non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) - coding DNA reference sequence

(used for variant description)

(last modified March 2, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_144599.4 in the NIPA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009056.1, covering NIPA1 transcript NM_144599.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5432
                                    ggctcggagggcgggcgcgggcgga       c.-1

          .         .         .         .         .         .       g.5492
 ATGGGGACTGCAGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGGAGGGGGCG       c.60
 M  G  T  A  A  A  A  A  A  A  A  A  A  A  A  A  G  E  G  A         p.20

          .         .         .         .         .         .       g.5552
 CGTAGCCCGAGCCCCGCCGCCGTGTCGCTCGGCCTGGGCGTGGCCGTCGTGTCGAGCCTG       c.120
 R  S  P  S  P  A  A  V  S  L  G  L  G  V  A  V  V  S  S  L         p.40

          .         .         .         .         .         | 02    g.29526
 GTGAACGGGTCCACGTTCGTGCTACAGAAGAAGGGCATCGTGCGTGCCAAGCGGCGAG | GT    c.180
 V  N  G  S  T  F  V  L  Q  K  K  G  I  V  R  A  K  R  R  G |       p.60

          .         .         .         .       | 03 .         .    g.30952
 ACTTCCTATTTAACAGACATTGTGTGGTGGGCTGGCACAATCGCAA | TGGCTGTTGGCCAG    c.240
 T  S  Y  L  T  D  I  V  W  W  A  G  T  I  A  M |   A  V  G  Q      p.80

          .         .         .         .         .         .       g.31012
 ATTGGAAACTTCCTGGCTTACACGGCGGTCCCCACGGTCCTGGTAACCCCCCTGGGCGCC       c.300
 I  G  N  F  L  A  Y  T  A  V  P  T  V  L  V  T  P  L  G  A         p.100

          .        | 04.         .         .         .         .    g.39131
 CTTGGAGTACCGTTCGG | GTCCATTTTAGCTTCCTATCTCCTGAAGGAAAAGCTCAACATC    c.360
 L  G  V  P  F  G  |  S  I  L  A  S  Y  L  L  K  E  K  L  N  I      p.120

          .         .         .         .         .         .       g.39191
 TTGGGCAAGTTGGGGTGCCTGCTAAGCTGTGCAGGCTCCGTCGTGCTGATTATCCACTCC       c.420
 L  G  K  L  G  C  L  L  S  C  A  G  S  V  V  L  I  I  H  S         p.140

          .         .         .         .         .         | 05    g.42505
 CCAAAGTCTGAGAGTGTGACAACTCAGGCTGAGCTGGAGGAAAAGCTGACCAATCCAG | TG    c.480
 P  K  S  E  S  V  T  T  Q  A  E  L  E  E  K  L  T  N  P  V |       p.160

          .         .         .         .         .         .       g.42565
 TTTGTGGGCTACCTGTGCATCGTGCTGCTCATGCTGCTGCTGCTCATCTTCTGGATCGCG       c.540
 F  V  G  Y  L  C  I  V  L  L  M  L  L  L  L  I  F  W  I  A         p.180

          .         .         .         .         .         .       g.42625
 CCGGCCCATGGGCCCACCAACATCATGGTCTACATCAGCATCTGCTCCTTGCTGGGCAGT       c.600
 P  A  H  G  P  T  N  I  M  V  Y  I  S  I  C  S  L  L  G  S         p.200

          .         .         .         .         .         .       g.42685
 TTCACCGTGCCTTCCACCAAGGGCATCGGGCTGGCGGCCCAAGACATCTTGCATAACAAC       c.660
 F  T  V  P  S  T  K  G  I  G  L  A  A  Q  D  I  L  H  N  N         p.220

          .         .         .         .         .         .       g.42745
 CCGTCCAGTCAGAGAGCCCTCTGCCTGTGCCTGGTACTCCTGGCCGTGCTCGGCTGCAGC       c.720
 P  S  S  Q  R  A  L  C  L  C  L  V  L  L  A  V  L  G  C  S         p.240

