xylosyltransferase I (XYLT1) - coding DNA reference sequence

(used for variant description)

(last modified June 3, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_022166.3 in the XYLT1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering XYLT1 transcript NM_022166.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5025
                                    gcggccgcgggagctgcggggagcg       c.-61

 .         .         .         .         .         .                g.5085
 cgggggcggcccggagcgtgccggggtccccgcgcctcgctcgccggccgcgctccgaag       c.-1

          .         .         .         .         .         .       g.5145
 ATGGTGGCGGCGCCGTGCGCCCGGAGGCTGGCCCGGCGCTCGCACTCGGCGCTGCTCGCG       c.60
 M  V  A  A  P  C  A  R  R  L  A  R  R  S  H  S  A  L  L  A         p.20

          .         .         .         .         .         .       g.5205
 GCGCTCACGGTGCTGCTGCTGCAGACGCTGGTCGTGTGGAATTTCAGCAGCCTCGACTCC       c.120
 A  L  T  V  L  L  L  Q  T  L  V  V  W  N  F  S  S  L  D  S         p.40

          .         .         .         .         .         .       g.5265
 GGGGCCGGGGAGCGCCGCGGGGGCGCAGCGGTCGGCGGCGGGGAGCAGCCGCCCCCGGCC       c.180
 G  A  G  E  R  R  G  G  A  A  V  G  G  G  E  Q  P  P  P  A         p.60

          .         .         .         .         .         .       g.5325
 CCGGCCCCGCGCCGGGAGCGCCGGGACCTGCCCGCCGAGCCGGCTGCAGCCCGAGGAGGA       c.240
 P  A  P  R  R  E  R  R  D  L  P  A  E  P  A  A  A  R  G  G         p.80

          .         .         .         .         .         .       g.5385
 GGAGGAGGCGGCGGCGGAGGAGGAGGAGGACGGGGGCCCCAGGCGCGGGCGCGGGGAGGC       c.300
 G  G  G  G  G  G  G  G  G  G  R  G  P  Q  A  R  A  R  G  G         p.100

          .         .         .         .         .         .       g.5445
 GGCCCCGGAGAACCGCGGGGACAGCAGCCGGCCAGCCGGGGGGCACTGCCCGCCCGGGCT       c.360
 G  P  G  E  P  R  G  Q  Q  P  A  S  R  G  A  L  P  A  R  A         p.120

     | 02    .         .         .         .   | 03     .         . g.216401
 CTG | GATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAG | GATGGCTACTTTTCTCAT c.420
 L   | D  P  H  P  S  P  L  I  T  L  E  T  Q   | D  G  Y  F  S  H   p.140

          .         .         .         .         .         .       g.216461
 CGGCCGAAAGAGAAAGTGCGAACAGACAGCAACAACGAGAACTCTGTCCCCAAAGACTTT       c.480
 R  P  K  E  K  V  R  T  D  S  N  N  E  N  S  V  P  K  D  F         p.160

          .         .         .         .         .         .       g.216521
 GAGAATGTCGACAACAGCAACTTCGCACCCAGGACTCAAAAGCAGAAGCACCAGCCTGAG       c.540
 E  N  V  D  N  S  N  F  A  P  R  T  Q  K  Q  K  H  Q  P  E         p.180

          .         .         .         .         .         .       g.216581
 TTGGCGAAGAAGCCACCGAGTAGACAGAAGGAGCTTTTGAAAAGGAAGCTGGAACAGCAG       c.600
 L  A  K  K  P  P  S  R  Q  K  E  L  L  K  R  K  L  E  Q  Q         p.200

          .         .         .         .         .         .       g.216641
 GAGAAAGGAAAAGGACATACATTCCCTGGGAAAGGCCCCGGTGAGGTGCTGCCTCCCGGG       c.660
 E  K  G  K  G  H  T  F  P  G  K  G  P  G  E  V  L  P  P  G         p.220

          .         .         .         .         .         .       g.216701
 GACAGAGCCGCAGCCAACAGCAGCCACGGGAAGGATGTGTCCAGACCGCCTCATGCCAGG       c.720
 D  R  A  A  A  N  S  S  H  G  K  D  V  S  R  P  P  H  A  R         p.240

