RAB18, member RAS oncogene family (RAB18) - coding DNA reference sequence

(used for variant description)

(last modified December 10, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_001256410.1 in the RAB18 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering RAB18 transcript NM_001256410.1.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5016
                                             ggggattctgggtcgc       c.-181

 .         .         .         .         .         .                g.5076
 gcagccgtggagctacctcaaggcggaactggggagtccagggcttcggcagcctgaaca       c.-121

 .         .         .         .         .         .                g.5136
 cccggtgtgaaaggaaggtggcagacgtggagcggcgcgcatgcgcagcagctcactctg       c.-61

 .         .         .         .         .         .                g.5196
 ctgaagggctgagaggcgcacccgggcggccagctgggctcggagcggaacggggtcagg       c.-1

          .         .         .         .         .         .       g.5256
 ATGGACGAGGACGTGCTAACCACCCTGAAGATCCTCATCATCGGCGAGAGTGGGGTGGGC       c.60
 M  D  E  D  V  L  T  T  L  K  I  L  I  I  G  E  S  G  V  G         p.20

          | 02         .         .         .         .         .    g.10753
 AAGTCCAG | CCTGCTCTTGAGGTTCACAGATGATACGTTTGATCCAGAACTTGCAGCAACA    c.120
 K  S  S  |  L  L  L  R  F  T  D  D  T  F  D  P  E  L  A  A  T      p.40

      | 03   .         .         .         .         .         .    g.27710
 ATAG | GTGTTGACTTTAAGGTGAAAACAATTTCAGTGGATGGAAATAAGGCTAAACTTGCA    c.180
 I  G |   V  D  F  K  V  K  T  I  S  V  D  G  N  K  A  K  L  A      p.60

        | 04 .         .         .         .         .         .    g.32409
 ATATGG | GTTACTTTGCATCAGCAGACTGCAAACTTTTTCTTAAAGAGCCAGATAGGAAAT    c.240
 I  W   | V  T  L  H  Q  Q  T  A  N  F  F  L  K  S  Q  I  G  N      p.80

          .         .         .    | 05    .         .         .    g.33360
 AGTCCAATCCTGAAGTGGGCCATGTGGCAATAC | GATACTGCTGGTCAAGAGAGGTTTAGA    c.300
 S  P  I  L  K  W  A  M  W  Q  Y   | D  T  A  G  Q  E  R  F  R      p.100

          .         .         .         .       | 06 .         .    g.34575
 ACATTAACTCCCAGCTATTATAGAGGTGCACAGGGTGTTATATTAG | TTTATGATGTCACA    c.360
 T  L  T  P  S  Y  Y  R  G  A  Q  G  V  I  L  V |   Y  D  V  T      p.120

          .         .         .         .         .         .       g.34635
 AGAAGAGATACATTTGTTAAACTGGATAATTGGTTAAATGAATTGGAAACATACTGTACA       c.420
 R  R  D  T  F  V  K  L  D  N  W  L  N  E  L  E  T  Y  C  T         p.140

          .         .         .         .      | 07  .         .    g.34769
 AGAAATGACATAGTAAACATGCTAGTTGGAAATAAAATCGATAAG | GAAAATCGTGAAGTC    c.480
 R  N  D  I  V  N  M  L  V  G  N  K  I  D  K   | E  N  R  E  V      p.160

          .         .         .         .         .   | 08     .    g.38710
 GATAGAAATGAAGGCCTGAAATTTGCACGAAAGCATTCCATGTTATTTATAG | AGGCAAGT    c.540
 D  R  N  E  G  L  K  F  A  R  K  H  S  M  L  F  I  E |   A  S      p.180

          .         .         .         .         .         .       g.38770
 GCAAAAACCTGTGATGGTGTACAATGTGCCTTTGAAGAACTTGTTGAAAAGATCATTCAG       c.600
 A  K  T  C  D  G  V  Q  C  A  F  E  E  L  V  E  K  I  I  Q         p.200

