regulating synaptic membrane exocytosis 1 (RIMS1) - coding DNA reference sequence

(used for variant description)

(last modified February 28, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_014989.5 in the RIMS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016209.1, covering RIMS1 transcript NM_014989.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.4777
                                        ctctcccgccgcgcctccgcc       c.-301

 .         .         .         .         .         .                g.4837
 tgcccgcccccgccggccgaggctgggctgcgggaggcggccgggcggccccgagcttcg       c.-241

 .         .         .         .         .         .                g.4897
 ctagggcgaccaaaacaaaggcagcatccggggctgggtggatgcaaacaaccatgaaag       c.-181

 .         .         .         .         .         .                g.4957
 actgggttctcgctctccccggctctgctgctgctgctgctgccgccgccgccgctgctc       c.-121

 .         .         .         .         .         .                g.5017
 ctcctcctgccgccgccgctagggctccgctgtgagggggaagcaggggcgcagctgctg       c.-61

 .         .         .         .         .         .                g.5077
 ggcgtgcatccgaaaggtgagagccagagagcgagcagagggggcgggcaggccacgaaa       c.-1

          .         .         .         .         .         .       g.5137
 ATGTCCTCGGCCGTGGGGCCCCGCGGTCCTCGCCCACCCACGGTGCCTCCCCCCATGCAA       c.60
 M  S  S  A  V  G  P  R  G  P  R  P  P  T  V  P  P  P  M  Q         p.20

          .         .         .         .         .         .       g.5197
 GAGCTGCCCGACCTGAGCCACCTGACCGAAGAGGAGAGGAACATTATCATGGCAGTGATG       c.120
 E  L  P  D  L  S  H  L  T  E  E  E  R  N  I  I  M  A  V  M         p.40

          .         .         .         .     | 02   .         .    g.87052
 GACCGGCAGAAGGAAGAGGAGGAAAAAGAAGAAGCCATGCTCAA | GTGTGTTGTCAGGGAC    c.180
 D  R  Q  K  E  E  E  E  K  E  E  A  M  L  K  |  C  V  V  R  D      p.60

          .         .         .         .         .         .       g.87112
 ATGGCGAAGCCTGCTGCCTGCAAAACACCAAGAAATGCTGAAAACCAGCCCCACCAACCT       c.240
 M  A  K  P  A  A  C  K  T  P  R  N  A  E  N  Q  P  H  Q  P         p.80

       | 03  .         .         .         .         .         .    g.215057
 TCACC | GAGATTGCATCAACAGTTTGAAAGCTATAAGGAACAAGTGAGAAAAATAGGGGAA    c.300
 S  P  |  R  L  H  Q  Q  F  E  S  Y  K  E  Q  V  R  K  I  G  E      p.100

          .         .         .         .         .         .       g.215117
 GAAGCGCGGCGTTACCAGGGCGAGCACAAAGACGATGCTCCGACTTGTGGAATCTGTCAT       c.360
 E  A  R  R  Y  Q  G  E  H  K  D  D  A  P  T  C  G  I  C  H         p.120

          .         .         .         .         .         .       g.215177
 AAAACAAAGTTTGCTGATGGGTGCGGTCATCTCTGCTCCTATTGTCGCACTAAGTTCTGT       c.420
 K  T  K  F  A  D  G  C  G  H  L  C  S  Y  C  R  T  K  F  C         p.140

          .         .         .          | 04        .  | 05      . g.297637
 GCGCGCTGCGGAGGCCGCGTGTCTCTACGGTCAAACAAC | GAGGACAAAGTG | GTTATGTGG c.480
 A  R  C  G  G  R  V  S  L  R  S  N  N   | E  D  K  V   | V  M  W   p.160

          .         .         .         .         .         .       g.297697
 GTATGCAATTTATGTCGAAAGCAACAAGAAATCTTAACCAAATCTGGGGCATGGTTCTTT       c.540
 V  C  N  L  C  R  K  Q  Q  E  I  L  T  K  S  G  A  W  F  F         p.180

          .         .         .         .         .         .       g.297757
 GGAAGTGGCCCTCAGCAGACAAGTCAGGATGGAACCCTGAGTGATACAGCTACAGGTGCT       c.600
 G  S  G  P  Q  Q  T  S  Q  D  G  T  L  S  D  T  A  T  G  A         p.200

