(used for variant description)
(last modified June 17, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000110.3 in the DPYD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008807.2, covering DPYD transcript NM_000110.3.
(upstream sequence)
. g.5017
gctccgcccccgcgccg c.-121
. . . . . . g.5077
ccggccctagtctgcctgttttcgactcgcgctccggctgctgtcacttggctctctggc c.-61
. . . . . . g.5137
tggagcttgaggacgcaaggagggtttgtcactggcagactcgagactgtaggcactgcc c.-1
. . . | 02 . . g.42706
ATGGCCCCTGTGCTCAGTAAGGACTCGGCGGACATCGAG | AGTATCCTGGCTTTAAATCCT c.60
M A P V L S K D S A D I E | S I L A L N P p.20
. . . . . . g.42766
CGAACACAAACTCATGCAACTCTGCGTTCCACTTCGGCCAAGAAATTAGACAAGAAACAT c.120
R T Q T H A T L R S T S A K K L D K K H p.40
. . . | 03 . . . g.97893
TGGAAAAGAAATCCTGATAAGAACTGCTTT | AATTGTGAGAAGCTGGAGAATAATTTTGAT c.180
W K R N P D K N C F | N C E K L E N N F D p.60
. . . . . | 04 . g.185587
GACATCAAGCACACGACTCTTGGTGAGCGAGGAGCTCTCCGAGAAGCAATGAG | ATGCCTG c.240
D I K H T T L G E R G A L R E A M R | C L p.80
. . . . . . g.185647
AAATGTGCAGATGCCCCGTGTCAGAAGAGCTGTCCAACTAATCTTGATATTAAATCATTC c.300
K C A D A P C Q K S C P T N L D I K S F p.100
. . | 05 . . . . g.204427
ATCACAAGTATTGCAAACAAG | AACTATTATGGAGCTGCTAAGATGATATTTTCTGACAAC c.360
I T S I A N K | N Y Y G A A K M I F S D N p.120
. . . . . . g.204487
CCACTTGGTCTGACTTGTGGAATGGTATGTCCAACCTCTGATCTTTGTGTAGGTGGATGC c.420
P L G L T C G M V C P T S D L C V G G C p.140
. . . . . . g.204547
AATTTATATGCCACTGAAGAGGGACCCATTAATATTGGTGGATTGCAGCAATTTGCTACT c.480
N L Y A T E E G P I N I G G L Q Q F A T p.160
| 06 . . . . . . g.226569
GAG | GTATTCAAAGCAATGAGTATCCCACAGATCAGAAATCCTTCGCTGCCTCCCCCAGAA c.540
E | V F K A M S I P Q I R N P S L P P P E p.180
. . . . . . g.226629
AAAATGTCTGAAGCCTATTCTGCAAAGATTGCTCTTTTTGGTGCTGGGCCTGCAAGTATA c.600
K M S E A Y S A K I A L F G A G P A S I p.200
. . . . . . g.226689
AGTTGTGCTTCCTTTTTGGCTCGATTGGGGTACTCTGACATCACTATATTTGAAAAACAA c.660
S C A S F L A R L G Y S D I T I F E K Q p.220
. . | 07 . . . . g.234301
GAATATGTTGGTGGTTTAAG | TACTTCTGAAATTCCTCAGTTCCGGCTGCCGTATGATGTA c.720
E Y V G G L S | T S E I P Q F R L P Y D V p.240
. . . . | 08 . . g.246895
GTGAATTTTGAGATTGAGCTAATGAAGGACCTTGGTGTAAAG | ATAATTTGCGGTAAAAGC c.780
V N F E I E L M K D L G V K | I I C G K S p.260
. . . . . . g.246955
CTTTCAGTGAATGAAATGACTCTTAGCACTTTGAAAGAAAAAGGCTACAAAGCTGCTTTC c.840
L S V N E M T L S T L K E K G Y K A A F p.280
