paternally expressed 10 (PEG10) - coding DNA reference sequence

(used for variant description)

(last modified November 21, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015068.3 in the PEG10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011340.1, covering PEG10 transcript NM_015068.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5059
  ctcctcggtgcaacctatataaggctcacagtctgcgctcctggtacacgcgcttcaac       c.-421

 .         .         .         .         .         .                g.5119
 ttcggttggtgtgtgtcgaagaaacctgactgcgccctgaggagaacagcggagaaggtc       c.-361

 .         .         .         .         .         .                g.5179
 caccgagcctggcgaaaggtccgctgagcgggctgtcgtccggagccactccgggctgcg       c.-301

 .         .         .         .         .         .                g.5239
 gagcacccagtggagaccgcgcctggctcaggtgtgggaccccatccttcctgtcttcgc       c.-241

 .         .       | 02 .         .         .         .             g.12052
 agaggagtcctcgcgtg | aaataagcgggttttgaaaacaaaaaaaagaaggagtggaaga    c.-181

 .         .         .         .         .         .                g.12112
 gggggccaggatccaggcctccatccccacagaagtgaagctacagctgggaggtctcct       c.-121

 .         .         .         .         .         .                g.12172
 cccaccccaaccgtcaccctgggtcccgactgcccacctcctcctcctccccctcccccc       c.-61

 .         .         .         .         .         .                g.12232
 aacaacaacaacaacaacaactccaagcacaccggccataagagtgcgtgtgtccccaac       c.-1

          .         .         .         .         .         .       g.12292
 ATGACCGAACGAAGAAGGGACGAGCTCTCTGAAGAGATCAACAACTTAAGAGAGAAGGTC       c.60
 M  T  E  R  R  R  D  E  L  S  E  E  I  N  N  L  R  E  K  V         p.20

          .         .         .         .         .         .       g.12352
 ATGAAGCAGTCGGAGGAGAACAACAACCTGCAGAGCCAGGTGCAGAAGCTCACAGAGGAG       c.120
 M  K  Q  S  E  E  N  N  N  L  Q  S  Q  V  Q  K  L  T  E  E         p.40

          .         .         .         .         .         .       g.12412
 AACACCACCCTTCGAGAGCAAGTGGAACCCACCCCTGAGGATGAGGATGATGACATCGAG       c.180
 N  T  T  L  R  E  Q  V  E  P  T  P  E  D  E  D  D  D  I  E         p.60

          .         .         .         .         .         .       g.12472
 CTCCGCGGTGCTGCAGCAGCTGCTGCCCCACCCCCTCCAATAGAGGAAGAGTGCCCAGAA       c.240
 L  R  G  A  A  A  A  A  A  P  P  P  P  I  E  E  E  C  P  E         p.80

          .         .         .         .         .         .       g.12532
 GACCTCCCAGAGAAGTTCGATGGCAACCCAGACATGCTGGCTCCTTTCATGGCCCAGTGC       c.300
 D  L  P  E  K  F  D  G  N  P  D  M  L  A  P  F  M  A  Q  C         p.100

          .         .         .         .         .         .       g.12592
 CAGATCTTCATGGAAAAGAGCACCAGGGATTTCTCAGTTGATCGTGTCCGTGTCTGCTTC       c.360
 Q  I  F  M  E  K  S  T  R  D  F  S  V  D  R  V  R  V  C  F         p.120

          .         .         .         .         .         .       g.12652
 GTGACAAGCATGATGACCGGCCGTGCTGCCCGTTGGGCCTCAGCAAAGCTGGAGCGCTCC       c.420
 V  T  S  M  M  T  G  R  A  A  R  W  A  S  A  K  L  E  R  S         p.140

          .         .         .         .         .         .       g.12712
 CACTACCTGATGCACAACTACCCAGCTTTCATGATGGAAATGAAGCATGTCTTTGAAGAC       c.480
 H  Y  L  M  H  N  Y  P  A  F  M  M  E  M  K  H  V  F  E  D         p.160