          .         .         .         .         .         .       g.297817
 GGCTCTGAGGTACCAAGAGAAAAGAAAGCACGACTCCAAGAGCGATCGCGGTCTCAGACA       c.660
 G  S  E  V  P  R  E  K  K  A  R  L  Q  E  R  S  R  S  Q  T         p.220

          .         .         .         .         .         .       g.297877
 CCCCTAAGCACAGCAGCTGCCTCCTCCCAGGATGCTGCTCCTCCCAGCGCACCACCAGAC       c.720
 P  L  S  T  A  A  A  S  S  Q  D  A  A  P  P  S  A  P  P  D         p.240

          .         .         .         .         .         .       g.297937
 AGGAGCAAAGGGGCTGAGCCCTCGCAGCAAGCCTTGGGGCCTGAACAGAAGCAGGCTTCA       c.780
 R  S  K  G  A  E  P  S  Q  Q  A  L  G  P  E  Q  K  Q  A  S         p.260

          .         .         .   | 06     .         .         .    g.300365
 TCCAGGTCTAGAAGTGAACCTCCTAGAGAGAG | AAAGAAGACCCCAGGGCTTTCCGAGCAG    c.840
 S  R  S  R  S  E  P  P  R  E  R  |  K  K  T  P  G  L  S  E  Q      p.280

          .         .         .         .         .         .       g.300425
 AATGGCAAAGGAGCCCTGAAGAGCGAGCGGAAACGCGTGCCAAAGACCTCAGCGCAGCCC       c.900
 N  G  K  G  A  L  K  S  E  R  K  R  V  P  K  T  S  A  Q  P         p.300

          .         .         .         .         .         .       g.300485
 GTGGAGGGGGCCGTCGAAGAACGGGAGCGCAAAGAAAGGCGGGAAAGCCGAAGGCTTGAG       c.960
 V  E  G  A  V  E  E  R  E  R  K  E  R  R  E  S  R  R  L  E         p.320

          .         .         .         .         .         .       g.300545
 AAAGGGCGATCACAGGATTACCCAGACACGCCGGAAAAACGGGATGAGGGCAAAGCGGCG       c.1020
 K  G  R  S  Q  D  Y  P  D  T  P  E  K  R  D  E  G  K  A  A         p.340

          .         .         .         .         .         .       g.300605
 GATGAGGAAAAGCAAAGAAAAGAGGAGGATTATCAGACCAGGTACCGCAGCGACCCGAAC       c.1080
 D  E  E  K  Q  R  K  E  E  D  Y  Q  T  R  Y  R  S  D  P  N         p.360

          .         .         .         .         .         .       g.300665
 CTAGCTCGGTACCCGGTGAAACCGCCGCCTGAGGAGCAGCAGATGCGCATGCACGCCCGG       c.1140
 L  A  R  Y  P  V  K  P  P  P  E  E  Q  Q  M  R  M  H  A  R         p.380

          .         .         .         .         .         .       g.300725
 GTGTCCCGCGCCAGGCACGAGCGGCGCCACAGCGACGTGGCGCTCCCGCGCACCGAGGCG       c.1200
 V  S  R  A  R  H  E  R  R  H  S  D  V  A  L  P  R  T  E  A         p.400

          .         .         .         .         .         .       g.300785
 GGCGCGGCGCTGCCGGAGGGCAAGGCCGGCAAACGCGCGCCGGCGGCAGCCAGGGCCTCG       c.1260
 G  A  A  L  P  E  G  K  A  G  K  R  A  P  A  A  A  R  A  S         p.420

          .         .         .         .         .         .       g.300845
 CCGCCGGACTCGCCGCGGGCTTACTCGGCTGAGAGAACTGCGGAGACCAGGGCGCCGGGC       c.1320
 P  P  D  S  P  R  A  Y  S  A  E  R  T  A  E  T  R  A  P  G         p.440

          .         .         .         .         .         .       g.300905
 GCCAAGCAGCTAACGAACCACAGCCCGCCGGCGCCCAGACATGGGCCGGTTCCCGCAGAA       c.1380
 A  K  Q  L  T  N  H  S  P  P  A  P  R  H  G  P  V  P  A  E         p.460

          .         .         .         .         .         .       g.300965
 GCCCCGGAGCTCAAAGCCCAGGAGCCCCTCAGGAAGCAGAGCCGCCTGGACCCCAGCTCG       c.1440
 A  P  E  L  K  A  Q  E  P  L  R  K  Q  S  R  L  D  P  S  S         p.480