          .         .         .         .         .         .       g.42805
 ATCATCGTCCAGTTCAGGTACATCAACAAGGCGCTGGAGTGCTTCGACTCCTCGGTGTTC       c.780
 I  I  V  Q  F  R  Y  I  N  K  A  L  E  C  F  D  S  S  V  F         p.260

          .         .         .         .         .         .       g.42865
 GGGGCCATCTACTACGTCGTGTTTACCACGCTGGTCCTGCTGGCCTCAGCCATCCTCTTC       c.840
 G  A  I  Y  Y  V  V  F  T  T  L  V  L  L  A  S  A  I  L  F         p.280

          .         .         .         .         .         .       g.42925
 CGGGAGTGGAGCAACGTGGGCCTGGTGGACTTCTTGGGGATGGCCTGTGGATTCACGACC       c.900
 R  E  W  S  N  V  G  L  V  D  F  L  G  M  A  C  G  F  T  T         p.300

          .         .         .         .         .         .       g.42985
 GTCTCCGTGGGGATTGTCCTTATACAGGTGTTCAAAGAGTTCAATTTCAACCTTGGGGAG       c.960
 V  S  V  G  I  V  L  I  Q  V  F  K  E  F  N  F  N  L  G  E         p.320

          .         .         .                                     g.43015
 ATGAACAAATCTAATATGAAAACAGACTAG                                     c.990
 M  N  K  S  N  M  K  T  D  X                                       p.329

          .         .         .         .         .         .       g.43075
 attgcaataggagcttggatggttcgaggaataggcattggaggtggtttctggccgtga       c.*60

          .         .         .         .         .         .       g.43135
 ttggatgtgaagtagaagaggtcctcgatcatggtgttagaattgactggatagtaacag       c.*120

          .         .         .         .         .         .       g.43195
 gtggtctggtggatagcggggagcatggctcagcaccagagcagaggcccagccagccct       c.*180

          .         .         .         .         .         .       g.43255
 ctgcagcccaaacgtccccaacggttgcctggcaccatctctctctgatgagacgaatct       c.*240

          .         .         .         .         .         .       g.43315
 cattttcatttccattaacctggaagctttcatgaatattctcttcttttaaaacatttt       c.*300

          .         .         .         .         .         .       g.43375
 aacattatttaaacagaaaaagatgggctctttctggttagttgttacatgatagcagag       c.*360

          .         .         .         .         .         .       g.43435
 atatttttacttagattactttgggaatgagagattgttgtcttgaactctggcactgta       c.*420

          .         .         .         .         .         .       g.43495
 cagtgaatgtgtctgtagttgtgttagtttgcattaagcatgtataacattcaagtatgt       c.*480

          .         .         .         .         .         .       g.43555
 catccaaataagaggcatatacattgaattgtttttaatcctctgacaagttgactcttc       c.*540

          .         .         .         .         .         .       g.43615
 gacccccacccccacccaagacattttaatagtaaatagagagagagagaagagttaatg       c.*600

          .         .         .         .         .         .       g.43675
 aacatgaggtagtgttccactggcaggatgacttttcaatagctcaaatcaatttcagtg       c.*660

          .         .         .         .         .         .       g.43735
 cctttatcacttgaattattaacttaatttgactcttaatgtgtatatgttcttagatta       c.*720

          .         .         .         .         .         .       g.43795
 gaataatgcaacttcgagtatgctttaatatttcaatattcaagttacaaatgtataagg       c.*780

          .         .         .         .         .         .       g.43855
 cagttagaaataatacagtcacatgtcacttaatgatagggaaacattctgagaaatgca       c.*840

          .         .         .         .         .         .       g.43915
 ttgtaaggtgactttattgtgtgaacatcatggagtgcacttatacaaacctagatggga       c.*900

          .         .         .         .         .         .       g.43975
 cacctatgacccacccaggccagatggtacagcctgttgctcctgggccacacacctgta       c.*960

          .         .         .         .         .         .       g.44035
 cagcatgtgaccgcactgaataccgcaggcaattgtaacacagtggtgagtatttgtgtt       c.*1020