          .         .         .         .         .         .       g.38830
 ACCCCTGGACTGTGGGAAAGTGAGAACCAGAATAAAGGAGTCAAACTGTCACACAGGGAA       c.660
 T  P  G  L  W  E  S  E  N  Q  N  K  G  V  K  L  S  H  R  E         p.220

          .         .         .         .                           g.38878
 GAAGGCCAAGGAGGAGGAGCCTGTGGTGGTTATTGCTCTGTGTTATAA                   c.708
 E  G  Q  G  G  G  A  C  G  G  Y  C  S  V  L  X                     p.235

          .         .         .         .         .         .       g.38938
 actctgggaaattccatctcttgcatatttgatcagatagtgacatctttctgtatataa       c.*60

          .         .         .         .         .         .       g.38998
 actctttaactgctattttagggaccttgcagtttgcacataattgttttatatcatagc       c.*120

          .         .         .         .         .         .       g.39058
 agtaaatatttgcaagaaatcccactcatcgaccccgggtaaaatgttatggtaagcatg       c.*180

          .         .         .         .         .         .       g.39118
 cacagtttgcagtctacagtttttttatgtagcacaaaataggtgtacctttataagtac       c.*240

          .         .         .         .         .         .       g.39178
 attcaattttatgatttacatttatcatgtaatttttaaaaaaatccatctatctaggat       c.*300

          .         .         .         .         .         .       g.39238
 atgttgatacaaagtctgcttttgctattctttttgcttaaatactcctatcattttctg       c.*360

          .         .         .         .         .         .       g.39298
 aattacttggtatttagaactcctagcaccacggggaagaatagaggtatcatcaaacgt       c.*420

          .         .         .         .         .         .       g.39358
 ggcaaattttctttcaggaataataaagagcatgattccacagcttttctgggatgtttg       c.*480

          .         .         .         .         .         .       g.39418
 agattcttttttagtactaagcaaaattctcatcacagaatgtagcccaggccaatttat       c.*540

          .         .         .         .         .         .       g.39478
 aactaaatctctatttgttcagatgatgcttctaaaacagcattgataggttaaagaagc       c.*600

          .         .         .         .         .         .       g.39538
 ttggtatttttaatttacttcaatgattagctcagttgcttaactggagttttaatcctg       c.*660

          .         .         .         .         .         .       g.39598
 tgatatgtacattggattcatgactgtgcagcatttttagttatgtggtgtttggcagaa       c.*720

          .         .         .         .         .         .       g.39658
 tgacaataaggttttcccccattttggtttcaggaggacatgaatagtgtgtttattgta       c.*780

          .         .         .         .         .         .       g.39718
 actcctcatacacttttaaaaccaacatcttttttcataaatgttggtagtgtttgtcca       c.*840

          .         .         .         .         .         .       g.39778
 ggtaccttaactgtagcttgtgtaatgttgatgaatatctgtatcttacggcttccataa       c.*900

          .         .         .         .         .         .       g.39838
 tggctagttgatattcaaaaacctatttctgtgttttgaggggtggggaaaaaaaacact       c.*960

          .         .         .         .         .         .       g.39898
 aagtgataatttgaaaaaggcatattgcttccagattctgatgtgtgagggaaaatactg       c.*1020

          .         .         .         .         .         .       g.39958
 tcacaatgaaaatcttgacaatttacttaacaagtaaccagtagttcatcaaaaccaact       c.*1080

          .         .         .         .         .         .       g.40018
 tgtacagactaataaatctttttcacagtattcagttttctcacctcttgctattgtata       c.*1140

          .         .         .         .         .         .       g.40078
 ttgtagatttttttcattcatgtgttatttaatttacactgatctctgctattttaaccc       c.*1200

          .         .         .         .         .         .       g.40138
 cccaaataagttatttgtcctttaaggttggttactataatacccctcagtaagattcca       c.*1260

