glycine receptor, alpha 1 (GLRA1) - coding DNA reference sequence

(used for variant description)

(last modified August 4, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_001146040.1 in the GLRA1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011764.1, covering GLRA1 transcript NM_001146040.1.

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

 (upstream sequence)
                     .         .         .         .                g.5047
              caacagacacgctggagtttaacaaacagcaatactcttcgcgctcc       c.-241

 .         .         .         .         .         .                g.5107
 tgaaaagcaggtctggacgctctccgtggtgctgaaacgcctcgcagccgccgctgtccg       c.-181

 .         .         .         .         .         .                g.5167
 tggtatctacgaccccctcgctccaatttcccctggggctctccctccgcgcccctgttc       c.-121

 .         .         .         .         .         .                g.5227
 cccgcctccctttaacatctggattattttttgcaatagcgctttctggttttgtaagtg       c.-61

 .         .         .         .         .         .                g.5287
 ccaatttgaaacatttttgcccccataactcgtggactacaaagcacaaggacctgaaaa       c.-1

          .         .         .         .         .       | 02 .    g.37402
 ATGTACAGCTTCAATACTCTTCGACTCTACCTTTGGGAGACCATTGTATTCTTCAG | CCTT    c.60
 M  Y  S  F  N  T  L  R  L  Y  L  W  E  T  I  V  F  F  S  |  L      p.20

          .         .         .         .         .         .       g.37462
 GCTGCTTCTAAGGAGGCTGAAGCTGCTCGCTCCGCACCCAAGCCTATGTCACCCTCGGAT       c.120
 A  A  S  K  E  A  E  A  A  R  S  A  P  K  P  M  S  P  S  D         p.40

          .         .         .         .         .         .       g.37522
 TTCCTGGATAAGCTAATGGGGAGAACCTCCGGATATGATGCCAGGATCAGGCCCAATTTT       c.180
 F  L  D  K  L  M  G  R  T  S  G  Y  D  A  R  I  R  P  N  F         p.60

      | 03   .         .         .         .         .         .    g.43104
 AAAG | GTCCCCCAGTGAACGTGAGCTGCAACATTTTCATCAACAGCTTTGGTTCCATTGCT    c.240
 K  G |   P  P  V  N  V  S  C  N  I  F  I  N  S  F  G  S  I  A      p.80

          .   | 04     .         .         .         .         .    g.69876
 GAGACAACCATG | GACTATAGGGTCAACATCTTCCTGCGGCAGCAATGGAACGACCCCCGC    c.300
 E  T  T  M   | D  Y  R  V  N  I  F  L  R  Q  Q  W  N  D  P  R      p.100

          .         .         .         .         .         .       g.69936
 CTGGCCTATAATGAATACCCTGACGACTCTCTGGACCTGGACCCATCCATGCTGGACTCC       c.360
 L  A  Y  N  E  Y  P  D  D  S  L  D  L  D  P  S  M  L  D  S         p.120

          .         .         .         .         .         .       g.69996
 ATCTGGAAACCTGACCTGTTCTTTGCCAACGAGAAGGGGGCCCACTTCCATGAGATCACC       c.420
 I  W  K  P  D  L  F  F  A  N  E  K  G  A  H  F  H  E  I  T         p.140

          .         .         .         .         .       | 05 .    g.73457
 ACAGACAACAAATTGCTAAGGATCTCCCGGAATGGGAATGTCCTCTACAGCATCAG | AATC    c.480
 T  D  N  K  L  L  R  I  S  R  N  G  N  V  L  Y  S  I  R  |  I      p.160

          .         .         .         .         .         .       g.73517
 ACCCTGACACTGGCCTGCCCCATGGACTTGAAGAATTTCCCCATGGATGTCCAGACATGT       c.540
 T  L  T  L  A  C  P  M  D  L  K  N  F  P  M  D  V  Q  T  C         p.180

          .          | 06        .         .         .         .    g.74700
 ATCATGCAACTGGAAAGCT | TTGGATATACGATGAATGACCTCATCTTTGAGTGGCAGGAA    c.600
 I  M  Q  L  E  S  F |   G  Y  T  M  N  D  L  I  F  E  W  Q  E      p.200

          .         .         .         .         .         .       g.74760
 CAGGGAGCCGTGCAGGTAGCAGATGGACTAACTCTGCCCCAGTTTATCTTGAAGGAAGAG       c.660
 Q  G  A  V  Q  V  A  D  G  L  T  L  P  Q  F  I  L  K  E  E         p.220