          .         .         .         .         .         .       g.301025
 GCGGTCCTCATGCGGAAGGCCAAGCGCGAGAAGGTGGAGACCATGCTGCGGAACGACTCT       c.1500
 A  V  L  M  R  K  A  K  R  E  K  V  E  T  M  L  R  N  D  S         p.500

          .         .         .         .         .         .       g.301085
 TTGAGCTCAGACCAGTCCGAGTCGGTGCGGCCGTCCCCGCCCAAGCCGCACCGGTCCAAG       c.1560
 L  S  S  D  Q  S  E  S  V  R  P  S  P  P  K  P  H  R  S  K         p.520

          .         .         .         .         .         .       g.301145
 AGAGGCGGCAAGAAGCGGCAGATGTCGGTGAGCAGCTCTGAGGAGGAGGGCGTGTCGACG       c.1620
 R  G  G  K  K  R  Q  M  S  V  S  S  S  E  E  E  G  V  S  T         p.540

          .         .         .         .         .         | 07    g.351828
 CCCGAGTACACCAGCTGCGAGGACGTGGAGCTGGAGAGCGAGAGCGTCAGCGAGAAAG | GT    c.1680
 P  E  Y  T  S  C  E  D  V  E  L  E  S  E  S  V  S  E  K  G |       p.560

          .         .         .         .         .         .       g.351888
 GATTTGGATTATTACTGGTTGGATCCTGCCACGTGGCACAGCCGGGAGACATCACCTATT       c.1740
 D  L  D  Y  Y  W  L  D  P  A  T  W  H  S  R  E  T  S  P  I         p.580

        | 08 .         .         .         .         .         .    g.353725
 AGTTCG | CATCCTGTAACGTGGCAACCATCTAAAGAGGGGGACCGATTAATTGGACGTGTT    c.1800
 S  S   | H  P  V  T  W  Q  P  S  K  E  G  D  R  L  I  G  R  V      p.600

          .         .         .         .         .        | 09.    g.355879
 ATTCTTAACAAGAGAACAACCATGCCCAAAGACTCAGGTGCATTGCTGGGTCTGAAA | GTT    c.1860
 I  L  N  K  R  T  T  M  P  K  D  S  G  A  L  L  G  L  K   | V      p.620

          .         .         .         .         .         .       g.355939
 GTTGGAGGAAAAATGACTGACTTAGGACGACTTGGTGCTTTCATCACCAAAGTAAAGAAG       c.1920
 V  G  G  K  M  T  D  L  G  R  L  G  A  F  I  T  K  V  K  K         p.640

          .         .         .        | 10.         .         .    g.360390
 GGTAGCCTAGCAGATGTAGTTGGACACCTAAGAGCAG | GGGATGAAGTTCTAGAATGGAAT    c.1980
 G  S  L  A  D  V  V  G  H  L  R  A  G |   D  E  V  L  E  W  N      p.660

          .         .         .         .         .         .       g.360450
 GGTAAACCCCTGCCGGGAGCTACAAATGAAGAAGTTTACAACATTATTTTAGAATCAAAA       c.2040
 G  K  P  L  P  G  A  T  N  E  E  V  Y  N  I  I  L  E  S  K         p.680

          .         .         .         .  | 11      .         .    g.363887
 TCAGAACCTCAAGTTGAAATTATTGTTTCAAGGCCTATTGG | TGACATTCCCCGGATTCCT    c.2100
 S  E  P  Q  V  E  I  I  V  S  R  P  I  G  |  D  I  P  R  I  P      p.700

          .         .         | 12         .         .         .    g.366100
 GAGAGCTCCCACCCTCCACTGGAGTCCA | GTTCAAGTTCCTTTGAATCTCAGAAGATGGAA    c.2160
 E  S  S  H  P  P  L  E  S  S |   S  S  S  F  E  S  Q  K  M  E      p.720

          .         .         .         .         .         .       g.366160
 AGGCCTTCCATTTCTGTTATTTCTCCAACAAGTCCTGGAGCTCTAAAAGATGCCCCACAA       c.2220
 R  P  S  I  S  V  I  S  P  T  S  P  G  A  L  K  D  A  P  Q         p.740

