ER lipid raft associated 1 (ERLIN1) - coding DNA reference sequence

(used for variant description)

(last modified September 26, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_006459.3 in the ERLIN1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000010.10, covering ERLIN1 transcript NM_006459.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5131
          gatgcgtcactgatcggtgaggcgcggccgaggggtcggctttcctcgcga       c.-301

 .         .         .         .         .         .                g.5191
 gcctgcggctgggcttcttctcagttagtgccttccacccgggagcgacccttgggagag       c.-241

 .         .         .         .         .         .                g.5251
 ggagtttcaggaagctcaccgagcaggggcggcccactggcctccgggggcggaggagtt       c.-181

 .         .         .         .         .         .                g.5311
 ggcaaggggtcagcgggctcagccagaagggaagaatgaggggacaggggtactggactc       c.-121

 .         .         .         .         .         .                g.5371
 cccggctcagcctgcgagagagcgccaagtttccggagggagagggtagaaactggaggg       c.-61

 .         .         .         .         .         .                g.5431
 ggtggacctgtcactcacgggactgagggtccttttctcccgctcccaggaggaacgaga       c.-1

          .         .         .         .         .         .       g.5491
 ATGAATATGACTCAAGCCCGGGTTCTGGTGGCTGCAGTGGTGGGGTTGGTGGCTGTCCTG       c.60
 M  N  M  T  Q  A  R  V  L  V  A  A  V  V  G  L  V  A  V  L         p.20

          .         .         .         .         .    | 02    .    g.7227
 CTCTACGCCTCCATCCACAAGATTGAGGAGGGCCATCTGGCTGTGTACTACAG | GGGAGGA    c.120
 L  Y  A  S  I  H  K  I  E  E  G  H  L  A  V  Y  Y  R  |  G  G      p.40

          .         .         .         .         .         .       g.7287
 GCTTTACTAACTAGCCCCAGTGGACCAGGCTATCATATCATGTTGCCTTTCATTACTACG       c.180
 A  L  L  T  S  P  S  G  P  G  Y  H  I  M  L  P  F  I  T  T         p.60

          .      | 03  .         .         .         .         .    g.11855
 TTCAGATCTGTGCAG | ACAACACTACAAACTGATGAAGTTAAAAATGTGCCTTGTGGAACA    c.240
 F  R  S  V  Q   | T  T  L  Q  T  D  E  V  K  N  V  P  C  G  T      p.80

    | 04     .         .         .         .         .         .    g.12921
 AG | TGGTGGGGTCATGATCTATATTGACCGAATAGAAGTGGTTAATATGTTGGCTCCTTAT    c.300
 S  |  G  G  V  M  I  Y  I  D  R  I  E  V  V  N  M  L  A  P  Y      p.100

      | 05   .         .         .         .         .         .    g.15043
 GCAG | TGTTTGATATCGTGAGGAACTATACTGCAGATTATGACAAGACCTTAATCTTCAAT    c.360
 A  V |   F  D  I  V  R  N  Y  T  A  D  Y  D  K  T  L  I  F  N      p.120

          .         .         .         .         .         .       g.15103
 AAAATCCACCATGAGCTGAACCAGTTCTGCAGTGCCCACACACTTCAGGAAGTTTACATT       c.420
 K  I  H  H  E  L  N  Q  F  C  S  A  H  T  L  Q  E  V  Y  I         p.140

          . | 06       .         .         .         .         .    g.16826
 GAATTGTTTG | ATCAAATAGATGAAAACCTGAAGCAAGCTCTGCAGAAAGACTTAAACCTC    c.480
 E  L  F  D |   Q  I  D  E  N  L  K  Q  A  L  Q  K  D  L  N  L      p.160

          .         .     | 07   .         .         .         .    g.23687
 ATGGCCCCAGGTCTCACTATACAG | GCTGTGCGTGTTACAAAACCCAAAATCCCAGAAGCC    c.540
 M  A  P  G  L  T  I  Q   | A  V  R  V  T  K  P  K  I  P  E  A      p.180