          .         .         .         .         .         .       g.44095
 tacaaacataggaaaggtacagtaaaactatggtattacaatgttatgggaccaccgtca       c.*1080

          .         .         .         .         .         .       g.44155
 tgtaagtggtatgtctttgacagaaacatggttacgtggttcatgactgtatattcactg       c.*1140

          .         .         .         .         .         .       g.44215
 gaagatagtcaagactaaagacacattagagcaaattgacccctttaacatgtgattatt       c.*1200

          .         .         .         .         .         .       g.44275
 gtccaattaaagacagttgatttaagtagcatgaggtattattttatttgtattcgatct       c.*1260

          .         .         .         .         .         .       g.44335
 gtgttacctgggatccagtatcaaatatatccacattctttatcagcaagcattcatggc       c.*1320

          .         .         .         .         .         .       g.44395
 cattcagaagaaataaattaggtaacttgataataaggctaagtgggagagtacctgttc       c.*1380

          .         .         .         .         .         .       g.44455
 aatagctcatatatcgagtaccctgtcatacaggaacaagttaaaggacacaattgaggt       c.*1440

          .         .         .         .         .         .       g.44515
 taggctagcttctacaaattgcaatatgcagtttttgaaagattttctaacaaaaagcca       c.*1500

          .         .         .         .         .         .       g.44575
 ataaatgtagccatctccttgttgtttgcaatggcagagcatcctagagttcctcagcta       c.*1560

          .         .         .         .         .         .       g.44635
 acctctcattatgtgtcttaaatgcaaaagagccattaattatgccagtatttgaatcaa       c.*1620

          .         .         .         .         .         .       g.44695
 agaggtcattctctgtctatagtgttcccatccatgtgttccaaatgggagcatagcatg       c.*1680

          .         .         .         .         .         .       g.44755
 aagtgatgcacatatttcaccacggtatcatgtacttcatggccagtgttttatctcagc       c.*1740

          .         .         .         .         .         .       g.44815
 agggaactacgccaagttgaaagatggggttgggtaaagtagattaggtgaagtagaaca       c.*1800

          .         .         .         .         .         .       g.44875
 taaaattgaatagtacccaattaaagttcctcagtaagaaaaaaaatgtgtttttgtagg       c.*1860

          .         .         .         .         .         .       g.44935
 caaaaagaacatttctaaagtctcaaggaatagcttcctaaagtgttgagtaaagaggct       c.*1920

          .         .         .         .         .         .       g.44995
 aaataaaatgagactagtttaatatagagagaaaaatacctttatggagtaaacgtgtac       c.*1980

          .         .         .         .         .         .       g.45055
 atgatgatcatgggttgtcagtgatttgtgaactgagagcagcaacaacattatttttta       c.*2040

          .         .         .         .         .         .       g.45115
 aaaatcttaaatcctctcaatggatggttaacaaatgctcaaagtccattactcttttta       c.*2100

          .         .         .         .         .         .       g.45175
 ttggctcttgcaggttttgtgttttatcatcagtgcttttagaaatgcaggccttaactt       c.*2160

          .         .         .         .         .         .       g.45235
 actgaactgaactttctgaaaacgtaatgtagcagtatcaatatacttttgggcataaaa       c.*2220

          .         .         .         .         .         .       g.45295
 atagtttcctaggtaaggggtgtgagatattcaaagaatacatgtggctaacaagtgtaa       c.*2280

          .         .         .         .         .         .       g.45355
 tgagaaagttcatgtgtcacatgaaaatgatcatgtttgtgttgctacagcttttgtggg       c.*2340

          .         .         .         .         .         .       g.45415
 aaatttagtttaaaggcagctcttggtgtaccttagtatattttaatccacaattatacc       c.*2400

          .         .         .         .         .         .       g.45475
 attgatactgagaggtgatacccgatgatcttctctataatattcttagagtaaaacaaa       c.*2460

          .         .         .         .         .         .       g.45535
 atctcaaaagtattaatagctcttctacccttgaaggtgactggtcctgggacagttaga       c.*2520

          .         .         .         .         .         .       g.45595
 atctttcaggtttacctctgttcagcagatacttcagtaggatacatagcttttcttcca       c.*2580