          .         .         .         .         .         .       g.12772
 CCTCAGAGGCGAGAGGTTGCCAAACGCAAGATCAGACGCCTGCGCCAAGGCATGGGGTCT       c.540
 P  Q  R  R  E  V  A  K  R  K  I  R  R  L  R  Q  G  M  G  S         p.180

          .         .         .         .         .         .       g.12832
 GTCATCGACTACTCCAATGCTTTCCAGATGATTGCCCAGGACCTGGATTGGAACGAGCCT       c.600
 V  I  D  Y  S  N  A  F  Q  M  I  A  Q  D  L  D  W  N  E  P         p.200

          .         .         .         .         .         .       g.12892
 GCGCTGATTGACCAGTACCACGAGGGCCTCAGCGACCACATTCAGGAGGAGCTCTCCCAC       c.660
 A  L  I  D  Q  Y  H  E  G  L  S  D  H  I  Q  E  E  L  S  H         p.220

          .         .         .         .         .         .       g.12952
 CTCGAGGTCGCCAAGTCGCTGTCTGCTCTGATTGGGCAGTGCATTCACATTGAGAGAAGG       c.720
 L  E  V  A  K  S  L  S  A  L  I  G  Q  C  I  H  I  E  R  R         p.240

          .         .         .         .         .         .       g.13012
 CTGGCCAGGGCTGCTGCAGCTCGCAAGCCACGCTCGCCACCCCGGGCGCTGGTGTTGCCT       c.780
 L  A  R  A  A  A  A  R  K  P  R  S  P  P  R  A  L  V  L  P         p.260

          .         .         .         .         .         .       g.13072
 CACATTGCAAGCCACCACCAGGTAGATCCAACCGAGCCGGTGGGAGGTGCCCGCATGCGC       c.840
 H  I  A  S  H  H  Q  V  D  P  T  E  P  V  G  G  A  R  M  R         p.280

          .         .         .         .         .         .       g.13132
 CTGACGCAGGAAGAAAAAGAAAGACGCAGAAAGCTGAACCTGTGCCTCTACTGTGGAACA       c.900
 L  T  Q  E  E  K  E  R  R  R  K  L  N  L  C  L  Y  C  G  T         p.300

          .         .         .         .         .         .       g.13192
 GGAGGTCACTACGCTGACAATTGTCCTGCCAAGGCCTCAAAGTCTTCGCCGGCGGGAAAC       c.960
 G  G  H  Y  A  D  N  C  P  A  K  A  S  K  S  S  P  A  G  N         p.320

          .                                                         g.13210
 TCCCCGGCCCCGCTGTAG                                                 c.978
 S  P  A  P  L  X                                                   p.325

          .         .         .         .         .         .       g.13270
 agggaccttcagcgaccgggccagaaataataaggtccccacaagatgatgcctcatctc       c.*60

          .         .         .         .         .         .       g.13330
 cacacttgcaagtgatgctccagattcatcttccgggcagacacaccctgttcgtccgag       c.*120

          .         .         .         .         .         .       g.13390
 ccatgatcgattctggtgcttctggcaacttcattgatcacgaatatgttgctcaaaatg       c.*180

          .         .         .         .         .         .       g.13450
 gaattcctctaagaatcaaggactggccaatacttgtggaagcaattgatgggcgcccca       c.*240

          .         .         .         .         .         .       g.13510
 tagcatcgggcccagttgtccacgaaactcacgacctgatagttgacctgggagatcacc       c.*300

          .         .         .         .         .         .       g.13570
 gagaggtgctgtcatttgatgtgactcagtctccattcttccctgtcgtcctaggggttc       c.*360

          .         .         .         .         .         .       g.13630
 gctggctgagcacacatgatcccaatatcacatggagcactcgatctatcgtctttgatt       c.*420

          .         .         .         .         .         .       g.13690
 ctgaatactgccgctaccactgccggatgtattctccaataccaccatcgctcccaccac       c.*480

          .         .         .         .         .         .       g.13750
 cagcaccacaaccgccactctattatccagtagatggatacagagtttaccaaccagtga       c.*540

          .         .         .         .         .         .       g.13810
 ggtattactatgtccagaatgtgtacactccagtagatgagcacgtctacccagatcacc       c.*600