          .         .         .         .         .         .       g.216761
 AAAACTGGGGGCAGCTCCCCCGAGACCAAGTATGACCAGCCCCCTAAGTGTGACATCTCA       c.780
 K  T  G  G  S  S  P  E  T  K  Y  D  Q  P  P  K  C  D  I  S         p.260

          .         .         .         .         .         .       g.216821
 GGCAAGGAGGCCATCTCTGCCCTGTCCCGTGCTAAGTCCAAGCACTGCCGCCAGGAGATT       c.840
 G  K  E  A  I  S  A  L  S  R  A  K  S  K  H  C  R  Q  E  I         p.280

          .         .         .         .         .         .       g.216881
 GGGGAGACTTACTGCCGCCACAAGTTAGGGCTGCTGATGCCTGAGAAGGTGACTCGGTTC       c.900
 G  E  T  Y  C  R  H  K  L  G  L  L  M  P  E  K  V  T  R  F         p.300

          .    | 04    .         .         .         .         .    g.275274
 TGCCCCCTCGAGG | GTAAAGCCAACAAGAACGTGCAGTGGGACGAGGACTCCGTGGAGTAC    c.960
 C  P  L  E  G |   K  A  N  K  N  V  Q  W  D  E  D  S  V  E  Y      p.320

          .         .         .         .         .         .       g.275334
 ATGCCAGCCAACCCGGTCAGAATCGCCTTTGTCCTGGTGGTCCACGGCCGTGCCTCTCGG       c.1020
 M  P  A  N  P  V  R  I  A  F  V  L  V  V  H  G  R  A  S  R         p.340

          .         .         .         .         .         .       g.275394
 CAGTTGCAGCGCATGTTCAAGGCCATCTACCACAAAGACCACTTCTACTACATCCACGTG       c.1080
 Q  L  Q  R  M  F  K  A  I  Y  H  K  D  H  F  Y  Y  I  H  V         p.360

        | 05 .         .         .         .         .         .    g.277521
 GACAAG | CGCTCTAATTACCTGCATCGGCAAGTGCTCCAGGTCTCCAGGCAGTACAGCAAT    c.1140
 D  K   | R  S  N  Y  L  H  R  Q  V  L  Q  V  S  R  Q  Y  S  N      p.380

          .         .         .         .         .         .       g.277581
 GTCCGCGTCACCCCCTGGAGAATGGCCACCATCTGGGGAGGAGCCAGCCTCCTGTCCACC       c.1200
 V  R  V  T  P  W  R  M  A  T  I  W  G  G  A  S  L  L  S  T         p.400

          .         .         .         .         .         .       g.277641
 TACCTGCAGAGCATGCGGGACCTCCTGGAGATGACCGACTGGCCCTGGGACTTCTTCATC       c.1260
 Y  L  Q  S  M  R  D  L  L  E  M  T  D  W  P  W  D  F  F  I         p.420

          .         .          | 06        .         .         .    g.317003
 AACCTGAGTGCGGCCGACTACCCCATCAG | GACAAATGACCAGTTGGTGGCGTTTCTCTCC    c.1320
 N  L  S  A  A  D  Y  P  I  R  |  T  N  D  Q  L  V  A  F  L  S      p.440

          .         .         .         .         . | 07       .    g.334522
 CGATACCGAGATATGAATTTCTTGAAGTCACACGGCCGGGACAATGCAAG | GTTCATTCGG    c.1380
 R  Y  R  D  M  N  F  L  K  S  H  G  R  D  N  A  R  |  F  I  R      p.460

          .         .         .         .         .         .       g.334582
 AAGCAGGGCCTGGATCGGCTCTTCCTGGAGTGCGACGCTCACATGTGGCGCCTGGGAGAT       c.1440
 K  Q  G  L  D  R  L  F  L  E  C  D  A  H  M  W  R  L  G  D         p.480

          .         .         .         .         .         .       g.334642
 CGGCGGATCCCAGAGGGCATTGCCGTGGATGGCGGTTCGGACTGGTTCCTGCTGAACCGG       c.1500
 R  R  I  P  E  G  I  A  V  D  G  G  S  D  W  F  L  L  N  R         p.500