          .         .         .         .         .         .       g.40198
 gtattaatttctgggcagtttgttctctgtatacaattgcaaatgataagcatttttgtg       c.*1320

          .         .         .         .         .         .       g.40258
 agtgaccacctttgcaatatgtttgttaatttacttcatgttgggttctttctgaaatgt       c.*1380

          .         .         .         .         .         .       g.40318
 acatctttacatataaaaacctcacattctacttgatttacacttcctagtctacattac       c.*1440

          .         .         .         .         .         .       g.40378
 atgtggttgaaggttttatacattctatatgcttttactaaatatacaagatttactact       c.*1500

          .         .         .         .         .         .       g.40438
 agaaatttggagaaagaacactaacacatgtacttgtgatttgttcatgttatattaaaa       c.*1560

          .         .         .         .         .         .       g.40498
 cttgagatttgtgtatttatgtagagtctgtattgacaagactgttgttttttgctcctt       c.*1620

          .         .         .         .         .         .       g.40558
 gagctatataataatctgtgtattggattgttgtcttgatttggtctaaatttgaatata       c.*1680

          .         .         .         .         .         .       g.40618
 tatgagttacttgaatataacaaaaatgaattttgtttgatagatttatattgtaacctt       c.*1740

          .         .         .         .         .         .       g.40678
 tttctagttcttgaataaatatagcctgctttccctagatgcatttgtgtaggaagtata       c.*1800

          .         .         .         .         .         .       g.40738
 tacatttccctattactctcatcagctgaagaatatgtactattgtgttactcaaattat       c.*1860

          .         .         .         .         .         .       g.40798
 gtggctttcattttgttgttttgttgcaagcttagtgttttgtagtggaggttttgtaaa       c.*1920

          .         .         .         .         .         .       g.40858
 tgaaacagttgtaatatctaaggtcaggcacctagtaacagggttttgttaattcttttc       c.*1980

          .         .         .         .         .         .       g.40918
 agaatcattgaagcagtcttaaagggtcttttgcagatggtacaaattagaacaattaga       c.*2040

          .         .         .         .         .         .       g.40978
 atatagtattttgagttctagtagtactgagattgacccaaacaaataaaaaactattca       c.*2100

          .         .         .         .         .         .       g.41038
 atttctgagtaatagttaatatttattgaaagcttccttggtgccagatgcctttctaag       c.*2160

          .         .         .         .         .         .       g.41098
 tgctgaattatctcattaaacctcacagcaaccttaagagattagtactcctattatgcc       c.*2220

          .         .         .         .         .         .       g.41158
 cattttaaaggtgaggacaacacaatgtaggtatgttaggtaacccccaaagatcacata       c.*2280

          .         .         .         .         .         .       g.41218
 gctactcagtcactgagctggattccagtcatggcatttttacttctgagcccatactct       c.*2340

          .         .         .         .         .         .       g.41278
 tcaccatcgctcattttacaatgggtagttagttaccagctttttgtaacacaaccaagt       c.*2400

          .         .         .         .         .         .       g.41338
 taaggcagttccactatttctttatcactcttttgttatatgtaatagaagtatttcaca       c.*2460

          .         .         .         .         .         .       g.41398
 cttttgggttatagagtaaatcccatgatgtaaacctacctcataagtcatgtgacataa       c.*2520

          .         .         .         .         .         .       g.41458
 aagttaaggtagtggagtaggtggtcttatttctttcacctgctcagagtggactgaaaa       c.*2580

          .         .         .         .         .         .       g.41518
 tcctgacttagaaaaggtacaaagttaggggacttatggtaccttcactttttatgtgag       c.*2640

          .         .         .         .         .         .       g.41578
 aatagaaattatggaaacagtaatttgctcaaaactgaaatctggggtgatgttttcatt       c.*2700