. | 09 . . . . . g.330943
ATTGGAATAG | GTTTGCCAGAACCCAATAAAGATGCCATCTTCCAAGGCCTGACGCAGGAC c.900
I G I G | L P E P N K D A I F Q G L T Q D p.300
. . . . . | 10 g.332674
CAGGGGTTTTATACATCCAAAGACTTTTTGCCACTTGTAGCCAAAGGCAGTAAAGCAG | GA c.960
Q G F Y T S K D F L P L V A K G S K A G | p.320
. . . . . . g.332734
ATGTGCGCCTGTCACTCTCCATTGCCATCGATACGGGGAGTCGTGATTGTACTTGGAGCT c.1020
M C A C H S P L P S I R G V V I V L G A p.340
. . . . . . g.332794
GGAGACACTGCCTTTGACTGTGCAACATCTGCTCTACGTTGTGGAGCTCGCCGTGTGTTC c.1080
G D T A F D C A T S A L R C G A R R V F p.360
. . . . | 11 . g.352101
ATCGTCTTCAGAAAAGGCTTTGTTAATATAAGAGCTGTCCCTGAGGAG | ATGGAACTTGCT c.1140
I V F R K G F V N I R A V P E E | M E L A p.380
. . . . . . g.352161
AAGGAAGAAAAGTGTGAATTTCTGCCATTCCTGTCCCCACGGAAGGTTATAGTAAAAGGT c.1200
K E E K C E F L P F L S P R K V I V K G p.400
. . . . . . g.352221
GGGAGAATTGTTGCTATGCAGTTTGTTCGGACAGAGCAAGATGAAACTGGAAAATGGAAT c.1260
G R I V A M Q F V R T E Q D E T G K W N p.420
. . . . . . g.352281
GAAGATGAAGATCAGATGGTCCATCTGAAAGCCGATGTGGTCATCAGTGCCTTTGGTTCA c.1320
E D E D Q M V H L K A D V V I S A F G S p.440
. | 12 . . . . g.376356
GTTCTGAGTGATCCTAAAG | TAAAAGAAGCCTTGAGCCCTATAAAATTTAACAGATGGGGT c.1380
V L S D P K V | K E A L S P I K F N R W G p.460
. . . . . . g.376416
CTCCCAGAAGTAGATCCAGAAACTATGCAAACTAGTGAAGCATGGGTATTTGCAGGTGGT c.1440
L P E V D P E T M Q T S E A W V F A G G p.480
. . . . . . g.376476
GATGTCGTTGGTTTGGCTAACACTACAGTGGAATCGGTGAATGATGGAAAGCAAGCTTCT c.1500
D V V G L A N T T V E S V N D G K Q A S p.500
. . | 13 . . . . g.410154
TGGTACATTCACAAATACGTACAG | TCACAATATGGAGCTTCCGTTTCTGCCAAGCCTGAA c.1560
W Y I H K Y V Q | S Q Y G A S V S A K P E p.520
. . . . . . g.410214
CTACCCCTCTTTTACACTCCTATTGATCTGGTGGACATTAGTGTAGAAATGGCCGGATTG c.1620
L P L F Y T P I D L V D I S V E M A G L p.540
. . . . . . g.410274
AAGTTTATAAATCCTTTTGGTCTTGCTAGCGCAACTCCAGCCACCAGCACATCAATGATT c.1680
K F I N P F G L A S A T P A T S T S M I p.560
. . . . . . g.410334
CGAAGAGCTTTTGAAGCTGGATGGGGTTTTGCCCTCACCAAAACTTTCTCTCTTGATAAG c.1740
R R A F E A G W G F A L T K T F S L D K p.580
| 14 . . . . . . g.475896
| GACATTGTGACAAATGTTTCCCCCAGAATCATCCGGGGAACCACCTCTGGCCCCATGTAT c.1800
| D I V T N V S P R I I R G T T S G P M Y p.600
. . . . . . g.475956
GGCCCTGGACAAAGCTCCTTTCTGAATATTGAGCTCATCAGTGAGAAAACGGCTGCATAT c.1860
G P G Q S S F L N I E L I S E K T A A Y p.620