          .         .    | 08    .         .         .         .    g.26999
 ATAAGAAGAAATTTTGAGTTAAT | GGAGGCTGAGAAGACAAAACTCCTTATAGCTGCACAG    c.600
 I  R  R  N  F  E  L  M  |  E  A  E  K  T  K  L  L  I  A  A  Q      p.200

          .         .         .         .         .      | 09  .    g.34828
 AAACAAAAGGTTGTGGAAAAAGAAGCTGAGACAGAGAGGAAAAAGGCAGTTATAG | AAGCA    c.660
 K  Q  K  V  V  E  K  E  A  E  T  E  R  K  K  A  V  I  E |   A      p.220

          .         .         .         .         .         .       g.34888
 GAGAAGATTGCACAAGTGGCAAAAATTCGGTTTCAGCAGAAAGTGATGGAAAAAGAAACT       c.720
 E  K  I  A  Q  V  A  K  I  R  F  Q  Q  K  V  M  E  K  E  T         p.240

          .         .      | 10  .         .         .         .    g.36153
 GAAAAGCGCATTTCTGAAATCGAAG | ATGCTGCATTCCTGGCCCGAGAGAAAGCGAAAGCA    c.780
 E  K  R  I  S  E  I  E  D |   A  A  F  L  A  R  E  K  A  K  A      p.260

          .         .         .         .      | 11  .         .    g.38720
 GATGCTGAATATTATGCTGCACACAAATATGCCACCTCAAACAAG | CACAAGTTGACCCCG    c.840
 D  A  E  Y  Y  A  A  H  K  Y  A  T  S  N  K   | H  K  L  T  P      p.280

          .         .         .         .         .         .       g.38780
 GAATATCTGGAGCTCAAAAAGTACCAGGCCATTGCTTCTAACAGTAAGATCTATTTTGGC       c.900
 E  Y  L  E  L  K  K  Y  Q  A  I  A  S  N  S  K  I  Y  F  G         p.300

          .         .         .         .         .         .       g.38840
 AGCAACATCCCTAACATGTTCGTGGACTCCTCATGTGCTTTGAAATATTCAGATATTAGG       c.960
 S  N  I  P  N  M  F  V  D  S  S  C  A  L  K  Y  S  D  I  R         p.320

          .         .         .         .         .         .       g.38900
 ACTGGAAGAGAAAGCTCACTCCCCTCTAAGGAGGCTCTTGAACCCTCTGGAGAGAACGTC       c.1020
 T  G  R  E  S  S  L  P  S  K  E  A  L  E  P  S  G  E  N  V         p.340

          .         .                                               g.38927
 ATCCAAAACAAAGAGAGCACAGGTTGA                                        c.1047
 I  Q  N  K  E  S  T  G  X                                          p.348

          .         .         .         .         .         .       g.38987
 tgcaagaggtggaaatgttctccatatcaagatgtggcccaaggggttaagtgggaacaa       c.*60

          .         .         .         .         .         .       g.39047
 tcattatacggactcttcagatttacagagaacttacacttcatctgttccacctctcct       c.*120

          .         .         .         .         .         .       g.39107
 gcgatagtcctgggtgctccactgattggaggatagagccagctgtctgacacacaaatg       c.*180

          .         .         .         .         .         .       g.39167
 gtcttttcagccacagtcttatcaagtatcctatatgtattcctttctaaactgctactc       c.*240

          .         .         .         .         .         .       g.39227
 atgaatgaggaaagtctgatgctaagatactgcctgcactggaatgttaaacactaaata       c.*300

          .         .         .         .         .         .       g.39287
 tataacaagctgtgttttcctaagctgagatctgttgaataatgtttacattcgtccccc       c.*360

          .         .         .         .         .         .       g.39347
 ggggaaatgtatgctcagccaccattcaagagatgactgagaaggagatggtaagttcaa       c.*420

          .         .         .         .         .         .       g.39407
 gaagactgattgcacctgggacccaggccctttctttgggatccagtcccagccttcatc       c.*480

          .         .         .         .         .         .       g.39467
 catgtgattaagatccaggccgctgaagttccccaggaaatgatcttccacttgagcaac       c.*540