          .         .  | 13      .         .         .         .    g.368422
 GTCTTACCAGGGCAACTTTCT | GTGAAGTTGTGGTATGATAAAGTGGGACACCAGCTGATT    c.2280
 V  L  P  G  Q  L  S   | V  K  L  W  Y  D  K  V  G  H  Q  L  I      p.760

          .         .         .         .         .         .       g.368482
 GTAAATGTTCTGCAAGCAACAGATCTACCTGCTAGAGTAGATGGACGTCCTCGAAATCCC       c.2340
 V  N  V  L  Q  A  T  D  L  P  A  R  V  D  G  R  P  R  N  P         p.780

          .         .         .   | 14     .         .         .    g.369002
 TATGTAAAAATGTATTTTCTTCCAGATAGAAG | TGATAAAAGTAAAAGGAGGACCAAAACA    c.2400
 Y  V  K  M  Y  F  L  P  D  R  S  |  D  K  S  K  R  R  T  K  T      p.800

          .         .         .         .         .         .       g.369062
 GTAAAGAAAATACTAGAACCAAAATGGAATCAAACTTTTGTCTATTCACATGTACATCGT       c.2460
 V  K  K  I  L  E  P  K  W  N  Q  T  F  V  Y  S  H  V  H  R         p.820

          .         .         .         .         .         .       g.369122
 AGAGATTTTAGAGAACGAATGTTAGAAATAACTGTGTGGGACCAACCAAGAGTGCAAGAA       c.2520
 R  D  F  R  E  R  M  L  E  I  T  V  W  D  Q  P  R  V  Q  E         p.840

          .         .     | 15   .         .         .         .    g.369304
 GAAGAAAGTGAATTTCTTGGAGAG | ATCCTCATAGAATTGGAGACAGCGCTTTTAGATGAT    c.2580
 E  E  S  E  F  L  G  E   | I  L  I  E  L  E  T  A  L  L  D  D      p.860

          .         .         .         .         .         .       g.369364
 GAACCGCATTGGTATAAACTTCAGACACATGATGAGTCTTCACTACCTCTGCCTCAGCCA       c.2640
 E  P  H  W  Y  K  L  Q  T  H  D  E  S  S  L  P  L  P  Q  P         p.880

          .         .         .         .         .         | 16    g.370816
 TCACCTTTCATGCCAAGGCGACATATTCATGGAGAAAGCTCTAGCAAAAAGCTACAAA | GA    c.2700
 S  P  F  M  P  R  R  H  I  H  G  E  S  S  S  K  K  L  Q  R |       p.900

          .         .         .         .         .         .       g.370876
 TCTCAGCGAATCAGTGATAGTGACATCTCAGATTATGAGGTTGATGATGGTATTGGCGTA       c.2760
 S  Q  R  I  S  D  S  D  I  S  D  Y  E  V  D  D  G  I  G  V         p.920

          . | 17       .         .         .         .         .    g.376228
 GTTCCTCCAG | TAGGCTATAGGTCTAGTGCTAGAGAAAGTAAATCTACAACATTAACTGTG    c.2820
 V  P  P  V |   G  Y  R  S  S  A  R  E  S  K  S  T  T  L  T  V      p.940

          .         .         .         .         .         .       g.376288
 CCAGAACAGCAAAGAACAACTCATCACCGCTCACGTTCAGTATCTCCTCATCGCGGCAAT       c.2880
 P  E  Q  Q  R  T  T  H  H  R  S  R  S  V  S  P  H  R  G  N         p.960

          .         .         .         .        | 18.         .    g.377052
 GATCAGGGAAAGCCGCGTTCACGTTTACCAAATGTGCCATTACAGAG | GAGTTTAGATGAA    c.2940
 D  Q  G  K  P  R  S  R  L  P  N  V  P  L  Q  R  |  S  L  D  E      p.980

          .         .         .         .         .         .       g.377112
 ATTCATCCAACAAGAAGGTCACGTTCTCCAACCAGACACCATGATGCCTCCCGAAGTCCA       c.3000
 I  H  P  T  R  R  S  R  S  P  T  R  H  H  D  A  S  R  S  P         p.1000

          .         .         .         .         .    | 19    .    g.378765
 GTTGATCATAGAACCAGAGATGTGGATAGTCAGTATTTATCAGAACAAGACAG | TGAGCTT    c.3060
 V  D  H  R  T  R  D  V  D  S  Q  Y  L  S  E  Q  D  S  |  E  L      p.1020

