Era G-protein-like 1 (E. coli) (ERAL1) - coding DNA reference sequence

(used for variant description)

(last modified August 19, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_005702.2 in the ERAL1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering ERAL1 transcript NM_005702.2.

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

 (upstream sequence)
                                                   .                g.5010
                                                   tgcggctgta       c.-1

          .         .         .         .         .         .       g.5070
 ATGGCTGCCCCCAGCTGGCGCGGGGCTAGGCTTGTTCAATCGGTGTTAAGAGTCTGGCAG       c.60
 M  A  A  P  S  W  R  G  A  R  L  V  Q  S  V  L  R  V  W  Q         p.20

          .         .         .         .         .         .       g.5130
 GTGGGCCCTCATGTCGCGAGGGAGCGGGTGATCCCTTTTTCCTCACTCTTAGGCTTCCAA       c.120
 V  G  P  H  V  A  R  E  R  V  I  P  F  S  S  L  L  G  F  Q         p.40

          .         .         .         .         .         .       g.5190
 CGGAGGTGCGTGTCCTGCGTCGCGGGGTCCGCTTTCTCTGGTCCCCGCTTGGCCTCGGCT       c.180
 R  R  C  V  S  C  V  A  G  S  A  F  S  G  P  R  L  A  S  A         p.60

          .         .         .         .         .         .       g.5250
 TCTCGCAGTAATGGCCAGGGCTCTGCCCTGGACCACTTCCTCGGATTCTCTCAGCCCGAC       c.240
 S  R  S  N  G  Q  G  S  A  L  D  H  F  L  G  F  S  Q  P  D         p.80

          .         .         .         .    | 02    .         .    g.6256
 AGTTCGGTGACTCCTTGCGTCCCCGCGGTGTCCATGAACAGAG | ATGAGCAGGATGTCCTC    c.300
 S  S  V  T  P  C  V  P  A  V  S  M  N  R  D |   E  Q  D  V  L      p.100

          .         .         .         .         .         .       g.6316
 TTGGTCCATCACCCTGATATGCCTGAGAATTCCCGGGTCCTACGAGTGGTCCTCCTGGGA       c.360
 L  V  H  H  P  D  M  P  E  N  S  R  V  L  R  V  V  L  L  G         p.120

          .         .         .         .         .  | 03      .    g.6489
 GCCCCGAATGCAGGGAAGTCAACACTCTCCAACCAGCTACTGGGCCGAAAG | GTGTTCCCT    c.420
 A  P  N  A  G  K  S  T  L  S  N  Q  L  L  G  R  K   | V  F  P      p.140

          .         .         .         .         .         .       g.6549
 GTTTCCAGGAAGGTGCATACTACTCGCTGCCAAGCTCTGGGGGTCATCACAGAGAAGGAG       c.480
 V  S  R  K  V  H  T  T  R  C  Q  A  L  G  V  I  T  E  K  E         p.160

           | 04        .         .         .         .       | 05 . g.8125
 ACCCAGGTG | ATTCTACTTGACACACCTGGCATTATCAGTCCTGGTAAACAGAAGAG | GCAT c.540
 T  Q  V   | I  L  L  D  T  P  G  I  I  S  P  G  K  Q  K  R  |  H   p.180

          .         .         .         .         .         | 06    g.8351
 CACCTGGAGCTCTCTTTGTTGGAAGATCCATGGAAGAGCATGGAATCTGCTGATCTTG | TT    c.600
 H  L  E  L  S  L  L  E  D  P  W  K  S  M  E  S  A  D  L  V |       p.200

          .         .         .         .         .         .       g.8411
 GTGGTTCTTGTGGATGTCTCAGACAAGTGGACACGGAACCAGCTCAGCCCCCAGTTGCTC       c.660
 V  V  L  V  D  V  S  D  K  W  T  R  N  Q  L  S  P  Q  L  L         p.220

          .         .         .         .         .  | 07      .    g.8560
 AGGTGCTTGACCAAGTACTCCCAGATCCCTAGTGTCCTGGTCATGAACAAG | GTAGATTGT    c.720
 R  C  L  T  K  Y  S  Q  I  P  S  V  L  V  M  N  K   | V  D  C      p.240

          .         .         .         .         .         .       g.8620
 TTGAAGCAGAAGTCAGTTCTCCTGGAGCTCACGGCAGCCCTCACTGAAGGTGTGGTCAAT       c.780
 L  K  Q  K  S  V  L  L  E  L  T  A  A  L  T  E  G  V  V  N         p.260

