alpha-1-B glycoprotein (A1BG) - coding DNA reference sequence

(used for variant description)

(last modified June 18, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_130786.3 in the A1BG gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering A1BG transcript NM_130786.3.

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

 (upstream sequence)
                                                                    g.5002
                                                           gg       c.-61

 .         .         .         .         .         .                g.5062
 gcctcattgctgcagacgctcaccccagacactcactgcaccggagtgagcgcgaccatc       c.-1

          .         .         .     | 02   .         .         .    g.5198
 ATGTCCATGCTCGTGGTCTTTCTCTTGCTGTGGG | GTGTCACCTGGGGCCCAGTGACAGAA    c.60
 M  S  M  L  V  V  F  L  L  L  W  G |   V  T  W  G  P  V  T  E      p.20

          . | 03       .         .         .         .         .    g.5352
 GCAGCCATAT | TTTATGAGACGCAGCCCAGCCTGTGGGCAGAGTCCGAATCACTGCTGAAA    c.120
 A  A  I  F |   Y  E  T  Q  P  S  L  W  A  E  S  E  S  L  L  K      p.40

          .         .         .         .         .         .       g.5412
 CCCTTGGCCAATGTGACGCTGACGTGCCAGGCCCACCTGGAGACTCCAGACTTCCAGCTG       c.180
 P  L  A  N  V  T  L  T  C  Q  A  H  L  E  T  P  D  F  Q  L         p.60

          .         .         .         .         .         .       g.5472
 TTCAAGAATGGGGTGGCCCAGGAGCCTGTGCACCTTGACTCACCTGCCATCAAGCACCAG       c.240
 F  K  N  G  V  A  Q  E  P  V  H  L  D  S  P  A  I  K  H  Q         p.80

          .         .         .         .         .         .       g.5532
 TTCCTGCTGACGGGTGACACCCAGGGCCGCTACCGCTGCCGCTCGGGCTTGTCCACAGGA       c.300
 F  L  L  T  G  D  T  Q  G  R  Y  R  C  R  S  G  L  S  T  G         p.100

          .         .         .         . | 04       .         .    g.5964
 TGGACCCAGCTGAGCAAGCTCCTGGAGCTGACAGGGCCAA | AGTCCTTGCCTGCTCCCTGG    c.360
 W  T  Q  L  S  K  L  L  E  L  T  G  P  K |   S  L  P  A  P  W      p.120

          .         .         .         .         .         .       g.6024
 CTCTCGATGGCGCCAGTGTCCTGGATCACCCCCGGCCTGAAAACAACAGCAGTGTGCCGA       c.420
 L  S  M  A  P  V  S  W  I  T  P  G  L  K  T  T  A  V  C  R         p.140

          .         .         .         .         .         .       g.6084
 GGTGTGCTGCGGGGTGTGACTTTTCTGCTGAGGCGGGAGGGCGACCATGAGTTTCTGGAG       c.480
 G  V  L  R  G  V  T  F  L  L  R  R  E  G  D  H  E  F  L  E         p.160

          .         .         .         .         .         .       g.6144
 GTGCCTGAGGCCCAGGAGGATGTGGAGGCCACCTTTCCAGTCCATCAGCCTGGCAACTAC       c.540
 V  P  E  A  Q  E  D  V  E  A  T  F  P  V  H  Q  P  G  N  Y         p.180

          .         .         .         .         .         .       g.6204
 AGCTGCAGCTACCGGACCGATGGGGAAGGCGCCCTCTCTGAGCCCAGCGCTACTGTGACC       c.600
 S  C  S  Y  R  T  D  G  E  G  A  L  S  E  P  S  A  T  V  T         p.200

          .    | 05    .         .         .         .         .    g.6859
 ATTGAGGAGCTCG | CTGCACCACCACCGCCTGTGCTGATGCACCATGGAGAGTCCTCCCAG    c.660
 I  E  E  L  A |   A  P  P  P  P  V  L  M  H  H  G  E  S  S  Q      p.220

          .         .         .         .         .         .       g.6919
 GTCCTGCACCCTGGCAACAAGGTGACCCTCACCTGCGTGGCTCCCCTGAGTGGAGTGGAC       c.720
 V  L  H  P  G  N  K  V  T  L  T  C  V  A  P  L  S  G  V  D         p.240

          .         .         .         .         .         .       g.6979
 TTCCAGCTACGGCGCGGGGAGAAAGAGCTGCTGGTACCCAGGAGCAGCACCAGCCCAGAT       c.780
 F  Q  L  R  R  G  E  K  E  L  L  V  P  R  S  S  T  S  P  D         p.260