          .         .         .         .         .       | 20 .    g.383032
 CTTATGCTGCCCAGAGCAAAACGAGGACGAAGTGCAGAATGCCTACATACTACCAG | ACAT    c.3120
 L  M  L  P  R  A  K  R  G  R  S  A  E  C  L  H  T  T  R  |  H      p.1040

          .         .         .         .         .         .       g.383092
 CTTGTTAGGCACTATAAAACATTACCTCCCAAGATGCCTTTATTACAGAGCAGTTCTCAC       c.3180
 L  V  R  H  Y  K  T  L  P  P  K  M  P  L  L  Q  S  S  S  H         p.1060

          .     | 21   .         .         .         .         .    g.383489
 TGGAATATTTACAG | CTCAATTCTGCCTGCACATACTAAGACCAAATCAGTGACTAGACAG    c.3240
 W  N  I  Y  S  |  S  I  L  P  A  H  T  K  T  K  S  V  T  R  Q      p.1080

          .         .         .         .         .         .       g.383549
 GACATTTCCCTTCATCATGAATGCTTTAACTCAACAGTATTGAGATTTACTGATGAAATA       c.3300
 D  I  S  L  H  H  E  C  F  N  S  T  V  L  R  F  T  D  E  I         p.1100

          | 22         .         .         .         .         .    g.384065
 CTGGTTAG | TGAACTGCAGCCCTTTCTTGACAGGGCTAGGAGTGCTAGTACCAACTGCTTG    c.3360
 L  V  S  |  E  L  Q  P  F  L  D  R  A  R  S  A  S  T  N  C  L      p.1120

          .         .         .         | 23         .         .    g.392424
 AGACCAGATACTAGTTTGCATTCACCAGAACGAGAAAG | GGGTAGATGGTCCCCCTCCCTA    c.3420
 R  P  D  T  S  L  H  S  P  E  R  E  R  |  G  R  W  S  P  S  L      p.1140

          .         .         .         .         .         .       g.392484
 GATAGGAGACGACCTCCTAGTCCCAGGATTCAAATCCAGCATGCGTCTCCGGAGAATGAC       c.3480
 D  R  R  R  P  P  S  P  R  I  Q  I  Q  H  A  S  P  E  N  D         p.1160

    | 24     .         .         .         .         .         .    g.402158
 AG | GCACTCCAGAAAGTCTGAAAGATCTAGCATCCAAAAACAGACTAGGAAAGGCACTGCC    c.3540
 R  |  H  S  R  K  S  E  R  S  S  I  Q  K  Q  T  R  K  G  T  A      p.1180

          .     | 25   .         .         .         .         .    g.408778
 TCTGATGCAGAAAG | GGTTCTCCCAACATGTCTTTCTAGAAGGGGACACGCAGCCCCAAGA    c.3600
 S  D  A  E  R  |  V  L  P  T  C  L  S  R  R  G  H  A  A  P  R      p.1200

          .         .         .         .         .         .       g.408838
 GCAACTGATCAGCCAGTCATTAGGGGAAAACATCCTGCTCGCTCAAGGTCGAGTGAGCAC       c.3660
 A  T  D  Q  P  V  I  R  G  K  H  P  A  R  S  R  S  S  E  H         p.1220

          .         .         .         .         .         .       g.408898
 TCTAGTATCAGAACACTGTGTTCTATGCACCACCTTGTCCCTGGAGGGTCGGCGCCACCT       c.3720
 S  S  I  R  T  L  C  S  M  H  H  L  V  P  G  G  S  A  P  P         p.1240

          .        | 26.         .         .         .         .    g.410030
 TCTCCGCTTCTGACAAG | AATGCACCGACAGAGAAGTCCAACACAATCTCCTCCAGCAGAC    c.3780
 S  P  L  L  T  R  |  M  H  R  Q  R  S  P  T  Q  S  P  P  A  D      p.1260

          .         .         .         .         .         .       g.410090
 ACATCGTTCAGCAGTCGCAGGGGAAGACAGCTCCCACAAGTGCCAGTGAGAAGCGGCAGT       c.3840
 T  S  F  S  S  R  R  G  R  Q  L  P  Q  V  P  V  R  S  G  S         p.1280