          .         .         .         .         .         .       g.334702
 AGGTTTGTAGAATATGTGACCTTCTCCACAGACGATCTGGTGACCAAGATGAAACAGTTC       c.1560
 R  F  V  E  Y  V  T  F  S  T  D  D  L  V  T  K  M  K  Q  F         p.520

          .         .        | 08.         .         .         .    g.337383
 TACTCCTACACCCTGCTTCCTGCTGAG | TCCTTCTTCCATACGGTCCTGGAGAACAGCCCC    c.1620
 Y  S  Y  T  L  L  P  A  E   | S  F  F  H  T  V  L  E  N  S  P      p.540

          .         .         .         .         .         .       g.337443
 CACTGCGACACCATGGTGGACAACAACCTGCGCATCACCAACTGGAATCGCAAGCTGGGC       c.1680
 H  C  D  T  M  V  D  N  N  L  R  I  T  N  W  N  R  K  L  G         p.560

          .         .         .         .         .         .       g.337503
 TGCAAGTGCCAGTACAAGCACATCGTGGACTGGTGCGGCTGCTCCCCCAATGACTTCAAG       c.1740
 C  K  C  Q  Y  K  H  I  V  D  W  C  G  C  S  P  N  D  F  K         p.580

          .         .     | 09   .         .         .         .    g.341182
 CCGCAGGACTTCCACCGCTTCCAG | CAGACAGCCCGGCCTACCTTCTTTGCCCGCAAGTTT    c.1800
 P  Q  D  F  H  R  F  Q   | Q  T  A  R  P  T  F  F  A  R  K  F      p.600

          .         .         .         .         .         .       g.341242
 GAAGCCGTGGTGAATCAGGAAATCATTGGGCAGCTGGACTATTACCTGTACGGGAACTAC       c.1860
 E  A  V  V  N  Q  E  I  I  G  Q  L  D  Y  Y  L  Y  G  N  Y         p.620

          .         .         .         .         .         .       g.341302
 CCTGCAGGTACCCCGGGCCTGCGCTCCTACTGGGAGAATGTCTACGATGAGCCTGACGGC       c.1920
 P  A  G  T  P  G  L  R  S  Y  W  E  N  V  Y  D  E  P  D  G         p.640

          .         .         .         .         .         .       g.341362
 ATCCACAGCCTGAGCGACGTGACACTCACCTTGTACCACTCCTTTGCCCGCCTGGGTCTT       c.1980
 I  H  S  L  S  D  V  T  L  T  L  Y  H  S  F  A  R  L  G  L         p.660

          .         .         .         .        | 10.         .    g.348033
 CGACGGGCCGAGACGTCCCTGCACACGGATGGGGAGAACAGCTGCCG | ATACTACCCAATG    c.2040
 R  R  A  E  T  S  L  H  T  D  G  E  N  S  C  R  |  Y  Y  P  M      p.680

          .         .         .         .         .         .       g.348093
 GGCCACCCAGCATCTGTGCACCTCTACTTCCTTGCTGACCGCTTCCAGGGCTTTCTGATC       c.2100
 G  H  P  A  S  V  H  L  Y  F  L  A  D  R  F  Q  G  F  L  I         p.700

          .         .         .         .         .         .       g.348153
 AAGCATCATGCTACCAATCTGGCTGTGAGCAAACTAGAGACTCTGGAGACCTGGGTGATG       c.2160
 K  H  H  A  T  N  L  A  V  S  K  L  E  T  L  E  T  W  V  M         p.720

          .         .         .         .         .         .       g.348213
 CCGAAAAAAGTCTTCAAGATCGCAAGCCCACCCAGTGACTTTGGGAGGCTTCAGTTTTCC       c.2220
 P  K  K  V  F  K  I  A  S  P  P  S  D  F  G  R  L  Q  F  S         p.740

     | 11    .         .         .         .         .         .    g.357959
 GAG | GTCGGCACTGACTGGGATGCCAAGGAGAGGCTATTCCGCAACTTTGGGGGTCTTCTG    c.2280
 E   | V  G  T  D  W  D  A  K  E  R  L  F  R  N  F  G  G  L  L      p.760