          .         .         .        | 07.         .         .    g.78255
 AAGGACTTGAGATACTGCACCAAGCACTACAACACAG | GTAAATTCACCTGCATTGAGGCC    c.720
 K  D  L  R  Y  C  T  K  H  Y  N  T  G |   K  F  T  C  I  E  A      p.240

          .         .         .         .         .         .       g.78315
 CGGTTCCACCTGGAGCGGCAGATGGGTTACTACCTGATTCAGATGTATATTCCCAGCCTG       c.780
 R  F  H  L  E  R  Q  M  G  Y  Y  L  I  Q  M  Y  I  P  S  L         p.260

          .         .         .         .         .         .       g.78375
 CTCATTGTCATCCTCTCATGGATCTCCTTCTGGATCAACATGGATGCTGCACCTGCTCGT       c.840
 L  I  V  I  L  S  W  I  S  F  W  I  N  M  D  A  A  P  A  R         p.280

          .         .         .         .         .         .       g.78435
 GTGGGCCTAGGCATCACCACTGTGCTCACCATGACCACCCAGAGCTCCGGCTCTCGAGCA       c.900
 V  G  L  G  I  T  T  V  L  T  M  T  T  Q  S  S  G  S  R  A         p.300

          .   | 08     .         .         .         .         .    g.100817
 TCTCTGCCCAAG | GTGTCCTATGTGAAAGCCATTGACATTTGGATGGCAGTTTGCCTGCTC    c.960
 S  L  P  K   | V  S  Y  V  K  A  I  D  I  W  M  A  V  C  L  L      p.320

          .         .         .         .         .         .       g.100877
 TTTGTGTTCTCAGCCCTATTAGAATATGCTGCCGTTAACTTTGTGTCTCGGCAACATAAG       c.1020
 F  V  F  S  A  L  L  E  Y  A  A  V  N  F  V  S  R  Q  H  K         p.340

          .         .         .          | 09        .         .    g.106870
 GAGCTGCTCCGATTCAGGAGGAAGCGGAGACATCACAAG | AGCCCCATGTTGAATCTATTC    c.1080
 E  L  L  R  F  R  R  K  R  R  H  H  K   | S  P  M  L  N  L  F      p.360

          .         .         .         .         .         .       g.106930
 CAGGAGGATGAAGCTGGAGAAGGCCGCTTTAACTTCTCTGCCTATGGGATGGGCCCAGCC       c.1140
 Q  E  D  E  A  G  E  G  R  F  N  F  S  A  Y  G  M  G  P  A         p.380

          .         .         .         .         .         .       g.106990
 TGTCTACAGGCCAAGGATGGCATCTCAGTCAAGGGCGCCAACAACAGTAACACCACCAAC       c.1200
 C  L  Q  A  K  D  G  I  S  V  K  G  A  N  N  S  N  T  T  N         p.400

          .         .         .         .         .         .       g.107050
 CCCCCTCCTGCACCATCTAAGTCCCCAGAGGAGATGCGAAAACTCTTCATCCAGAGGGCC       c.1260
 P  P  P  A  P  S  K  S  P  E  E  M  R  K  L  F  I  Q  R  A         p.420

          .         .         .         .         .         .       g.107110
 AAGAAGATCGACAAAATATCCCGCATTGGCTTCCCCATGGCCTTCCTCATTTTCAACATG       c.1320
 K  K  I  D  K  I  S  R  I  G  F  P  M  A  F  L  I  F  N  M         p.440

          .         .         .         .         .                 g.107164
 TTCTACTGGATCATCTACAAGATTGTCCGTAGAGAGGACGTCCACAACCAGTGA             c.1374
 F  Y  W  I  I  Y  K  I  V  R  R  E  D  V  H  N  Q  X               p.457

          .         .         .         .         .         .       g.107224
 agggtctgaaaggttgggggaggctgggagaggggaacgtgggaatagcacaggaatctg       c.*60

          .         .         .         .         .         .       g.107284
 agagactaaggaagagaaggggaacggagggagggggcacacttacacaactctctctgc       c.*120

          .         .         .         .                           g.107324
 aatatgtgcaatagcaaaatgcagtgatgcatgaatttta                           c.*160

 (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 Glycine receptor, alpha 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.