secreted phosphoprotein 1 (SPP1) - coding DNA reference sequence

(used for variant description)

(last modified January 31, 2025)

This file was created to facilitate the description of sequence variants on transcript NM_001040058.1 in the SPP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering SPP1 transcript NM_001040058.1.

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

 (upstream sequence)
                     .         .         .         .                g.5045
                ctccctgtgttggtggaggatgtctgcagcagcatttaaattctg       c.-121

 .         .         .         .         .         .                g.5105
 ggagggcttggttgtcagcagcagcaggaggaggcagagcacagcatcgtcgggaccaga       c.-61

 .         .         .         .         .      | 02  .             g.6246
 ctcgtctcaggccagttgcagccttctcagccaaacgccgaccaag | gaaaactcactacc    c.-1

          .         .         .         .         .     | 03   .    g.6415
 ATGAGAATTGCAGTGATTTGCTTTTGCCTCCTAGGCATCACCTGTGCCATACCA | GTTAAA    c.60
 M  R  I  A  V  I  C  F  C  L  L  G  I  T  C  A  I  P   | V  K      p.20

          .         .         .    | 04    .         .         .    g.9423
 CAGGCTGATTCTGGAAGTTCTGAGGAAAAGCAG | CTTTACAACAAATACCCAGATGCTGTG    c.120
 Q  A  D  S  G  S  S  E  E  K  Q   | L  Y  N  K  Y  P  D  A  V      p.40

          .         .         .         .         .     | 05   .    g.9749
 GCCACATGGCTAAACCCTGACCCATCTCAGAAGCAGAATCTCCTAGCCCCACAG | AATGCT    c.180
 A  T  W  L  N  P  D  P  S  Q  K  Q  N  L  L  A  P  Q   | N  A      p.60

          .         .         .       | 06 .         .         .    g.10849
 GTGTCCTCTGAAGAAACCAATGACTTTAAACAAGAG | ACCCTTCCAAGTAAGTCCAACGAA    c.240
 V  S  S  E  E  T  N  D  F  K  Q  E   | T  L  P  S  K  S  N  E      p.80

          .         .         .         .         .         .       g.10909
 AGCCATGACCACATGGATGATATGGATGATGAAGATGATGATGACCATGTGGACAGCCAG       c.300
 S  H  D  H  M  D  D  M  D  D  E  D  D  D  D  H  V  D  S  Q         p.100

          .         .         .         .         .         .       g.10969
 GACTCCATTGACTCGAACGACTCTGATGATGTAGATGACACTGATGATTCTCACCAGTCT       c.360
 D  S  I  D  S  N  D  S  D  D  V  D  D  T  D  D  S  H  Q  S         p.120

          .         .         .         .         .         .       g.11029
 GATGAGTCTCACCATTCTGATGAATCTGATGAACTGGTCACTGATTTTCCCACGGACCTG       c.420
 D  E  S  H  H  S  D  E  S  D  E  L  V  T  D  F  P  T  D  L         p.140

          .         .         .         .         .         .       g.11089
 CCAGCAACCGAAGTTTTCACTCCAGTTGTCCCCACAGTAGACACATATGATGGCCGAGGT       c.480
 P  A  T  E  V  F  T  P  V  V  P  T  V  D  T  Y  D  G  R  G         p.160

          .         .         .         .         .         .       g.11149
 GATAGTGTGGTTTATGGACTGAGGTCAAAATCTAAGAAGTTTCGCAGACCTGACATCCAG       c.540
 D  S  V  V  Y  G  L  R  S  K  S  K  K  F  R  R  P  D  I  Q         p.180

  | 07       .         .         .         .         .         .    g.11902
  | TACCCTGATGCTACAGACGAGGACATCACCTCACACATGGAAAGCGAGGAGTTGAATGGT    c.600
  | Y  P  D  A  T  D  E  D  I  T  S  H  M  E  S  E  E  L  N  G      p.200

          .         .         .         .         .         .       g.11962
 GCATACAAGGCCATCCCCGTTGCCCAGGACCTGAACGCGCCTTCTGATTGGGACAGCCGT       c.660
 A  Y  K  A  I  P  V  A  Q  D  L  N  A  P  S  D  W  D  S  R         p.220

          .         .         .         .         .         .       g.12022
 GGGAAGGACAGTTATGAAACGAGTCAGCTGGATGACCAGAGTGCTGAAACCCACAGCCAC       c.720
 G  K  D  S  Y  E  T  S  Q  L  D  D  Q  S  A  E  T  H  S  H         p.240

          .         .         .         .         .         .       g.12082
 AAGCAGTCCAGATTATATAAGCGGAAAGCCAATGATGAGAGCAATGAGCATTCCGATGTG       c.780
 K  Q  S  R  L  Y  K  R  K  A  N  D  E  S  N  E  H  S  D  V         p.260

          .         .         .         .         .         .       g.12142
 ATTGATAGTCAGGAACTTTCCAAAGTCAGCCGTGAATTCCACAGCCATGAATTTCACAGC       c.840
 I  D  S  Q  E  L  S  K  V  S  R  E  F  H  S  H  E  F  H  S         p.280

          .         .         .         .         .         .       g.12202
 CATGAAGATATGCTGGTTGTAGACCCCAAAAGTAAGGAAGAAGATAAACACCTGAAATTT       c.900
 H  E  D  M  L  V  V  D  P  K  S  K  E  E  D  K  H  L  K  F         p.300

          .         .         .         .                           g.12247
 CGTATTTCTCATGAATTAGATAGTGCATCTTCTGAGGTCAATTAA                      c.945
 R  I  S  H  E  L  D  S  A  S  S  E  V  N  X                        p.314

          .         .         .         .         .         .       g.12307
 aaggagaaaaaatacaatttctcactttgcatttagtcaaaagaaaaaatgctttatagc       c.*60

          .         .         .         .         .         .       g.12367
 aaaatgaaagagaacatgaaatgcttctttctcagtttattggttgaatgtgtatctatt       c.*120

          .         .         .         .         .         .       g.12427
 tgagtctggaaataactaatgtgtttgataattagtttagtttgtggcttcatggaaact       c.*180

          .         .         .         .         .         .       g.12487
 ccctgtaaactaaaagcttcagggttatgtctatgttcattctatagaagaaatgcaaac       c.*240

          .         .         .         .         .         .       g.12547
 tatcactgtattttaatatttgttattctctcatgaatagaaatttatgtagaagcaaac       c.*300

          .         .         .         .         .         .       g.12607
 aaaatacttttacccacttaaaaagagaatataacattttatgtcactataatcttttgt       c.*360

          .         .         .         .         .         .       g.12667
 tttttaagttagtgtatattttgttgtgattatctttttgtggtgtgaataaatctttta       c.*420

          .         .         .         .         .         .       g.12727
 tcttgaatgtaataagaatttggtggtgtcaattgcttatttgttttcccacggttgtcc       c.*480

          .         .         .                                     g.12762
 agcaattaataaaacataaccttttttactgccta                                c.*515

 (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 Secreted phosphoprotein 1 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.