          .         .         .         .         .         .       g.358019
 GGGCCCATGGATGAGCCGGTGGGTATGCAGAAGTGGGGGAAGGGACCTAATGTGACCGTG       c.2340
 G  P  M  D  E  P  V  G  M  Q  K  W  G  K  G  P  N  V  T  V         p.780

          .         .         .         .         .         .       g.358079
 ACCGTCATTTGGGTGGATCCCGTCAATGTCATCGCAGCCACCTACGACATCCTCATTGAG       c.2400
 T  V  I  W  V  D  P  V  N  V  I  A  A  T  Y  D  I  L  I  E         p.800

          .         .         .         .         .         .       g.358139
 TCCACTGCCGAATTCACACACTACAAGCCCCCTTTGAACTTGCCCCTGAGGCCTGGGGTC       c.2460
 S  T  A  E  F  T  H  Y  K  P  P  L  N  L  P  L  R  P  G  V         p.820

          .         .         .         .         .         .       g.358199
 TGGACAGTGAAAATTCTCCACCACTGGGTGCCAGTTGCAGAGACCAAATTCCTCGTTGCG       c.2520
 W  T  V  K  I  L  H  H  W  V  P  V  A  E  T  K  F  L  V  A         p.840

          .         .         .        | 12.         .         .    g.366887
 CCTCTGACCTTCTCGAACAGGCAGCCCATCAAACCTG | AGGAGGCACTGAAGCTGCACAAT    c.2580
 P  L  T  F  S  N  R  Q  P  I  K  P  E |   E  A  L  K  L  H  N      p.860

          .         .         .         .         .         .       g.366947
 GGGCCCCTCCGCAATGCCTACATGGAGCAGAGCTTCCAGAGCCTAAACCCCGTCCTCAGC       c.2640
 G  P  L  R  N  A  Y  M  E  Q  S  F  Q  S  L  N  P  V  L  S         p.880

          .         .         .         .         .         .       g.367007
 CTGCCCATCAACCCCGCCCAGGTGGAACAGGCACGGAGGAACGCAGCCTCCACGGGCACA       c.2700
 L  P  I  N  P  A  Q  V  E  Q  A  R  R  N  A  A  S  T  G  T         p.900

          .         .         .         .         .         .       g.367067
 GCGCTGGAGGGATGGCTGGACTCGTTGGTGGGCGGGATGTGGACTGCCATGGACATCTGT       c.2760
 A  L  E  G  W  L  D  S  L  V  G  G  M  W  T  A  M  D  I  C         p.920

          .         .         .         .         .         .       g.367127
 GCCACGGGCCCCACAGCCTGCCCGGTCATGCAGACCTGCAGCCAGACGGCCTGGAGCTCC       c.2820
 A  T  G  P  T  A  C  P  V  M  Q  T  C  S  Q  T  A  W  S  S         p.940

          .         .         .         .         .         .       g.367187
 TTCAGCCCTGACCCCAAGTCGGAGCTGGGGGCAGTCAAACCTGATGGCCGGCTCAGGTAG       c.2880
 F  S  P  D  P  K  S  E  L  G  A  V  K  P  D  G  R  L  R  X         p.959

          .         .         .         .         .         .       g.367247
 cactgggcacgaggagtgggccacagcaggatctcaacgggaaagcagccagaggggttg       c.*60

          .         .         .         .         .         .       g.367307
 tggggcctgaaccccggcctcccaccctgggggaggccctctgtgaatgggtctctcctg       c.*120

          .         .         .         .         .         .       g.367367
 gccatagaatgatggaaagggaaggtcagcaggtcaaagcaggatcagccaacaacctgc       c.*180

          .         .         .         .         .         .       g.367427
 ctttggcaagctgcgggtgggatggctcagtccctgcactgtgactgtctcacctcttct       c.*240

          .         .         .         .         .         .       g.367487
 ggttgatcctcaagtcctacaggttccttgtcttccccttccagtgacccacccctgacc       c.*300