. . . . | 15 . . g.543613
TGGTGTCAAAGTGTCACTGAACTAAAGGCTGACTTTCCAGACAAC | ATTGTGATTGCTAGC c.1920
W C Q S V T E L K A D F P D N | I V I A S p.640
. . . . . | 16 . g.552421
ATTATGTGCAGTTACAATAAAAATGACTGGACGGAACTTGCCAAGAAGTCTGAG | GATTCT c.1980
I M C S Y N K N D W T E L A K K S E | D S p.660
. . . . . . g.552481
GGAGCAGATGCCCTGGAGTTAAATTTATCATGTCCACATGGCATGGGAGAAAGAGGAATG c.2040
G A D A L E L N L S C P H G M G E R G M p.680
. | 17 . . . . g.619804
GGCCTGGCCTGTGGGCAG | GATCCAGAGCTGGTGCGGAACATCTGCCGCTGGGTTAGGCAA c.2100
G L A C G Q | D P E L V R N I C R W V R Q p.700
. . . . . . g.619864
GCTGTTCAGATTCCTTTTTTTGCCAAGCTGACCCCAAATGTCACTGATATTGTGAGCATC c.2160
A V Q I P F F A K L T P N V T D I V S I p.720
. | 18 . . . . g.620722
GCAAGAGCTGCAAAGGAAG | GTGGTGCCAATGGCGTTACAGCCACCAACACTGTCTCAGGT c.2220
A R A A K E G | G A N G V T A T N T V S G p.740
. . . . . . g.620782
CTGATGGGATTAAAATCTGATGGCACACCTTGGCCAGCAGTGGGGATTGCAAAGCGAACT c.2280
L M G L K S D G T P W P A V G I A K R T p.760
. | 19 . . . . g.691106
ACATATGGAGGAGTGTCTG | GGACAGCAATCAGACCTATTGCTTTGAGAGCTGTGACCTCC c.2340
T Y G G V S G | T A I R P I A L R A V T S p.780
. . . . . . g.691166
ATTGCTCGTGCTCTGCCTGGATTTCCCATTTTGGCTACTGGTGGAATTGACTCTGCTGAA c.2400
I A R A L P G F P I L A T G G I D S A E p.800
. . . . | 20 . . g.732829
AGTGGTCTTCAGTTTCTCCATAGTGGTGCTTCCGTCCTCCAG | GTATGCAGTGCCATTCAG c.2460
S G L Q F L H S G A S V L Q | V C S A I Q p.820
. . . . . . g.732889
AATCAGGATTTCACTGTGATCGAAGACTACTGCACTGGCCTCAAAGCCCTGCTTTATCTG c.2520
N Q D F T V I E D Y C T G L K A L L Y L p.840
. . . . . . g.732949
AAAAGCATTGAAGAACTACAAGACTGGGATGGACAGAGTCCAGCTACTGTGAGTCACCAG c.2580
K S I E E L Q D W D G Q S P A T V S H Q p.860
. . . . | 21 . . g.827445
AAAGGGAAACCAGTTCCACGTATAGCTGAACTCATGGACAAG | AAACTGCCAAGTTTTGGA c.2640
K G K P V P R I A E L M D K | K L P S F G p.880
. . . . . . g.827505
CCTTATCTGGAACAGCGCAAGAAAATCATAGCAGAAAACAAGATTAGACTGAAAGAACAA c.2700
P Y L E Q R K K I I A E N K I R L K E Q p.900
. . . . . . g.827565
AATGTAGCTTTTTCACCACTTAAGAGAAACTGTTTTATCCCCAAAAGGCCTATTCCTACC c.2760
N V A F S P L K R N C F I P K R P I P T p.920
| 22 . . . . . . g.843643
ATCAAG | GATGTAATAGGAAAAGCACTGCAGTACCTTGGAACATTTGGTGAATTGAGCAAC c.2820
I K | D V I G K A L Q Y L G T F G E L S N p.940
. . . . . . g.843703
GTAGAGCAAGTTGTGGCTATGATTGATGAAGAAATGTGTATCAACTGTGGTAAATGCTAC c.2880
V E Q V V A M I D E E M C I N C G K C Y p.960
. . | 23. . . . g.846946
