carboxypeptidase N, polypeptide 1 (CPN1) - coding DNA reference sequence

(used for variant description)

(last modified November 30, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_001308.2 in the CPN1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012060.1, covering CPN1 transcript NM_001308.2.

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

 (upstream sequence)
                                         .         .                g.5020
                                         tggggaagtgcaaaaaacct       c.-241

 .         .         .         .         .         .                g.5080
 ttcaaaaggctttcctggattagagaaagaaagggagtgagggaggagagatgagtggct       c.-181

 .         .         .         .         .         .                g.5140
 attccagaacgacataaagaatttccagccttggacggacagctgggaacgtcttccaat       c.-121

 .         .         .         .         .         .                g.5200
 ttggactggtgtttacaagcgggaagctaggtggaccttggattttggcgggtgaagagg       c.-61

 .         .         .         .         .         .                g.5260
 ctaggttgtttaaggaggtggggcgcgtttcagtggctctctttgaaaaagcccagcaag       c.-1

          .         .         .         .         .         .       g.5320
 ATGTCAGACCTGCTCTCAGTCTTCCTCCACCTCCTCCTTCTCTTCAAGTTGGTTGCCCCG       c.60
 M  S  D  L  L  S  V  F  L  H  L  L  L  L  F  K  L  V  A  P         p.20

          .         .         .         .         .         .       g.5380
 GTGACCTTTCGCCACCACCGCTATGATGATCTTGTGCGGACGCTGTACAAGGTGCAAAAC       c.120
 V  T  F  R  H  H  R  Y  D  D  L  V  R  T  L  Y  K  V  Q  N         p.40

          .         .         .         .         .         .       g.5440
 GAATGCCCCGGCATCACGCGGGTCTACAGCATTGGGCGCAGCGTGGAGGGGAGACACCTC       c.180
 E  C  P  G  I  T  R  V  Y  S  I  G  R  S  V  E  G  R  H  L         p.60

          .         .         .         .    | 02    .         .    g.10795
 TACGTGCTGGAGTTCAGCGACCACCCTGGAATCCACGAGCCCT | TGGAACCAGAGGTCAAG    c.240
 Y  V  L  E  F  S  D  H  P  G  I  H  E  P  L |   E  P  E  V  K      p.80

          .         .         .         .         .         .       g.10855
 TATGTGGGGAACATGCACGGCAACGAAGCGTTGGGCCGCGAGCTGATGCTGCAGCTGTCG       c.300
 Y  V  G  N  M  H  G  N  E  A  L  G  R  E  L  M  L  Q  L  S         p.100

          .         .         .         .         .         .       g.10915
 GAGTTTCTGTGCGAGGAGTTCCGGAACAGGAACCAGCGCATCGTCCAGCTCATCCAGGAC       c.360
 E  F  L  C  E  E  F  R  N  R  N  Q  R  I  V  Q  L  I  Q  D         p.120

          .         .         .         .         .         .       g.10975
 ACGCGCATTCACATCCTGCCATCCATGAACCCCGACGGCTACGAGGTGGCTGCTGCCCAG       c.420
 T  R  I  H  I  L  P  S  M  N  P  D  G  Y  E  V  A  A  A  Q         p.140

  | 03       .         .         .         .         .         .    g.17076
  | GGCCCAAACAAGCCTGGGTATCTAGTTGGCAGGAACAATGCAAATGGAGTGGACCTGAAC    c.480
  | G  P  N  K  P  G  Y  L  V  G  R  N  N  A  N  G  V  D  L  N      p.160

          .         .         .         .         .         .       g.17136
 CGCAACTTCCCTGATCTCAATACCTATATCTACTATAACGAGAAGTACGGAGGCCCCAAC       c.540
 R  N  F  P  D  L  N  T  Y  I  Y  Y  N  E  K  Y  G  G  P  N         p.180

          .         .         .       | 04 .         .         .    g.21539
 CACCACCTGCCCCTTCCAGACAACTGGAAAAGTCAG | GTGGAACCCGAGACCCGGGCGGTG    c.600
 H  H  L  P  L  P  D  N  W  K  S  Q   | V  E  P  E  T  R  A  V      p.200

          .         .         .         .         .         .       g.21599
 ATCCGGTGGATGCACTCCTTCAACTTTGTTCTTTCAGCCAATCTCCACGGAGGGGCGGTG       c.660
 I  R  W  M  H  S  F  N  F  V  L  S  A  N  L  H  G  G  A  V         p.220