          .         .         .         .         .         .       g.13870
 gcctggttgaccctcacatagaaatgatacctggagcacacagtattcccagtggacatg       c.*660

          .         .         .         .         .         .       g.13930
 tgtattcactgtccgaacctgaaatggcagctcttcgagattttgtggcaagaaatgtaa       c.*720

          .         .         .         .         .         .       g.13990
 aagatgggctaattactccaacgattgcacctaatggagcccaagttctccaggtgaaga       c.*780

          .         .         .         .         .         .       g.14050
 gggggtggaaactgcaagtttcttatgattgccgagctccaaacaattttactatccaga       c.*840

          .         .         .         .         .         .       g.14110
 atcagtatcctcgcctatctattccaaatttagaagaccaagcacacctggcaacgtaca       c.*900

          .         .         .         .         .         .       g.14170
 ctgaattcgtacctcaaatacctggataccaaacataccccacatatgccgcgtacccga       c.*960

          .         .         .         .         .         .       g.14230
 cctacccagtaggattcgcctggtacccagtgggacgagacggacaaggaagatcactat       c.*1020

          .         .         .         .         .         .       g.14290
 atgtacctgtgatgatcacttggaatccacactggtaccgccagcctccggtaccacagt       c.*1080

          .         .         .         .         .         .       g.14350
 acccgccgccacagccgccgcctccaccaccaccaccgccgccgcctccatcttacagta       c.*1140

          .         .         .         .         .         .       g.14410
 ccctgtaaatacctgtcatgtccttcaggatctctgccctcaaaatttattcctgttcag       c.*1200

          .         .         .         .         .         .       g.14470
 cttctcaatcagtgactgtgtgctaaattttaggctactgtatcttcaggccacctgagg       c.*1260

          .         .         .         .         .         .       g.14530
 cacatcctctctgaaacggctatggaaggttagggccactctggactggcacacatccta       c.*1320

          .         .         .         .         .         .       g.14590
 aagcaccaaaagaccttcaacattttctgagagcaacagagtatttgccaataaatgatc       c.*1380

          .         .         .         .         .         .       g.14650
 tctcatttttccaccttgactgccaatctaactaaaataattaataagtttactttccag       c.*1440

          .         .         .         .         .         .       g.14710
 ccagtcctggaagtctgggttttacctgccaaaacctccatcaccatctaaattataggc       c.*1500

          .         .         .         .         .         .       g.14770
 tgccaaatttgctgtttaacatttacagagaagctgatacaaacgcaggaaatgctgatt       c.*1560

          .         .         .         .         .         .       g.14830
 tctttatggagggggagacgaggaggaggaggacatgacttttcttgcggtttcggtacc       c.*1620

          .         .         .         .         .         .       g.14890
 ctctttttaaatcactggaggactgaggccttattaaggaagccaaaattatcggtgcag       c.*1680

          .         .         .         .         .         .       g.14950
 tgtggaaaggcttccgtgatcctctcgctgcacccttagaaacttcaccgtcttcaaact       c.*1740

          .         .         .         .         .         .       g.15010
 ccatttccatggttctgttaattctcaaggagcagcaactcgactggttctcccaggagc       c.*1800

          .         .         .         .         .         .       g.15070
 aggaaaaacccttgtgacatgaaacatctcaggcctgaaaagaaagtgctctctcagatg       c.*1860

          .         .         .         .         .         .       g.15130
 gactcttgcatgttaagactatgtcttcacatcatggtgcaaatcacatgtacccaatga       c.*1920

          .         .         .         .         .         .       g.15190
 ctccggctttgacacaacaccttaccatcatcatgccatgatggcttccacaaagcatta       c.*1980

          .         .         .         .         .         .       g.15250
 aacctggtaaccagagattactggtggctccagcgttgttagatgttcatgaaatgtgac       c.*2040

          .         .         .         .         .         .       g.15310
 cacctctcaatcacctttgagggctaaagagtagcacatcaaaaggactccaaaatccca       c.*2100