ATGACCTGTAATGATTCTGGCTACCAG | GCTATACAGTTTGATCCAGAAACCCACCTGCCC c.2940
M T C N D S G Y Q | A I Q F D P E T H L P p.980
. . . . . . g.847006
ACCATAACCGACACTTGTACAGGCTGTACTCTGTGTCTCAGTGTTTGCCCTATTGTCGAC c.3000
T I T D T C T G C T L C L S V C P I V D p.1000
. . . . . . g.847066
TGCATCAAAATGGTTTCCAGGACAACACCTTATGAACCAAAGAGAGGCGTACCCTTATCT c.3060
C I K M V S R T T P Y E P K R G V P L S p.1020
. g.847084
GTGAATCCGGTGTGTTAA c.3078
V N P V C X p.1025
. . . . . . g.847144
ggtgatttgtgaaacagttgctgtgaactttcatgtcacctacatatgctgatcttttaa c.*60
. . . . . . g.847204
aatcatgatccttgtgttcagctctttccaaattaaaacaaatatacattttctaaataa c.*120
. . . . . . g.847264
aaatatgtaatttcaaaatacatttgtaagtgtaaaaaatgtctcatgtcaatgaccatt c.*180
. . . . . . g.847324
caattagtggtcataaaatagaataattcttttctgaggatagtagttaaataactgtgt c.*240
. . . . . . g.847384
ggcagttaattggatgttcactgccagttgtcttatgtgaaaaattaacttttttgtggc c.*300
. . . . . . g.847444
aattagtgtgacagtttccaaattgccctatgctgtgctccatatttgatttctaattgt c.*360
. . . . . . g.847504
aagtgaaattaagcattttgaaacaaagtactctttaacatacaagaaaatgtatccaag c.*420
. . . . . . g.847564
gaaacattttatcattaaaaattacctttaattttaatgctgtttctaagaaaatgtagt c.*480
. . . . . . g.847624
tagctccataaagtacaaatgaagaaagtcaaaaaattatttgctatggcaggataagaa c.*540
. . . . . . g.847684
agcctaaaattgagtttgtagaactttattaagtaaaatccccttcgctgaaattgctta c.*600
. . . . . . g.847744
tttttggtgttggatagaggatagggagaatatttactaactaaataccattcactactc c.*660
. . . . . . g.847804
atgcgtgagatgggtgtacaaactcatcctcttttaatggcatttctctttaaactatgt c.*720
. . . . . . g.847864
tcctaacaaaatgagatgataggatagatcctggttaccactcttttgctgtgcacatac c.*780
. . . . . . g.847924
gggctctgactggttttaatagtcaccttcatgattatagcaactaatgtttgaacaaag c.*840
. . . . . . g.847984
ctcaaagtatgcaatgcttcattattcaagaatgaaaaatataatgttgataatatatat c.*900
. . . . . . g.848044
taagtgtgccaaatcagtttgactactctctgttttagtgtttatgtttaaaagaaatat c.*960
. . . . . . g.848104
attttttgttattattagataatatttttgtatttctctattttcataatcagtaaatag c.*1020
. . . . . . g.848164
tgtcatataaactcatttatctcctcttcatggcatcttcaatatgaatctataagtagt c.*1080
. . . . . . g.848224
aaatcagaaagtaacaatctatggcttatttctatgacaaattcaagagctagaaaaata c.*1140
. . . . . . g.848284
aaatgtttcattatgcacttttagaaatgcatatttgccacaaaacctgtattactgaat c.*1200
. . . g.848317
aatatcaaataaaatatcataaagcattttaaa c.*1233
(downstream sequence)
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