          .         .         .         .         .         .       g.367547
 ccagacgtgtgattttcagacttttctttcgagcagcagaacttcgtttacggagcacag       c.*360

          .         .         .         .         .         .       g.367607
 tcataagtggaggttcagggtgctgacgaaatccaagctgctctggttgaagctgacaag       c.*420

          .         .         .         .         .         .       g.367667
 tgcgaggttccctcccaaagctcagccctctgggcggtccccttgcccagggtatctcct       c.*480

          .         .         .         .         .         .       g.367727
 acggtacctcttcagaacccaagggctctgcaaatgccagtttgacaagcactgcccaga       c.*540

          .         .         .         .         .         .       g.367787
 ccaaccatgggttcaaactccagccctgccctttggttcatttttctgcttctcttggct       c.*600

          .         .         .         .         .         .       g.367847
 gggggactctggtgccagccttgaaagtcatggtcgtgggccctttcccatggaggctgc       c.*660

          .         .         .         .         .         .       g.367907
 agccttaggagagctctgagcctctcagcagccctccttgggttgaactattctccttag       c.*720

          .         .         .         .         .         .       g.367967
 taactaggtaagtgggaaagccttttgatgtggcatggccaaggtccagccacaagtgca       c.*780

          .         .         .         .         .         .       g.368027
 actgccacctgtccaggggtctgggcctccttccctcaaggctgccacacaaagtagcag       c.*840

          .         .         .         .         .         .       g.368087
 aaataggatgatgtttgtgagcaccagactcaagaccatgaccttctttgatccttgaaa       c.*900

          .         .         .         .         .         .       g.368147
 atgggaactttgacagccatgaccatgaaactcacaaggcaacgcgatgaaactcacaaa       c.*960

          .         .         .         .         .         .       g.368207
 gcaatgcttggagcaaaactcctgagctagacagcacagcagcacccatcccctgccaga       c.*1020

          .         .         .         .         .         .       g.368267
 gcccttccgttctgaggtcagacacacaaaaccttcgtcaattgcacaccggtgctgttg       c.*1080

          .         .         .         .         .         .       g.368327
 ggagtgaccaaaccacatgaaccagacttttcccgtccaggaaatagcatttcagatttg       c.*1140

          .         .         .         .         .         .       g.368387
 gtttttaatttcatgcccttcggccacaggctcaacgggacatgcaacataaaaatggga       c.*1200

          .         .         .         .         .         .       g.368447
 aggttatttaaacaacaaaaaacagtatgatttaagtgttgagttaccagaaacccaaaa       c.*1260

          .         .         .         .         .         .       g.368507
 ggtttccttgccacgagccccctggagtgtcatccctgttcaccaggagagctcttcgca       c.*1320

          .         .         .         .         .         .       g.368567
 ggaggcctcccttgctcctgtaatcccacctcccctgaatgatgggattcccttggaaaa       c.*1380

          .         .         .         .         .         .       g.368627
 aggtctcacccctggtagccatctgcccttcccatggagagccagtcctgacacttctct       c.*1440

          .         .         .         .         .         .       g.368687
 ccagcgtgggtttgaaggggctgcccttcgctttgtgtgacttgtcctaatcctagccag       c.*1500

          .         .         .         .         .         .       g.368747
 atgtgttgccccatcccaagcctcgcaaggcagggtgtcctgttggcaatggaggacgta       c.*1560

          .         .         .         .         .         .       g.368807
 gagaagggacactttagatatttattatttacatgttttagtcgatgactaattagtagg       c.*1620

          .         .         .         .         .         .       g.368867
 tgctgtttttgcagcttgtcaattatgttaccttactaactgaagctgcctttattcaca       c.*1680

          .         .         .         .         .         .       g.368927
 aaaggccccttttcccatcttttcccaccccctggtgtctctctctctctcggtttctct       c.*1740

          .         .         .         .         .         .       g.368987
 ttctctgcgtctaccccccatcctcctcatcctcagagtaaagcaggggcatcgaacacc       c.*1800