          .         .         .         .         .         .       g.15370
 tacccaactcttaagagatttgtcctggtacttcagaaagaattttcatgagtgttctta       c.*2160

          .         .         .         .         .         .       g.15430
 attggctggaaaagcaccagctgacgttttggaagaatctatccatgtgtctgcctccat       c.*2220

          .         .         .         .         .         .       g.15490
 atgcatctgggcatttcatcttcagtcccctcattagactgtagcattaggatgtgtgga       c.*2280

          .         .         .         .         .         .       g.15550
 gagaggagaaatgatttagcacccagattcacactcctatgcctggaagggggacatctt       c.*2340

          .         .         .         .         .         .       g.15610
 tgaagaagaggaattagggctgtggacactgtcttgaggatgtggacttccttagtgagc       c.*2400

          .         .         .         .         .         .       g.15670
 tccacattacttgatggtaaccacttcaaaaggatcagaatccacgtaatgaaaaaggtc       c.*2460

          .         .         .         .         .         .       g.15730
 cctctagaggatggagctgatgtgaagctgccaatggatgaaaagcctcagaaagcaact       c.*2520

          .         .         .         .         .         .       g.15790
 caaaggactcaaagcaacggacaacacaagagttgtcttcagcccagtgacacctctgat       c.*2580

          .         .         .         .         .         .       g.15850
 gtcccctggaagctttgtgctaacctgggactgcctgacttcctttagcctggtcccttg       c.*2640

          .         .         .         .         .         .       g.15910
 ctactaccttgaactgttttatctaacctctctttttctgtttaattctttgctactgcc       c.*2700

          .         .         .         .         .         .       g.15970
 attgaccctgctgcaggatttgtgtcattttcctgcctggttgctgagactccattttgc       c.*2760

          .         .         .         .         .         .       g.16030
 tgccacacacagagatgtaagaggcaggctttaattgccaaagcacagtttgagcagtag       c.*2820

          .         .         .         .         .         .       g.16090
 aaaacaacatggtgtatatctcaaattgcctgacatgaagaggagtctaacggtgaagtt       c.*2880

          .         .         .         .         .         .       g.16150
 tcacttttcatcagcatcatctttcacatgttcattatcatctgctcttattcttgcatg       c.*2940

          .         .         .         .         .         .       g.16210
 tttaaacacttaaaatttttagtataatttttagtgtgttttgaagtggtgactaggctt       c.*3000

          .         .         .         .         .         .       g.16270
 tcaaaaacttccattgaattacaaagcactatccagttcttattgttaaactaagtaaaa       c.*3060

          .         .         .         .         .         .       g.16330
 atgataagtaacatagtgtaaaatattcctttactgtgaacttcttacaatgctgtgaat       c.*3120

          .         .         .         .         .         .       g.16390
 gagaggctcctcagaactggagcatttgtataataattcatcctgttcatcttcaatttt       c.*3180

          .         .         .         .         .         .       g.16450
 aacatcatatataatttcaattctatcaattgggcctttaaaaatcatataaaaggatat       c.*3240

          .         .         .         .         .         .       g.16510
 aaaatttgaaaagagaaacctaattggctatttaatccaaaacaactttttttttccttc       c.*3300

          .         .         .         .         .         .       g.16570
 aatggaatcagaaagcttgtcaatcactcatgtgttttagagtaattacttttaaaatgg       c.*3360

          .         .         .         .         .         .       g.16630
 tgcatttgtgcttctgaactattttgaagagtcacttctgtttacctcaagtatcaattc       c.*3420

          .         .         .         .         .         .       g.16690
 atcctccatacatttgaattcaagttgtttttttgtcaaatttacagttgtcaattgatc       c.*3480

          .         .         .         .         .         .       g.16750
 ttcaagctgcagggtgcctagaaatgggccgttgtctgtagccctggcatgtgcacacgg       c.*3540

          .         .         .         .         .         .       g.16810
 acatttgccaccactgcaagcaaaagtctggagaagttcaccaacgacaagaacgattag       c.*3600

          .         .         .         .         .         .       g.16870
 ggaaaatatgctgctgtgggttaacaactcagaaagtccctgatccacatttggctgttt       c.*3660