          .         .         .         .         .         .       g.39527
 cttttacttgatacgatttgcacctttctgttttcctgcagtcagggtggtggcctgcag       c.*600

          .         .         .         .         .         .       g.39587
 ggacctgagctttgctacccaaccagattcctcatagagattcctaatcactagtttctt       c.*660

          .         .         .         .         .         .       g.39647
 gtattcataaactcagagatacagagggcttggtttgaagttggggtgagatgaaacctt       c.*720

          .         .         .         .         .         .       g.39707
 tgctctgagccaaagctctggggccttgcattccctgcattgggttgatgactgtcagca       c.*780

          .         .         .         .         .         .       g.39767
 tcactgccgcaggccatgcttgactaaggtacctggttttagccacagccacctccttgt       c.*840

          .         .         .         .         .         .       g.39827
 atgttacctttcagctctggccaagagtgggacagggttttaaccacaaataggagcagc       c.*900

          .         .         .         .         .         .       g.39887
 atgcaattcctagtgacttgctgcacagtattgtatcataattacaggaagtttttattt       c.*960

          .         .         .         .         .         .       g.39947
 ttaaaactggatctggggtatattcatttgccccatcacctctgtctaaaggcccaagtc       c.*1020

          .         .         .         .         .         .       g.40007
 ctagggctgccatggtcacaagcacactgatgctccttaagattgtttatctggagccca       c.*1080

          .         .         .         .         .         .       g.40067
 catagtgtggaacaaaaagtcacctagaaagcatccttggtcatcattgtctccttccca       c.*1140

          .         .         .         .         .         .       g.40127
 cctggcccagagatgcttaaatccaagttgtttctccagctgtcacctcccccaggagat       c.*1200

          .         .         .         .         .         .       g.40187
 caggattccactgacgtcctgggcagccagtgaatttaattttccatgagaaacaacaga       c.*1260

          .         .         .         .         .         .       g.40247
 gttaacctgtggcattaggagacctacttcatgtggaccctttttttccttcagtttaac       c.*1320

          .         .         .         .         .         .       g.40307
 ttttctggagcagtgtgctgcgtagttcggcctgagtttgtgcagcttgttaagacaact       c.*1380

          .         .         .         .         .         .       g.40367
 cttgtgtacgctatgttgaagctcaacaaaaaagtcatgggaccacttctagaaatcttt       c.*1440

          .         .         .         .         .         .       g.40427
 cagctgtcaggcctgtcagtctcatgacagtttgttggttgtgccaaacactttatttgg       c.*1500

          .         .         .         .         .         .       g.40487
 gaaaggaaagcccagatttgaatgggtctttcccctgggccttatcctatagaggcattt       c.*1560

          .         .         .         .         .         .       g.40547
 gtaatatggagaaaataatttttcatttttgctcatttaattctataaattctctttata       c.*1620

          .         .         .         .         .         .       g.40607
 aatgaattttgtgttctttagttctccttaaaagaacttttgaattataaaaataaaatc       c.*1680

          .         .         .         .         .         .       g.40667
 tttacctgtcgaattgttgctgcagatgattgttgtggaaaatctggatcattgacctct       c.*1740

          .         .         .         .         .         .       g.40727
 gtgctttcattcctagagatgttttatagttacatgagcaaaagctgttgccccaaagtg       c.*1800

          .         .         .         .         .         .       g.40787
 atggccctggaggcggggctgaggaacagggaaatgccgctgtgaagtcttaaagcactt       c.*1860

          .         .         .         .         .         .       g.40847
 ctgcttaaactcccatgtgtgaggagtgtgcctccctgtgccctctcagctctgaggctg       c.*1920

          .         .         .         .         .         .       g.40907
 gccgtctttcggggtgttccttttggcaaatatacactgtaatcttgagtctaaatttat       c.*1980

          .         .         .         .         .         .       g.40967
 atgttgaaatgctaccttttttaaaataagaaactaaataaaattattttactatcagtg       c.*2040

                                                                    g.40968
 a                                                                  c.*2041

 (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 ER lipid raft associated 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.