          . | 27       .         .         .         .         .    g.425361
 ATAGAACAAG | CAAGCTTAGTAGTGGAGGAGCGAACAAGACAGATGAAAATGAAAGTGCAT    c.3900
 I  E  Q  A |   S  L  V  V  E  E  R  T  R  Q  M  K  M  K  V  H      p.1300

          .         .         .         .         .         .       g.425421
 CGATTTAAGCAGACAACAGGGTCTGGTTCTAGTCAAGAACTTGATCGCGAGCAATATTCC       c.3960
 R  F  K  Q  T  T  G  S  G  S  S  Q  E  L  D  R  E  Q  Y  S         p.1320

     | 28    .         .         .         .         .         .    g.431616
 AAG | TATAACATACATAAAGATCAGTACAGAAGCTGTGATAACGTCTCTGCCAAATCATCA    c.4020
 K   | Y  N  I  H  K  D  Q  Y  R  S  C  D  N  V  S  A  K  S  S      p.1340

          .         .         .         .         .         .       g.431676
 GATAGTGATGTCAGTGATGTTTCCGCCATTTCCCGAACCAGCAGTGCCTCACGCCTCAGC       c.4080
 D  S  D  V  S  D  V  S  A  I  S  R  T  S  S  A  S  R  L  S         p.1360

          .         .         .         .         . | 29       .    g.451663
 AGCACAAGCTTTATGTCAGAGCAATCTGAGCGCCCCAGGGGTAGAATCAG | TTCATTTACC    c.4140
 S  T  S  F  M  S  E  Q  S  E  R  P  R  G  R  I  S  |  S  F  T      p.1380

          .         .         .         .         .         .       g.451723
 CCCAAAATGCAAGGCAGACGGATGGGGACTTCAGGAAGATCCATCATGAAGAGCACCAGT       c.4200
 P  K  M  Q  G  R  R  M  G  T  S  G  R  S  I  M  K  S  T  S         p.1400

          .         .         .         .         .         .       g.451783
 GTCAGTGGAGAGATGTACACACTGGAGCATAATGACGGCAGCCAGTCAGACACAGCTGTG       c.4260
 V  S  G  E  M  Y  T  L  E  H  N  D  G  S  Q  S  D  T  A  V         p.1420

          .         .         .         .         .         .       g.451843
 GGTACAGTTGGAGCAGGTGGAAAGAAACGGAGATCCAGCCTTAGTGCCAAAGTGGTTGCC       c.4320
 G  T  V  G  A  G  G  K  K  R  R  S  S  L  S  A  K  V  V  A         p.1440

          .         .         .         .       | 30 .         .    g.508664
 ATAGTGTCTCGAAGGAGTAGAAGCACATCCCAGCTTAGTCAAACAG | AGTCGGGCCACAAA    c.4380
 I  V  S  R  R  S  R  S  T  S  Q  L  S  Q  T  E |   S  G  H  K      p.1460

          .         .         .         .         .         .       g.508724
 AAGTTAAAAAGTACCATCCAGAGAAGCACAGAAACAGGCATGGCAGCTGAAATGAGAAAG       c.4440
 K  L  K  S  T  I  Q  R  S  T  E  T  G  M  A  A  E  M  R  K         p.1480

          .         .         .         .         .         .       g.508784
 ATGGTAAGGCAGCCGAGCCGAGAGTCTACTGATGGCAGCATCAACAGTTACAGCTCTGAG       c.4500
 M  V  R  Q  P  S  R  E  S  T  D  G  S  I  N  S  Y  S  S  E         p.1500

       | 31  .         .         .         .         .         .    g.510805
 GGCAA | TTTAATATTTCCTGGAGTGCGACTGGGAGCTGACAGTCAATTCAGTGATTTTCTT    c.4560
 G  N  |  L  I  F  P  G  V  R  L  G  A  D  S  Q  F  S  D  F  L      p.1520

          .         .         .         .         .         | 32    g.516303
 GATGGATTGGGACCAGCCCAGCTTGTTGGCCGCCAAACCCTTGCCACCCCTGCAATGG | GT    c.4620
 D  G  L  G  P  A  Q  L  V  G  R  Q  T  L  A  T  P  A  M  G |       p.1540

          .         .         .         .         .         .       g.516363
 GATATACAAATAGGAATGGAGGACAAAAAGGGCCAATTAGAAGTGGAAGTCATTAGAGCA       c.4680
 D  I  Q  I  G  M  E  D  K  K  G  Q  L  E  V  E  V  I  R  A         p.1560

