actin-like 9 (ACTL9) - coding DNA reference sequence

(used for variant description)

(last modified March 8, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_178525.3 in the ACTL9 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering ACTL9 transcript NM_178525.3.

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

 (upstream sequence)
                                                                    g.5001
                                                            a       c.-121

 .         .         .         .         .         .                g.5061
 tagattgcgggcccacccctccccctgtctgcctgccctccccactggccgggcctcaac       c.-61

 .         .         .         .         .         .                g.5121
 ctcttctccccacaaccccaaccccagaggaaaagccccctcacctggcgtcccgcaacc       c.-1

          .         .         .         .         .         .       g.5181
 ATGGATGCAAGTCGCCCCAAGTCCTCGGAATCCCAGTCCTCCCTGGAGGCCCCCAGGCCC       c.60
 M  D  A  S  R  P  K  S  S  E  S  Q  S  S  L  E  A  P  R  P         p.20

          .         .         .         .         .         .       g.5241
 GGCCCAAACCCCAGTCCCAACGTGGTGAACAAGCCCCTGCAGCGGGACTTCCCCGGCATG       c.120
 G  P  N  P  S  P  N  V  V  N  K  P  L  Q  R  D  F  P  G  M         p.40

          .         .         .         .         .         .       g.5301
 GTGGCCGACAGGCTGCCACCAAAGACCGGCGTGGTGGTTATTGACATGGGCACAGGCACC       c.180
 V  A  D  R  L  P  P  K  T  G  V  V  V  I  D  M  G  T  G  T         p.60

          .         .         .         .         .         .       g.5361
 TGTAAGGTAGGTTTTGCTGGGCAGGCCAGCCCCACCTACACCGTGGCCACCATCCTGGGC       c.240
 C  K  V  G  F  A  G  Q  A  S  P  T  Y  T  V  A  T  I  L  G         p.80

          .         .         .         .         .         .       g.5421
 TGCCAGCCCAAGAAACCCGCCACCTCGGGGCAGTCCGGGCTGCAGACGTTCATCGGCGAG       c.300
 C  Q  P  K  K  P  A  T  S  G  Q  S  G  L  Q  T  F  I  G  E         p.100

          .         .         .         .         .         .       g.5481
 GCAGCCCGCGTGCTCCCAGAGCTGACGCTGGTGCAACCCCTGCGCAGCGGCATCGTCGTG       c.360
 A  A  R  V  L  P  E  L  T  L  V  Q  P  L  R  S  G  I  V  V         p.120

          .         .         .         .         .         .       g.5541
 GACTGGGATGCCGCCGAGCTCATCTGGCGCCACCTGCTGGAGCACGACCTCCGAGTGGCC       c.420
 D  W  D  A  A  E  L  I  W  R  H  L  L  E  H  D  L  R  V  A         p.140

          .         .         .         .         .         .       g.5601
 ACCCACGACCACCCGCTGCTGTTCTCCGACCCACCCTTCAGCCCGGCCACCAACCGCGAG       c.480
 T  H  D  H  P  L  L  F  S  D  P  P  F  S  P  A  T  N  R  E         p.160

          .         .         .         .         .         .       g.5661
 AAGCTAGTGGAGGTGGCCTTCGAGTCGCTGCGCTCCCCAGCCATGTACGTGGCATCGCAG       c.540
 K  L  V  E  V  A  F  E  S  L  R  S  P  A  M  Y  V  A  S  Q         p.180

          .         .         .         .         .         .       g.5721
 TCGGTGCTGTCTGTCTACGCCCACGGTCGTGTCAGCGGGCTGGTGGTGGACACGGGACAC       c.600
 S  V  L  S  V  Y  A  H  G  R  V  S  G  L  V  V  D  T  G  H         p.200

          .         .         .         .         .         .       g.5781
 GGGGTCACCTACACAGTGCCCGTCTTCCAGGGCTACAACCTGCTCCACGCCACGGAGCGT       c.660
 G  V  T  Y  T  V  P  V  F  Q  G  Y  N  L  L  H  A  T  E  R         p.220

          .         .         .         .         .         .       g.5841
 CTGGACCTGGCGGGCAACCACCTGACCGCCTTCCTGGCGGAGATGCTGCTCCAGGCCGGC       c.720
 L  D  L  A  G  N  H  L  T  A  F  L  A  E  M  L  L  Q  A  G         p.240

          .         .         .         .         .         .       g.5901
 CTGCCCCTGGGACAGCAGGACCTGGACCTAGTGGAGAACATTAAGCACCACTATTGCTAC       c.780
 L  P  L  G  Q  Q  D  L  D  L  V  E  N  I  K  H  H  Y  C  Y         p.260

          .         .         .         .         .         .       g.5961
 GTGGCCTCCGACTTCCAGAAGGAGCAGGCCCGGCCGGAGCAGGAGTACAAGCGGACTCTG       c.840
 V  A  S  D  F  Q  K  E  Q  A  R  P  E  Q  E  Y  K  R  T  L         p.280

          .         .         .         .         .         .       g.6021
 AAGCTGCCCGATGGGCGCACGGTCACCCTGGGCAAGGAGCTGTTCCAGTGTCCGGAGCTG       c.900
 K  L  P  D  G  R  T  V  T  L  G  K  E  L  F  Q  C  P  E  L         p.300

          .         .         .         .         .         .       g.6081
 CTGTTCAACCCCCCAGAGGTCCCGGGGCTGTCACCCGTCGGCCTCTCCACCATGGCCAAG       c.960
 L  F  N  P  P  E  V  P  G  L  S  P  V  G  L  S  T  M  A  K         p.320

          .         .         .         .         .         .       g.6141
 CAGAGTCTCCGCAAGTTGTCACTGGAGATGCGCGCGGACTTGGCCCAAAACGTGCTTCTC       c.1020
 Q  S  L  R  K  L  S  L  E  M  R  A  D  L  A  Q  N  V  L  L         p.340

          .         .         .         .         .         .       g.6201
 TGCGGTGGGTCCTCGCTCTTCACCGGCTTCGAGGGTCGCTTCCGGGCAGAGCTGCTGCGC       c.1080
 C  G  G  S  S  L  F  T  G  F  E  G  R  F  R  A  E  L  L  R         p.360

          .         .         .         .         .         .       g.6261
 GCTCTGCCAGCCGAGACCCACGTGGTGGTGGCTGCCCAGCCCACCAGGAATTTCTCCGTA       c.1140
 A  L  P  A  E  T  H  V  V  V  A  A  Q  P  T  R  N  F  S  V         p.380

          .         .         .         .         .         .       g.6321
 TGGATCGGGGGCTCCATCCTGGCCTCCCTGCGCGCCTTCCAGTCCTGCTGGGTCCTGCGG       c.1200
 W  I  G  G  S  I  L  A  S  L  R  A  F  Q  S  C  W  V  L  R         p.400

          .         .         .         .         .                 g.6372
 GAGCAGTACGAGGAACAGGGTCCCTATATCGTGTACCGCAAATGCTACTGA                c.1251
 E  Q  Y  E  E  Q  G  P  Y  I  V  Y  R  K  C  Y  X                  p.416

          .         .         .         .         .                 g.6422
 ccagggcagagctggggagggcgtgggggcagtaaagcctctgctacagc                 c.*50

 (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 Actin-like 9 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.