          .         .         .         .         .         .       g.369047
 acgcaaagaaagctccaacccgcatcttccactggctttgagtggggtgccttggggacc       c.*1860

          .         .         .         .         .         .       g.369107
 gttggagccttgtttttttccttatgcagagtgtcagcctcactctccctcggattccaa       c.*1920

          .         .         .         .         .         .       g.369167
 gagtattggaattcctgagcctcccatcctccccctactcaccccccgtcacaggcacaa       c.*1980

          .         .         .         .         .         .       g.369227
 ggaggtgacaggcagaaaacgtggagggtgagtggggaatgtgctagctgcagagagttt       c.*2040

          .         .         .         .         .         .       g.369287
 gtggggaatgtgctagctgcagagagtttgggccattcctgcttgctccgtggttgcctt       c.*2100

          .         .         .         .         .         .       g.369347
 cccatggcccatctaattatgggcattcatgcgaccttaacagagggaaacaggctcctt       c.*2160

          .         .         .         .         .         .       g.369407
 tgagagagatccatcttaggaggagggtcgtcagatccaggcagcagagtccgggagata       c.*2220

          .         .         .         .         .         .       g.369467
 gccattctcaacagcgattccagggatctcagggtacttttctcagaaagcccctatgat       c.*2280

          .         .         .         .         .         .       g.369527
 ctcttttacagactctatggtggccacgcgctgggtgccacatcctctttctgcccccgg       c.*2340

          .         .         .         .         .         .       g.369587
 cctctgcctctggccagggtttccctggggctgccgaagccactttgggagcttcccttt       c.*2400

          .         .         .         .         .         .       g.369647
 caccctccttgctgggccaccagtgctttgtgttcgcagcgttatttgcagtggctttgg       c.*2460

          .         .         .         .         .         .       g.369707
 ggactcagcagtggcaagtccctgtgcataatgtgaacctgcagacttcaagatggggcc       c.*2520

          .         .         .         .         .         .       g.369767
 cctcctgcacccactaacatgtctgcctttttttgtttttatcctggaacaagtggagaa       c.*2580

          .         .         .         .         .         .       g.369827
 atggcagagctggctgactctggggacccttccctttttcccatggcttcatttcttcct       c.*2640

          .         .         .         .         .         .       g.369887
 caccacaactaattcggggagctgagaagtcacacagggtattcctctcccttctctgat       c.*2700

          .         .         .         .         .         .       g.369947
 gttattaattaatagaccagagaataaggttgcagatattacatttgttgtgtttttgtg       c.*2760

          .         .         .         .         .         .       g.370007
 ttttgtttttttttttaaggaaaatcccaaacaaagcccagcatgatttgagaaaagagg       c.*2820

          .         .         .         .         .         .       g.370067
 atgttttcccagggaaaataatttttttaacctgcctgagaatgatttatttatttgttg       c.*2880

          .         .         .         .         .         .       g.370127
 gaggccattggtcagacagcctggagcttgggctgtggaagatttcaaaagcatagggct       c.*2940

          .         .         .         .         .         .       g.370187
 gtggtctctggaaacctattacagcctgcagctgtgagctgagccagtgacgaggtccct       c.*3000

          .         .         .         .         .         .       g.370247
 ggaaactcaggaaggctgacaggtgggccttggggtattggtttgtggagaaggaagcat       c.*3060

          .         .         .         .         .         .       g.370307
 tctttaggctgcggcactccttatagtttcccacccaccgagtgacattcaggcagaaat       c.*3120

          .         .         .         .         .         .       g.370367
 tgagctcaggagacagccagccttcccacatcccacttcacttcccggtccacacgtaaa       c.*3180

          .         .         .         .         .         .       g.370427
 gcagtgtgtctccaaggaggcagtgagcaattcccaaggtccccgtgttgtgagaagcgc       c.*3240

          .         .         .         .         .         .       g.370487
 gctgctttctccctttgcaggggaaaaaaaaggctttcctggtgagatcatgagtccttc       c.*3300

          .         .         .         .         .         .       g.370547
 cggcttcatttctcattgtgggtttaacttctaaaacgcaaatggagtttagagaggatg       c.*3360