          .         .         .         . | 33       .         .    g.517027
 CGAAGCCTCACACAAAAGCCTGGTTCCAAATCTACACCTG | CTCCATATGTCAAAGTATAT    c.4740
 R  S  L  T  Q  K  P  G  S  K  S  T  P  A |   P  Y  V  K  V  Y      p.1580

          .         .         .         .         .         .       g.517087
 CTTTTGGAAAATGGGGCCTGTATAGCCAAGAAGAAGACAAGAATTGCACGAAAAACCCTT       c.4800
 L  L  E  N  G  A  C  I  A  K  K  K  T  R  I  A  R  K  T  L         p.1600

          .         .         .         .         .         .       g.517147
 GATCCTTTGTATCAGCAGTCTCTGGTTTTTGATGAAAGTCCACAGGGTAAAGTTCTTCAG       c.4860
 D  P  L  Y  Q  Q  S  L  V  F  D  E  S  P  Q  G  K  V  L  Q         p.1620

  | 34       .         .         .         .         .         .    g.518608
  | GTGATTGTCTGGGGAGACTATGGCAGAATGGACCACAAATGCTTTATGGGTGTGGCTCAG    c.4920
  | V  I  V  W  G  D  Y  G  R  M  D  H  K  C  F  M  G  V  A  Q      p.1640

          .         .         .         .         .         .       g.518668
 ATCTTGTTGGAAGAACTCGACCTGTCCAGCATGGTGATCGGATGGTACAAATTGTTCCCA       c.4980
 I  L  L  E  E  L  D  L  S  S  M  V  I  G  W  Y  K  L  F  P         p.1660

          .         .         .         .         .         .       g.518728
 CCGTCCTCACTGGTGGATCCCACACTCACTCCCCTCACCCGGCGGGCTTCCCAGTCATCT       c.5040
 P  S  S  L  V  D  P  T  L  T  P  L  T  R  R  A  S  Q  S  S         p.1680

          .         .         .                                     g.518767
 CTGGAAAGTTCAACTGGGCCTCCCTGTATTCGATCATAG                            c.5079
 L  E  S  S  T  G  P  P  C  I  R  S  X                              p.1692

          .         .         .         .         .         .       g.518827
 tgaactcataccagagtcattccaataaaactctacttttcaggataataatctgaacca       c.*60

          .         .         .         .         .         .       g.518887
 gatatttcatgatcgaaagcattgttggagacagacaatcaacttgtgttttgcctgtag       c.*120

          .         .         .         .         .         .       g.518947
 tagtttttcaataatatgtcccaattgttatttaaaacatggcttcatatgacagaacaa       c.*180

          .         .         .         .         .         .       g.519007
 ggcaatctatcaaatttacaggaagaatcaacatgctggtgagagtcactgatgcttcta       c.*240

          .         .         .         .         .         .       g.519067
 acaaatagaaaaagaggaaactttaaatccacgcatacacgtacacacacacatgcacac       c.*300

          .         .         .         .         .         .       g.519127
 acacacacaccaaattgaacaaactggaaactctcactctgtgaaaagttgtattctaca       c.*360

          .         .         .         .         .         .       g.519187
 catttctgcacagaccacaagcagtgttatttccctgatgtttgagttgttttgttcttt       c.*420

          .         .         .         .         .         .       g.519247
 tgtgtgttttgtttatttgtgtgttgtttgttggttttcgtttcttgagtttttgttttg       c.*480

          .         .         .         .         .         .       g.519307
 ttttcaccacatctgttatttccactagtttttttttggctgtgtcatgacaggcctcat       c.*540

          .         .         .         .         .         .       g.519367
 gatgctaacagagattcttcccttcttttttccaaaagcaccaaaaaaaagggctgaagt       c.*600

          .         .         .         .         .         .       g.519427
 agtctctgtagcatctccccaaagtgttaaacagctacataaggtgaagccaaggaaggg       c.*660

          .         .         .         .         .         .       g.519487
 tttcactagctttcattttataattatttaaagtcttatgtgtggatacccaagagacaa       c.*720

          .         .         .         .         .         .       g.519547
 aaagttatcttccaaaataaataatcacagaagtacttttttaatgaagagcctatctgt       c.*780

          .         .         .         .         .         .       g.519607
 ttgcattctagaaaattaatttatggtttccattgttttgcatggaagacttttaaagaa       c.*840