          .         .         .         .         .         .       g.8680
 GGCAAAAAGCTCAAGATGAGGCAGGCCTTCCACTCACACCCTGGCACCCATTGCCCCAGC       c.840
 G  K  K  L  K  M  R  Q  A  F  H  S  H  P  G  T  H  C  P  S         p.280

          .         .         .         .         .         .       g.8740
 CCAGCAGTTAAGGACCCAAACACACAATCTGTGGGAAATCCTCAGAGGATTGGCTGGCCC       c.900
 P  A  V  K  D  P  N  T  Q  S  V  G  N  P  Q  R  I  G  W  P         p.300

          .         .         .         .         .         .       g.8800
 CACTTCAAGGAGATCTTCATGTTGTCAGCCCTAAGCCAGGAGGACGTGAAAACACTAAAG       c.960
 H  F  K  E  I  F  M  L  S  A  L  S  Q  E  D  V  K  T  L  K         p.320

  | 08       .         .         .         .         .         .    g.8999
  | CAATACCTTCTGACACAGGCCCAGCCAGGGCCCTGGGAGTACCACAGTGCAGTCCTCACT    c.1020
  | Q  Y  L  L  T  Q  A  Q  P  G  P  W  E  Y  H  S  A  V  L  T      p.340

          .         .         .         .         .         .       g.9059
 AGCCAGACACCAGAAGAGATCTGTGCCAACATTATCCGAGAGAAGCTCCTAGAACACCTG       c.1080
 S  Q  T  P  E  E  I  C  A  N  I  I  R  E  K  L  L  E  H  L         p.360

          .         .         . | 09       .         .         .    g.9208
 CCCCAGGAGGTGCCTTACAATGTACAGCAG | AAGACAGCAGTGTGGGAGGAAGGACCAGGT    c.1140
 P  Q  E  V  P  Y  N  V  Q  Q   | K  T  A  V  W  E  E  G  P  G      p.380

          .         .         .         .         .  | 10      .    g.10415
 GGGGAGCTGGTTATCCAACAGAAGCTTCTGGTGCCCAAAGAATCTTATGTG | AAACTCCTG    c.1200
 G  E  L  V  I  Q  Q  K  L  L  V  P  K  E  S  Y  V   | K  L  L      p.400

          .         .         .         .         .         .       g.10475
 ATTGGTCCGAAGGGCCACGTGATCTCCCAGATAGCACAGGAGGCAGGCCATGACCTCATG       c.1260
 I  G  P  K  G  H  V  I  S  Q  I  A  Q  E  A  G  H  D  L  M         p.420

          .         .         .         .         .                 g.10529
 GACATCTTCCTCTGCGATGTTGACATCCGCCTCTCTGTGAAGCTCCTCAAGTGA             c.1314
 D  I  F  L  C  D  V  D  I  R  L  S  V  K  L  L  K  X               p.437

          .         .         .         .         .         .       g.10589
 ccaccctctactgaccctcccagggcattccagctcaagctgctggcaggaactgaccag       c.*60

          .         .         .         .         .         .       g.10649
 ttctgtccttggctggggaccctccaggcactggtgagagacatgaacactgactggcca       c.*120

          .         .         .         .         .         .       g.10709
 ctagctggcctggccctgttgagtctgcacagtccctgcccagctgtgtcttctgttgga       c.*180

          .         .         .         .         .         .       g.10769
 agaaggaacctgccttagctcagtttccaggtggttcctctgcctggcaccacagctaca       c.*240

          .         .         .         .         .         .       g.10829
 aaggtgtagctaagaagatggcccattggtgggagcaatgtcaccctgcctccagctagc       c.*300

          .         .         .         .         .         .       g.10889
 tatgggcccagagtttctccctgagtcgctgttgctagcagggagatttctcttcctgcc       c.*360

          .         .         .         .         .         .       g.10949
 ctcacttctttcaccttgaacttggataagaactcgtgtctcctgagtgaggtagcgcct       c.*420

          .         .         .         .         .         .       g.11009
 cccatctgctccccaattcttgatctctcccaccccatccctctccccagtcttggatac       c.*480

          .         .                                               g.11030
 taataaaatataagcattctg                                              c.*501

 (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 Era G-protein-like 1 (E. coli) 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.