          .         .         .         .         .         .       g.370607
 agcagaaccacaggacctgcccccatctctcactcactgcaattgcttctactctgggca       c.*3420

          .         .         .         .         .         .       g.370667
 caagtagggtgtctgaagaccatgtttccctctggttctctagtttgcagataacacaga       c.*3480

          .         .         .         .         .         .       g.370727
 agacactggctagaaccttaagctttctgccaaaaagatgcagagagcagggcagtagct       c.*3540

          .         .         .         .         .         .       g.370787
 actggcagtggggtgtgaataaagagtcctttcacaaccaagttcactgaggatttggag       c.*3600

          .         .         .         .         .         .       g.370847
 caccagcttcccagcagtatcgaggggtggagaggtgtacattcaggtggaggggtacat       c.*3660

          .         .         .         .         .         .       g.370907
 ctaggggtggagaggtgtacattctagaaacagctgttaacacactccactttaaagaca       c.*3720

          .         .         .         .         .         .       g.370967
 gcaagctagacctgcaggatcaaagccacacactgtggtaggggttacaaatgtttatgg       c.*3780

          .         .         .         .         .         .       g.371027
 ggcccagaatactagcatagatgcgtgaaatggttggtgtgaggcaaaagggcatggtgg       c.*3840

          .         .         .         .         .         .       g.371087
 gggcaaggatggggactgtggtcttactggcatgcacgtgacctacccagaatgagcagc       c.*3900

          .         .         .         .         .         .       g.371147
 tgctactcagccccaacctgtcattgtttgtaaaaatgtaagcacagtgtagtggaatct       c.*3960

          .         .         .         .         .         .       g.371207
 tccaatttggaagggaagccggaaatccagatttaatggaaaaaatctgatttttcaacg       c.*4020

          .         .         .         .         .         .       g.371267
 tcgggttgtttgtttgtttgtttttgttttttttaacagatagtgggcaaagaaaaattc       c.*4080

          .         .         .         .         .         .       g.371327
 cactgttccacgtgtacactgccagcaacctctgctctctggagaggtggtttaaagtga       c.*4140

          .         .         .         .         .         .       g.371387
 gattatgcattgccctggtagaagaggaaaaaagccagcatcaggtcagggcaaaaataa       c.*4200

          .         .         .         .         .         .       g.371447
 cagcccatgttgaactcggaatggggacctcttgctaagtcattccactcctcaagagac       c.*4260

          .         .         .         .         .         .       g.371507
 cattccacagaggggggatggatcattcagctctcctggtcccaagattgtgctgaaggg       c.*4320

          .         .         .         .         .         .       g.371567
 aagaaggaatagaatctggagatctggactgctgccccttagatatgcagaggtccacat       c.*4380

          .         .         .         .         .         .       g.371627
 ctgcctggggctacagcttgtgggactccatcaaaccaggccgaaatggcaaagacagtc       c.*4440

          .         .         .         .         .         .       g.371687
 taggaggaggaggaggtagggtgtgaaacagccaggctctctccaaatcccaagtgttga       c.*4500

          .         .         .         .         .         .       g.371747
 cacagccatcttgtcccatccctggaagcctctttggaaaccacatagagctgtgctggc       c.*4560

          .         .         .         .         .         .       g.371807
 tcacgggatgtcctgtttgcttctgcctcagttaccttactttgcccatgggtctaccac       c.*4620

          .         .         .         .         .         .       g.371867
 aggcgctacctcattgtgtctgctgagaagtttacctgggaggggggaacaaagttgtcc       c.*4680

          .         .         .         .         .         .       g.371927
 aaatctgcttgagctgaatgtatgatctatgcaaattctctctctcctctctctcttcct       c.*4740

          .         .         .         .         .         .       g.371987
 ctctggctctcttagaagtttttttgttttgttttgttttgttttgtgtttaccttgcaa       c.*4800

          .         .         .         .         .         .       g.372047
 acaagatactgtataggaccctcttaagatggaggagggctttcttgcgccacctgtgtc       c.*4860

          .         .         .         .         .         .       g.372107
 tacccctcacgttgtctttggctctggtcttaccaggcgtatgcagggagaaagtgacct       c.*4920