          .         .         .         .         .         .       g.21659
 GTGGCCAATTACCCGTATGACAAGTCCTTTGAGCACCGGGTCCGAGGGGTCCGCCGCACC       c.720
 V  A  N  Y  P  Y  D  K  S  F  E  H  R  V  R  G  V  R  R  T         p.240

          .         .         .          | 05        .         .    g.23181
 GCCAGCACCCCCACGCCTGACGACAAGCTCTTCCAGAAG | CTGGCCAAGGTCTACTCCTAT    c.780
 A  S  T  P  T  P  D  D  K  L  F  Q  K   | L  A  K  V  Y  S  Y      p.260

          .         .         .         .         .         .       g.23241
 GCACATGGATGGATGTTCCAAGGTTGGAACTGCGGAGATTACTTCCCAGATGGCATCACC       c.840
 A  H  G  W  M  F  Q  G  W  N  C  G  D  Y  F  P  D  G  I  T         p.280

          .         .         .  | 06      .         .         .    g.29762
 AATGGGGCTTCCTGGTATTCTCTCAGCAAGG | GAATGCAAGACTTTAATTATCTCCATACC    c.900
 N  G  A  S  W  Y  S  L  S  K  G |   M  Q  D  F  N  Y  L  H  T      p.300

          .         .         .         .         .         .       g.29822
 AACTGCTTTGAGATCACGCTGGAACTGAGTTGCGACAAGTTTCCCCCCGAAGAGGAGTTA       c.960
 N  C  F  E  I  T  L  E  L  S  C  D  K  F  P  P  E  E  E  L         p.320

          .         .         .         .         .  | 07      .    g.32448
 CAGCGGGAGTGGCTGGGTAATCGGGAAGCCCTAATCCAGTTCCTGGAACAG | GTTCACCAG    c.1020
 Q  R  E  W  L  G  N  R  E  A  L  I  Q  F  L  E  Q   | V  H  Q      p.340

          .         .         .         .         .         .       g.32508
 GGCATCAAGGGAATGGTGCTTGATGAGAATTACAATAATCTCGCCAATGCTGTCATTTCT       c.1080
 G  I  K  G  M  V  L  D  E  N  Y  N  N  L  A  N  A  V  I  S         p.360

          .         .         .  | 08      .         .         .    g.38038
 GTCAGTGGGATTAACCATGATGTCACTTCAG | GTGACCATGGTGATTACTTCCGGCTGCTG    c.1140
 V  S  G  I  N  H  D  V  T  S  G |   D  H  G  D  Y  F  R  L  L      p.380

          .         .         .         .         .         .       g.38098
 CTTCCAGGTATCTACACTGTTAGTGCCACAGCACCTGGGTATGACCCAGAGACAGTAACT       c.1200
 L  P  G  I  Y  T  V  S  A  T  A  P  G  Y  D  P  E  T  V  T         p.400

          .         .         . | 09       .         .         .    g.44342
 GTGACCGTGGGTCCTGCGGAACCAACGTTG | GTTAACTTCCACCTCAAAAGAAGCATCCCT    c.1260
 V  T  V  G  P  A  E  P  T  L   | V  N  F  H  L  K  R  S  I  P      p.420

          .         .         .         .         .         .       g.44402
 CAAGTAAGCCCTGTGAGGAGAGCTCCCAGCAGAAGGCACGGAGTCAGAGCCAAAGTGCAG       c.1320
 Q  V  S  P  V  R  R  A  P  S  R  R  H  G  V  R  A  K  V  Q         p.440

          .         .         .         .         .                 g.44459
 CCCCAAGCCAGAAAGAAAGAAATGGAGATGAGGCAGCTGCAGAGAGGCCCTGCCTGA          c.1377
 P  Q  A  R  K  K  E  M  E  M  R  Q  L  Q  R  G  P  A  X            p.458

          .         .         .         .         .         .       g.44519
 aacccacagtgccaggcaacccttcagaaaggctttgctcctgctctcagatcagatcaa       c.*60

          .         .         .         .         .                 g.44578
 gcattctttctattttattatctgggacatatttaaatacaaacatattcagaacaatt        c.*119

 (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 Carboxypeptidase N, polypeptide 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.