          .         .         .         .         .         .       g.45655
 gtgaaacaaagttcatatcatccattgtttttcaagcacgtgacaccagcctcaaagtaa       c.*2640

          .         .         .         .         .         .       g.45715
 atgacatgaccagtggttgaacagtctaattttcaaatttaatatagagcatataacttc       c.*2700

          .         .         .         .         .         .       g.45775
 tgatttgatagtatttattttaaaaaattatgttttcatcattcatttgaaaatgaaaaa       c.*2760

          .         .         .         .         .         .       g.45835
 gccccaaagtgagaactttgggggagggcctagaacatggatagatctcttagtggtctt       c.*2820

          .         .         .         .         .         .       g.45895
 tccaaaagtacatgtacttgaaatattttcattatcatactattctttgaaaaaaaagat       c.*2880

          .         .         .         .         .         .       g.45955
 gcttactgtatacttgttttcaagcatcctctaaaatcaaaggttttgatcacaatatgc       c.*2940

          .         .         .         .         .         .       g.46015
 agatttctcttgatagatacttaaataggctatttctctcctcttcttgggcaatgcctt       c.*3000

          .         .         .         .         .         .       g.46075
 gttttctcctctgaatatttgcatttgaaaggattgcttcctgttctgctcattgatcaa       c.*3060

          .         .         .         .         .         .       g.46135
 aggtagggccaattaaggattctaaccctaacccagcaccacaaagcccccctggagcat       c.*3120

          .         .         .         .         .         .       g.46195
 cttcccggctggcaggaccatgccatctctgtggagaaggtgctggggagggaagtcctt       c.*3180

          .         .         .         .         .         .       g.46255
 ccagtgccacatggagtgaggccctgcccatgctggggactttggggaggaatttggtat       c.*3240

          .         .         .         .         .         .       g.46315
 tctggtggccttgctcagctctcattgagatcttttcctatcagaatgttagtgaatata       c.*3300

          .         .         .         .         .         .       g.46375
 cttcgcagctctttgttcagcaataaggaatattctttcaattcctgctcttcaagccaa       c.*3360

          .         .         .         .         .         .       g.46435
 tttactacacccagttgtctttccagaagttcatcccagcggtaatatgttggtgtttgt       c.*3420

          .         .         .         .         .         .       g.46495
 tcttctttggatttcacatctgttttctggtagaagtgagcactgttcacttgtgcagtc       c.*3480

          .         .         .         .         .         .       g.46555
 gtcttattttccttcttcctagatgactcagctctttgtaaatgttgtgctcaacttcta       c.*3540

          .         .         .         .         .         .       g.46615
 ggggccagttctagactttggagatgcagtgtctcccaggtgtgcacggacacctggtcc       c.*3600

          .         .         .         .         .         .       g.46675
 gtggaaacaggtgtgatgggcacaggctgctgcccttctgtctggtcgggggattcctct       c.*3660

          .         .         .         .         .         .       g.46735
 tcttcaagctgctcagctaacccagaagaggggagagagtactccggtggttcccagagc       c.*3720

          .         .         .         .         .         .       g.46795
 ccctcccgttgtgccgcttcgacctgacacctgctcgatgctgacttaggcttcctgcca       c.*3780

          .         .         .         .         .         .       g.46855
 ccaagcaggaaactagaaagagaacatttcagtgtaaggtctgttcccgacagcatggat       c.*3840

          .         .         .         .         .         .       g.46915
 tagcttccgtgttctgaagttgttcttttcatggtgtctgacaccgagggcgttgttcgt       c.*3900

          .         .         .         .         .         .       g.46975
 ccatcaggcgggattggatggagtcttggtgttttgccttctcagggaccaaaaatgtat       c.*3960

          .         .         .         .         .         .       g.47035
 cattgactccttaacagtgaccttcctcccaaggacatatccgtgttcatttttcatagg       c.*4020

          .         .         .         .         .         .       g.47095
 ttttactcatattcataggtagattctgttaatgtgagttggaaagaaaagaccaatttg       c.*4080