          .         .         .         .         .         .       g.372167
 ctcttccctctccacttggctgggaatattccaactgcctctgcctacagataccaccag       c.*4980

          .         .         .         .         .         .       g.372227
 aaagcgggttctgcaccttgtcatccccctccctaacgtcatctactccatccctcatgt       c.*5040

          .         .         .         .         .         .       g.372287
 tcctccaacttgcttctcccatccctccttcaaaaacaaaacaaaacaaaacaaaagcct       c.*5100

          .         .         .         .         .         .       g.372347
 taggtttctcctttttgaaatgtggccttaacattatttttgggaagctgaccatccatc       c.*5160

          .         .         .         .         .         .       g.372407
 ctttccctcccatctccaccaacatcagagaagacagcatcgtgaagcttctgtggcagc       c.*5220

          .         .         .         .         .         .       g.372467
 ctcctaaggaaggggctgccaatctgtagttggcagatgctataggaattgcttacaaat       c.*5280

          .         .         .         .         .         .       g.372527
 gtcgtctttaagaaaaatgttcttatatttttcctatgggcaaaatgaaggcttgggtgc       c.*5340

          .         .         .         .         .         .       g.372587
 tcatctaaagctcagccaactcctgaagcactctctcagagcatactgctgctgtaatgg       c.*5400

          .         .         .         .         .         .       g.372647
 gctggcttaattatcggcagagtgcttgaaaaggctttgcagacctcccctgcccccaag       c.*5460

          .         .         .         .         .         .       g.372707
 actgggtgactttatatgtacttcattcaagggtaaatcaggagacgttctccatttatc       c.*5520

          .         .         .         .         .         .       g.372767
 tcttcgtccttcctgcctggaaagtgatagcactaaatattcccagcagatgggtagtgt       c.*5580

          .         .         .         .         .         .       g.372827
 tctcaaaggaatcaccctttccctaccttcagactctattctttacccttccattgctcc       c.*5640

          .         .         .         .         .         .       g.372887
 agtgctgatggaggccaaagacaaccccagggttttcataggaaattcactggaattgtg       c.*5700

          .         .         .         .         .         .       g.372947
 cgcaattgtctttgtagtccttttgccttttttttttttaaatattatgttgtcaatagc       c.*5760

          .         .         .         .         .         .       g.373007
 atttgtttgggtatttgttttagaggcctcactctaagttattaccgtccccttcattgt       c.*5820

          .         .         .         .         .         .       g.373067
 tttcaaagacatgtggtgatatagtttttaaaaataactattttgttatagatcataata       c.*5880

          .         .         .         .         .         .       g.373127
 tgcataaaactgtacagaaatattttgtaatgtgttgattttaaaaaaaatctgtaaata       c.*5940

          .         .         .         .         .         .       g.373187
 aagttttaaaaaaagaattcaaatggcacacgctgaaatatgtagatattttgctattta       c.*6000

          .         .         .         .         .         .       g.373247
 tttaaaggagtattttaagagatattgaactatctgaaattgaccagtaatcaaagttcc       c.*6060

          .         .         .         .         .         .       g.373307
 aatcatctgaatgcttttccttgaggtagaatgtgagtctcagaaatgactgcattacct       c.*6120

          .         .         .         .         .         .       g.373367
 gcccttttttgcaccttttctgtctttttattttgcagaacaacaacaacaacaaaattg       c.*6180

          .         .         .         .         .         .       g.373427
 tgccttagctgtatttttttgtctaggggagtttgtttctgtctgacaaagcaacatttt       c.*6240

          .         .         .         .         .         .       g.373487
 ttgcagaaaacagtggatgtattaaatactgtatcataccaaaaacactgcaggtgtata       c.*6300

          .         .         .         .         .         .       g.373547
 tagatgctttctgtcatactgtgttttcagatgcagaattttaaaattaaaaaaacactg       c.*6360

          .                                                         g.373558
 cctttatggaa                                                        c.*6371

 (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 10th nucleotide is indicated by a "." above the sequence. The Xylosyltransferase I protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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