          .         .         .         .         .         .       g.16930
 actaaagcttgtgattaactttttggcagtgtgtactatgctctattgctatatatgcta       c.*3720

          .         .         .         .         .         .       g.16990
 tctataaatgtagatgttaaggataagtaattctaaatttattattctatagttttgaag       c.*3780

          .         .         .         .         .         .       g.17050
 tttggttaagtttcctttcactcaattgatttattttgttgttaatcaaatttatgttaa       c.*3840

          .         .         .         .         .         .       g.17110
 ttggatcctttaaattttttttggcattttccaacaaaaatggctttattcataagaaag       c.*3900

          .         .         .         .         .         .       g.17170
 gaaaaaaatcaatggaatttgatatctaaagaagttagaaagggagcaaaataaaaaaca       c.*3960

          .         .         .         .         .         .       g.17230
 taaaggagatagatgaattagtaagcaaatcagtagtcgagtttttcaaactggcaaaat       c.*4020

          .         .         .         .         .         .       g.17290
 taattaattgacttttagcccaaatttacattgttaattaaatcaagaaggaagaagatc       c.*4080

          .         .         .         .         .         .       g.17350
 taagagctcccattgataggcaagcctagagagaactagctaaatttatcatgctaggat       c.*4140

          .         .         .         .         .         .       g.17410
 attgaaacacagaaagtttacatacatttatgaagggtcaatttagtttggacagtgagg       c.*4200

          .         .         .         .         .         .       g.17470
 tatttgtcttagtggaaaaaaggagaattagtctgatcaaatcgtgaagtaatacagtga       c.*4260

          .         .         .         .         .         .       g.17530
 acttgcaggtgcacaaaataagagggccacatctatatggtgcagtctggaattctgttt       c.*4320

          .         .         .         .         .         .       g.17590
 aagtttgtaggtacctcttggacttctgaattgatccagttgtcatccaccacagacatc       c.*4380

          .         .         .         .         .         .       g.17650
 tcacatcagatacagacagttccaagattgacaacagagaacaacctgctggaaagacct       c.*4440

          .         .         .         .         .         .       g.17710
 gggcagaaatggagagccctgcgggaaccatgctacattttcatctaaagagagaatgca       c.*4500

          .         .         .         .         .         .       g.17770
 catctgatgagactgaaagttctttgttgttttagattgtagaatggtattgaattggtc       c.*4560

          .         .         .         .         .         .       g.17830
 tgtggaaaattgcattgcttttatttctttgtgtaatcaagtttaagtaataggggatat       c.*4620

          .         .         .         .         .         .       g.17890
 ataatcataagcattttagggtgggagggactattaagtaattttaagtgggtggggtta       c.*4680

          .         .         .         .         .         .       g.17950
 tttagaatgttagaataatattatgtattagatatcgctataagtggacatgcgtactta       c.*4740

          .         .         .         .         .         .       g.18010
 cttgtaaccctttaccctataattgctatccttaaagatttcaaataaactcggagggaa       c.*4800

          .         .         .         .         .         .       g.18070
 ctgcagggagaccaacttatttagagcgaattggacatggataaaaaccccagtgggaga       c.*4860

          .         .         .         .         .         .       g.18130
 aagttcaaaggtgattagattaataatttaatagaggatgagtgacctctgataaattac       c.*4920

          .         .         .         .         .         .       g.18190
 tgctagaatgaacttgtcaatgatggatggtaaattttcatggaagttataaaagtgata       c.*4980

          .         .         .         .         .         .       g.18250
 aataaaaacccttgcttttacccctgtcagtagccctcctcctaccactgaaccccattg       c.*5040

          .         .         .         .         .         .       g.18310
 cccctacccctccttctaactttattgctgtattctcttcactctatatttctctctatt       c.*5100

          .         .         .         .         .         .       g.18370
 tgctaatattgcattgctgttacaataaaaattcaataaagatttagtggttaagtgcaa       c.*5160

                                                                    g.18371
 a                                                                  c.*5161

 (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 Paternally expressed 10 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.