          .         .         .         .         .         .       g.47155
 tacaccagtcacaccacaagacagtttatcatataaaatacctcaattttttgtattcct       c.*4140

          .         .         .         .         .         .       g.47215
 catttccacctcacaattgtactggtgatgaattttaagggtctgtcctttagcttatag       c.*4200

          .         .         .         .         .         .       g.47275
 gtgatgtttcacatctggccagattcttatacctccattgtatacttgaaaaggttcaga       c.*4260

          .         .         .         .         .         .       g.47335
 attacaggaacagcagtgagaatttggcccactaccacgactcatttgtttcattcacat       c.*4320

          .         .         .         .         .         .       g.47395
 tcctcacgtgcaacaacataattatattttaagaaaatgtaactttgttacatcaaaata       c.*4380

          .         .         .         .         .         .       g.47455
 tgttgtctagtaaaaagttgatattcagtagaacaaggatcatgtaaataaacatctatt       c.*4440

          .         .         .         .         .         .       g.47515
 tcacatgtacccaaaagcatttaaaaagcagaatccagggcccagagcatgagccaggga       c.*4500

          .         .         .         .         .         .       g.47575
 ggaggatgtttttcttcttttctctatttttccctaaattgtgcaaacataggtgagtct       c.*4560

          .         .         .         .         .         .       g.47635
 cttaacctttctgtgcctcagtttttctacctctaaaggggtgggatggttcttcaaatt       c.*4620

          .         .         .         .         .         .       g.47695
 gtttctaaaacaccggcactttcagcagtgttctggtggcctgagatgagagcaccgtgt       c.*4680

          .         .         .         .         .         .       g.47755
 tcagaagtgcctgggagtggcacagtggaaactccgcttgcacggaccatggagtctgct       c.*4740

          .         .         .         .         .         .       g.47815
 caggaccatgctgtaggacacacagcctcatgcgctgagaaagcaaaggaagtgctgggt       c.*4800

          .         .         .         .         .         .       g.47875
 gtaaagtttgcatgattccatgaagctttagttttcctttttttgttttaaaagaaaggg       c.*4860

          .         .         .         .         .         .       g.47935
 ttttatatgttctattgtaaaatatggaaattaaacagggacttcagaaagccgcacaga       c.*4920

          .         .         .         .         .         .       g.47995
 aagatcaccttccgatggtgtgatgtgctcctgacattcggccgaggtctgtattctgaa       c.*4980

          .         .         .         .         .         .       g.48055
 aaagatttaatggcctgtgaaacacgtggattctgttgcactggatttgtaataaatgac       c.*5040

          .         .         .         .         .         .       g.48115
 gctgaacttcctgcttccaagcagctcaaccctgatgctgaactgacaccaggcgaatgt       c.*5100

          .         .         .         .         .         .       g.48175
 cagggctcccaaaccactagtgccaaagggtcatgttgaaaagttcagaatatttatttg       c.*5160

          .         .         .         .         .         .       g.48235
 tcagaatataataattgccccccaccttagtatttttgcactttacagaaatttagatac       c.*5220

          .         .         .         .         .         .       g.48295
 tgtttttcagtggcttgagcgttttgccttttcaaaggataactattattttcttgaaaa       c.*5280

          .         .         .         .         .         .       g.48355
 tggaatataatcatgagaggaagaagatgtaaaaaatgtcaaatgttgattggttgtgta       c.*5340

          .         .         .         .         .         .       g.48415
 aaagttttgtcatagacatgtattggggagcttccaattagcatacatagacacatgtgt       c.*5400

          .         .         .         .         .         .       g.48475
 cagtggccaagacctgcttatattttgctttatagatgtagtcatagcatgttgttattg       c.*5460

          .         .         .         .         .         .       g.48535
 cctcatgtaaataaaaaggctattaagttttccagtaatatttattaatctgtatgtgtt       c.*5520

          .         .         .                                     g.48565
 ttaaaataaaataacttatttctagctgaa                                     c.*5550

 (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 Non imprinted in Prader-Willi/Angelman syndrome 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.