          .         .         .         .         .         .       g.519667
 gtcaatctgcaactaatgctggggactaaaactaactgcataattgtactttgaaaacac       c.*900

          .         .         .         .         .         .       g.519727
 tccttgtaatgcctttttcttcctgatattaaaaaaatgctcatgtgtataaaccatact       c.*960

          .         .         .         .         .         .       g.519787
 ttgacttcccaaaaatggtgactaggaatggatttgagcctaagacactttgagctatgc       c.*1020

          .         .         .         .         .         .       g.519847
 ccaggcttctcagccatacctcagtgtagacacatccatctgccctggaaagagcatggt       c.*1080

          .         .         .         .         .         .       g.519907
 atgagctgttcaatattccactggaaattccagttgaaatattctgcactaaactattgt       c.*1140

          .         .         .         .         .         .       g.519967
 ttttattgaattttagtttacatttctttgagattgatgcaagcacaaagcttgattttt       c.*1200

          .         .         .         .         .         .       g.520027
 taatgcaaagtatcttactttttggggggaaaataaacaaaatgaactttcaatttgcat       c.*1260

          .         .         .         .         .         .       g.520087
 tttcatttagtttctcttggccttgaatttcccttgtgacattctgtacatgtgctacaa       c.*1320

          .         .         .         .         .         .       g.520147
 actgcagtctctgcaggtgcattgatatgttctccctccttttatgagtcactccacttt       c.*1380

          .         .         .         .         .         .       g.520207
 tgtgattacacaaatagagcagcatgacttggaactgttcagagctgcatgcacattttg       c.*1440

          .         .         .         .         .         .       g.520267
 taaaaaaaaaaaattttaaaaagaaaagaaacaaaaggttatttaataatgtatgttagt       c.*1500

          .         .         .         .         .         .       g.520327
 tccacataggccagcttgtatgttgcatgtacttgtacagtttgcttgttaattactata       c.*1560

          .         .         .         .         .         .       g.520387
 ccgaaataaccaagaaatctaagccatccacttttgttatagacattttgcaggttttag       c.*1620

          .         .         .         .         .         .       g.520447
 ccagactcagtctctgggtctgtggtgaaatgtctatagatggactttattttttaccct       c.*1680

          .         .         .         .         .         .       g.520507
 ccggaaaacgtgatgtagtacggaccaaattccttctaataaatattttggtgtagattc       c.*1740

          .         .         .         .         .         .       g.520567
 ctactgtggggctgtaacacatgtagacactgtgtacacactaggttttaattcatagac       c.*1800

          .         .         .         .         .         .       g.520627
 atactgcctgcaccaagtgaattatttattattatttacacatgccagaattatctgccc       c.*1860

          .         .         .         .         .         .       g.520687
 atcattccacagggcacagattgaccactgctcaccatgctgagtaggaggaactgaagc       c.*1920

          .         .         .         .         .         .       g.520747
 attggtgcacttctactagattccgttctgtcttagtggccaacaatcaactgattataa       c.*1980

          .         .         .         .         .         .       g.520807
 ttgggtagtatctttctattttgaccacttgtcttaacactcccctgtgcttttaaatga       c.*2040

          .         .         .         .         .         .       g.520867
 aattccaattcatgtatgtaaacatgtttaataaaatttacttttcatgtcagtcagtag       c.*2100

          .         .         .         .         .         .       g.520927
 ccatatgtgttctatgtcttgccagatttccattgtgggttctatggtgcaaaatgggag       c.*2160

          .         .         .         .         .         .       g.520987
 ccaggccatgggaaggggaggctggggtttgttgtctgctgcgggcatttgacttgactt       c.*2220

          .         .         .         .         .         .       g.521047
 gtcactgcactatattatgtcttaatcgatggcccaaagggtactttgcatcacatacaa       c.*2280

          .         .         .         .         .         .       g.521107
 gttttcacttcgtcagcctgtctaagtgagcacatgactatacttctgaaaagtggcatt       c.*2340

          .         .         .         .         .         .       g.521167
 attaaaaataataaatctcagtaagaatcaaatggaaggttgttttctgctgctgtttga       c.*2400

          .         .                                               g.521196
 atgtgctaataaaagagacaactctattg                                      c.*2429

 (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 10th nucleotide is indicated by a "." above the sequence. The Regulating synaptic membrane exocytosis 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 10th 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.

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