          .         .         .         .         .         .       g.7039
 CGCATCTTCTTTCACCTGAACGCGGTGGCCCTGGGGGATGGAGGTCACTACACCTGCCGC       c.840
 R  I  F  F  H  L  N  A  V  A  L  G  D  G  G  H  Y  T  C  R         p.280

          .         .         .         .         .         .       g.7099
 TACCGGCTGCATGACAACCAAAACGGCTGGTCCGGGGACAGCGCGCCGGTCGAGCTGATT       c.900
 Y  R  L  H  D  N  Q  N  G  W  S  G  D  S  A  P  V  E  L  I         p.300

          . | 06       .         .         .         .         .    g.7898
 CTGAGCGATG | AGACGCTGCCCGCGCCGGAGTTCTCCCCGGAGCCGGAGTCCGGCAGGGCC    c.960
 L  S  D  E |   T  L  P  A  P  E  F  S  P  E  P  E  S  G  R  A      p.320

          .         .         .         .         .         .       g.7958
 TTGCGGCTGCGGTGCCTGGCGCCCCTGGAGGGCGCGCGCTTCGCCCTGGTGCGCGAGGAC       c.1020
 L  R  L  R  C  L  A  P  L  E  G  A  R  F  A  L  V  R  E  D         p.340

          .         .         .         .         .         .       g.8018
 AGGGGCGGGCGCCGCGTGCACCGTTTCCAGAGCCCCGCTGGGACCGAGGCGCTCTTCGAG       c.1080
 R  G  G  R  R  V  H  R  F  Q  S  P  A  G  T  E  A  L  F  E         p.360

          .         .         .         .         .         .       g.8078
 CTGCACAACATTTCCGTGGCTGACTCCGCCAACTACAGCTGCGTCTACGTGGACCTGAAG       c.1140
 L  H  N  I  S  V  A  D  S  A  N  Y  S  C  V  Y  V  D  L  K         p.380

          .         .         .         .         .   | 07     .    g.10867
 CCGCCTTTCGGGGGCTCCGCGCCCAGCGAGCGCTTGGAGCTGCACGTGGACG | GACCCCCT    c.1200
 P  P  F  G  G  S  A  P  S  E  R  L  E  L  H  V  D  G |   P  P      p.400

          .         .         .         .         .         .       g.10927
 CCCAGGCCTCAGCTCCGGGCGACGTGGAGTGGGGCGGTCCTGGCGGGCCGAGATGCCGTC       c.1260
 P  R  P  Q  L  R  A  T  W  S  G  A  V  L  A  G  R  D  A  V         p.420

          .         .         .         .         .         .       g.10987
 CTGCGCTGCGAGGGACCCATCCCCGACGTCACCTTCGAGCTGCTGCGCGAGGGCGAGACG       c.1320
 L  R  C  E  G  P  I  P  D  V  T  F  E  L  L  R  E  G  E  T         p.440

          .         .         .         .         .         .       g.11047
 AAGGCCGTGAAGACGGTCCGCACCCCCGGGGCCGCGGCGAACCTCGAGCTGATCTTCGTG       c.1380
 K  A  V  K  T  V  R  T  P  G  A  A  A  N  L  E  L  I  F  V         p.460

          .         .         .         .         .         .       g.11107
 GGGCCCCAGCACGCCGGCAACTACAGGTGCCGCTACCGCTCCTGGGTGCCCCACACCTTC       c.1440
 G  P  Q  H  A  G  N  Y  R  C  R  Y  R  S  W  V  P  H  T  F         p.480

          .         .         .         . | 08                      g.11490
 GAATCGGAGCTCAGCGACCCTGTGGAGCTCCTGGTGGCAG | AAAGCTGA                c.1488
 E  S  E  L  S  D  P  V  E  L  L  V  A  E |   S  X                  p.495

          .         .         .         .         .         .       g.11550
 tgcagccgcgggcccagggtgctgttggtgtcctcagaagtgccggggattctggactgg       c.*60

          .         .         .         .         .         .       g.11610
 ctccctcccctcctgttgcagcacaaggccggggtctctggggggctggagaagcctccc       c.*120

          .         .         .         .         .         .       g.11670
 tcattcctcccaggaattaataaatgtgaagagaggctctgtttaaaatgtctttggact       c.*180

          .         .         .                                     g.11706
 cccagggctgagtgggctgggatctcgtgtcctcaa                               c.*216

 (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 Alpha-1-B glycoprotein 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.