nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1) - coding DNA reference sequence

(used for variant description)

(last modified November 18, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002520.6 in the NPM1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016018.1, covering NPM1 transcript NM_002520.6.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                                                    g.5005
                                                        agaaa       c.-241

 .         .         .         .         .         .                g.5065
 ggagtggggttgaaaagcgcttgcgcaggacggctacggtacgggggtgggagggcttcg       c.-181

 .         .         .         .         .         .                g.5125
 gagcacgcgcgcggaggcgggacttgggaagcgctcgcgagatcttcagggtctatatat       c.-121

 .         .         .         .         .         .                g.5185
 aagcgcggggagcctgcgtcctttccctggtgtgattccgtcctgcgcggttgttctctg       c.-61

 .         .         .         .         .         .                g.5245
 gagcagcgttcttttatctccgtccgccttctctcctacctaagtgcgtgccgccacccg       c.-1

          .         .         .         .         .         | 02    g.7349
 ATGGAAGATTCGATGGACATGGACATGAGCCCCCTGAGGCCCCAGAACTATCTTTTCG | GT    c.60
 M  E  D  S  M  D  M  D  M  S  P  L  R  P  Q  N  Y  L  F  G |       p.20

          .         .         .         .         .         .       g.7409
 TGTGAACTAAAGGCCGACAAAGATTATCACTTTAAGGTGGATAATGATGAAAATGAGCAC       c.120
 C  E  L  K  A  D  K  D  Y  H  F  K  V  D  N  D  E  N  E  H         p.40

          .         | 03         .         .         .         .    g.8643
 CAGTTATCTTTAAGAACG | GTCAGTTTAGGGGCTGGTGCAAAGGATGAGTTGCACATTGTT    c.180
 Q  L  S  L  R  T   | V  S  L  G  A  G  A  K  D  E  L  H  I  V      p.60

          .         .         .         .         .         .       g.8703
 GAAGCAGAGGCAATGAATTACGAAGGCAGTCCAATTAAAGTAACACTGGCAACTTTGAAA       c.240
 E  A  E  A  M  N  Y  E  G  S  P  I  K  V  T  L  A  T  L  K         p.80

          .         | 04         .         .         .         .    g.9044
 ATGTCTGTACAGCCAACG | GTTTCCCTTGGGGGCTTTGAAATAACACCACCAGTGGTCTTA    c.300
 M  S  V  Q  P  T   | V  S  L  G  G  F  E  I  T  P  P  V  V  L      p.100

          .         .         .         .         .   | 05     .    g.10014
 AGGTTGAAGTGTGGTTCAGGGCCAGTGCATATTAGTGGACAGCACTTAGTAG | CTGTGGAG    c.360
 R  L  K  C  G  S  G  P  V  H  I  S  G  Q  H  L  V  A |   V  E      p.120

          .         .         .         .         .         .       g.10074
 GAAGATGCAGAGTCAGAAGATGAAGAGGAGGAGGATGTGAAACTCTTAAGTATATCTGGA       c.420
 E  D  A  E  S  E  D  E  E  E  E  D  V  K  L  L  S  I  S  G         p.140

          .         .         .          | 06        .         .    g.10231
 AAGCGGTCTGCCCCTGGAGGTGGTAGCAAGGTTCCACAG | AAAAAAGTAAAACTTGCTGCT    c.480
 K  R  S  A  P  G  G  G  S  K  V  P  Q   | K  K  V  K  L  A  A      p.160

          .         .         .         .     | 07   .         .    g.17465
 GATGAAGATGATGACGATGATGATGAAGAGGATGATGATGAAGA | TGATGATGATGATGAT    c.540
 D  E  D  D  D  D  D  D  E  E  D  D  D  E  D  |  D  D  D  D  D      p.180

          .         .         .         .   | 08     .         .    g.18153
 TTTGATGATGAGGAAGCTGAAGAAAAAGCGCCAGTGAAGAAA | TCTATACGAGATACTCCA    c.600
 F  D  D  E  E  A  E  E  K  A  P  V  K  K   | S  I  R  D  T  P      p.200

          .         .         .         .         .         .       g.18213
 GCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCA       c.660
 A  K  N  A  Q  K  S  N  Q  N  G  K  D  S  K  P  S  S  T  P         p.220

           | 09        .         .         .         .         .    g.22649
 AGATCAAAA | GGACAAGAATCCTTCAAGAAACAGGAAAAAACTCCTAAAACACCAAAAGGA    c.720
 R  S  K   | G  Q  E  S  F  K  K  Q  E  K  T  P  K  T  P  K  G      p.240

          .         .         .         .         .  | 10      .    g.25005
 CCTAGTTCTGTAGAAGACATTAAAGCAAAAATGCAAGCAAGTATAGAAAAA | GGTGGTTCT    c.780
 P  S  S  V  E  D  I  K  A  K  M  Q  A  S  I  E  K   | G  G  S      p.260

          .         .         .         .         .         .       g.25065
 CTTCCCAAAGTGGAAGCCAAATTCATCAATTATGTGAAGAATTGCTTCCGGATGACTGAC       c.840
 L  P  K  V  E  A  K  F  I  N  Y  V  K  N  C  F  R  M  T  D         p.280

        | 11 .         .         .         .                        g.27877
 CAAGAG | GCTATTCAAGATCTCTGGCAGTGGAGGAAGTCTCTTTAA                   c.885
 Q  E   | A  I  Q  D  L  W  Q  W  R  K  S  L  X                     p.294

          .         .         .         .         .         .       g.27937
 gaaaatagtttaaacaatttgttaaaaaattttccgtcttatttcatttctgtaacagtt       c.*60

          .         .         .         .         .         .       g.27997
 gatatctggctgtcctttttataatgcagagtgagaactttccctaccgtgtttgataaa       c.*120

          .         .         .         .         .         .       g.28057
 tgttgtccaggttctattgccaagaatgtgttgtccaaaatgcctgtttagtttttaaag       c.*180

          .         .         .         .         .         .       g.28117
 atggaactccaccctttgcttggttttaagtatgtatggaatgttatgataggacatagt       c.*240

          .         .         .         .         .         .       g.28177
 agtagcggtggtcagacatggaaatggtggggagacaaaaatatacatgtgaaataaaac       c.*300

          .                                                         g.28196
 tcagtattttaataaagta                                                c.*319

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Nucleophosmin (nucleolar phosphoprotein B23, numatrin) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.