          .         .         .         .         .         .       g.41638
 tcatgtatttgattgccatccataaactcatacttggtgttgacattctagctgagtgtt       c.*2760

          .         .         .         .         .         .       g.41698
 gtggaaatagacttgattttgattcatcgtagcttgcatggtcaagagacatgattctct       c.*2820

          .         .         .         .         .         .       g.41758
 actaagggtggggctagcaccatagctcataaaagaatccttcttacaccagtacttgtt       c.*2880

          .         .         .         .         .         .       g.41818
 ctgcctgtgagttggcacagacttacctaataaccatagtgtctttaagtacaacttaat       c.*2940

          .         .         .         .         .         .       g.41878
 acatattttttctgtgtatttttttcaaatgaactcaacaattcttcaggtattatagat       c.*3000

          .         .         .         .         .         .       g.41938
 cagagatcctctccatattcaagcattatgcttctctttcttgggggtacatttcactag       c.*3060

          .         .         .         .         .         .       g.41998
 taatacttaggaagttattttgtctttcctgtatttccctagttaagtataggggtaaaa       c.*3120

          .         .         .         .         .         .       g.42058
 acgttattcagctttcagaagacattgttctgactccgaccctgccgtgtatactcaact       c.*3180

          .         .         .         .         .         .       g.42118
 atatagacttcaccctgggttttgcctaaactgttgaaagacgagaataaatagacatag       c.*3240

          .         .         .         .         .         .       g.42178
 acaggctagctaagtcaagactaggggctaaggaatatagaatcacccaggtcttttttt       c.*3300

          .         .         .         .         .         .       g.42238
 ttttttttaatttttctctcctcagttgggaacatctatcatgctggaggactactgtga       c.*3360

          .         .         .         .         .         .       g.42298
 tggggctttacattttactgttttgttgctagcttattgtttcatacttgggaatcagtc       c.*3420

          .         .         .         .         .         .       g.42358
 atgtttctgattgtggtataaagtttgcttaagtgccccttagttaaagctgttcaatga       c.*3480

          .         .         .         .         .         .       g.42418
 atgtaagcacacacacacctacacacatattttgaatagtcgtgtgttcatgcctgttct       c.*3540

          .         .         .         .         .         .       g.42478
 cagtcttgtcccctttaccgtttctcatgcaggttatttcttgctttttttttttttcct       c.*3600

          .         .         .         .         .         .       g.42538
 cttttttaaccggagaagcaacaaattacgtagttttttttgtgtttctttgattactag       c.*3660

          .         .         .         .         .         .       g.42598
 tgagcttgagtacttttaatattttattggatatgtttgtgactgactttaatttcttgt       c.*3720

          .         .         .         .         .         .       g.42658
 ttgtgtgtgctgtggctgcccgatccagcacctacttccttctcccaccataccaccccc       c.*3780

          .         .         .         .         .         .       g.42718
 acccccacccctgcaaacaattggcatgtggtttgggtggcattgtcacaccctcggctt       c.*3840

          .         .         .         .         .         .       g.42778
 tctagattaacccagttaccttttagcagtgccccacttccccagtagcaatggttcagg       c.*3900

          .         .         .         .         .         .       g.42838
 ggtaggcacctgacccagaccagactactgagataaagatgtttgcctaggctttttcag       c.*3960

          .         .         .         .         .         .       g.42898
 gagcaattgaagacatcttgttggagatagtgtgctgggaggagtcacattctgaacttg       c.*4020

          .         .         .         .         .         .       g.42958
 ctgcagctcgtttttctaatataaaggaaccagcctgaggcagtaccagggtgagaggga       c.*4080

          .         .         .         .         .         .       g.43018
 gtctattggagcccttgggaacttctggatcaaattggacctgaattgagatctatttct       c.*4140

          .         .         .         .                           g.43064
 cagctttcacttatgtgagccaataaattccttttttgttgaaggc                     c.*4186

 (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 RAB18, member RAS oncogene family 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.