACAAAGGCCGCATCTCCCGATACCTGGCAAACAAATGCAGTATTGCCTCA c.1140
A A K N K G R I S R Y L A N K C S I A S p.380
. | 10 . . . . g.9283
CGAATCGATTGCTTCTCTG | AGGTGCCCACGAGTGTATTCGGGGAGAAGCTTCGAGAACAA c.1200
R I D C F S E | V P T S V F G E K L R E Q p.400
. . . . . . g.9343
GTTGAAGAGCGACTGTCCTTCTATGAGACTGGAGAGATACCACGAAAGAATCTGGATGTC c.1260
V E E R L S F Y E T G E I P R K N L D V p.420
. . | 11 . . . . g.9588
ATGAAGGAAGCAATGGTTCAG | GCAGAGGAAGCGGCTGCTGAGATTACTAGGAAGCTGGAG c.1320
M K E A M V Q | A E E A A A E I T R K L E p.440
. . . . . . g.9648
AAACAGGAGAAGAAACGCTTAAAGAAGGAAAAGAAACGGCTGGCTGCACTTGCCCTCGCG c.1380
K Q E K K R L K K E K K R L A A L A L A p.460
. . . | 12 . . g.10418
TCTTCAGAAAACAGCAGTAGTACTCCAGAGGAGTGTGAG | GAGATGAGTGAAAAACCCAAA c.1440
S S E N S S S T P E E C E | E M S E K P K p.480
. . . . . . g.10478
AAGAAGAAAAAGCAAAAGCCCCAGGAGGTTCCTCAGGAGAATGGAATGGAAGACCCATCT c.1500
K K K K Q K P Q E V P Q E N G M E D P S p.500
. . . . . . g.10538
ATCTCTTTCTCCAAACCCAAGAAAAAGAAATCTTTTTCCAAGGAGGAGTTGATGAGTAGC c.1560
I S F S K P K K K K S F S K E E L M S S p.520
. . . . . . g.10598
GATCTTGAAGAGACCGCTGGCAGCACCAGTATTCCCAAGAGGAAGAAGTCTACACCCAAG c.1620
D L E E T A G S T S I P K R K K S T P K p.540
. . . . . . g.10658
GAGGAAACAGTTAATGACCCTGAGGAGGCAGGCCACAGAAGTGGCTCCAAGAAAAAGAGG c.1680
E E T V N D P E E A G H R S G S K K K R p.560
. . . . . . g.10718
AAATTCTCCAAAGAGGAGCCGGTCAGCAGTGGGCCTGAAGAGGCGGTTGGCAAGAGCAGC c.1740
K F S K E E P V S S G P E E A V G K S S p.580
. . . . g.10763
TCCAAGAAGAAGAAAAAGTTCCATAAAGCATCCCAGGAAGATTAG c.1785
S K K K K K F H K A S Q E D X p.594
. . . . . . g.10823
aatgcaaatggacattctctgggaggtggggcataccatagcccaaggtgacatttccca c.*60
. . . g.10862
ccctgtgccgtgttccccaataaaaacaaattcacaaga c.*99
(downstream sequence)
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