(used for variant description)
(last modified March 15, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001197294.1 in the DPYSL3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering DPYSL3 transcript NM_001197294.1.
(upstream sequence)
. g.5018
tgctccgcgcgctagctg c.-181
. . . . . . g.5078
gctgtgtggctcgctggctcgctagggacaagcaggaatcggagcagcactgccgcctct c.-121
. . . . . . g.5138
ggcgcgaaggctcaggcgcctcctcccgccacagtcactgtggctcggcgcacgctgccg c.-61
. . . . . . g.5198
gcggctgccctttccgcctctggggaagaaaaacccgcgggccgctttcgtgcttgaacc c.-1
. . . . . . g.5258
ATGGCCTCGGGCCGGAGGGGCTGGGACAGCTCCCACGAAGACGATCTGCCCGTGTACCTG c.60
M A S G R R G W D S S H E D D L P V Y L p.20
. . . . . . g.5318
GCCAGGCCGGGCACCACGGACCAGGTCCCGCGGCAGAAATACGGCGGCATGTTCTGCAAC c.120
A R P G T T D Q V P R Q K Y G G M F C N p.40
. . . . . . g.5378
GTGGAGGGCGCCTTCGAGAGCAAGACGCTGGATTTCGATGCCCTCAGCGTGGGGCAGCGG c.180
V E G A F E S K T L D F D A L S V G Q R p.60
. . . . . . g.5438
GGCGCGAAGACTCCTCGGAGCGGCCAGGGCAGCGACCGAGGATCGGGGAGTCGGCCCGGG c.240
G A K T P R S G Q G S D R G S G S R P G p.80
. . . . . . g.5498
ATCGAGGGGGACACCCCGCGCAGGGGCCAAGGCCGGGAAGAGAGCAGGGAGCCCGCGCCC c.300
I E G D T P R R G Q G R E E S R E P A P p.100
. . . . . . g.5558
GCCTCCCCCGCCCCCGCCGGGGTAGAGATCCGGAGCGCCACCGGCAAAGAGGTGTTGCAG c.360
A S P A P A G V E I R S A T G K E V L Q p.120
. . | 02 . . . . g.90132
AACCTCGGCCCCAAGGACAAG | AGTGACCGTCTCCTTATCAAGGGAGGCAGAATCGTCAAT c.420
N L G P K D K | S D R L L I K G G R I V N p.140
. . . . . | 03 . g.96435
GATGATCAGTCCTTTTATGCTGATATTTACATGGAAGATGGCTTAATAAA | ACAAATTGGA c.480
D D Q S F Y A D I Y M E D G L I K | Q I G p.160
. . . . . . g.96495
GACAATCTGATTGTTCCTGGAGGAGTGAAGACCATTGAAGCCAATGGGAAGATGGTGATC c.540
D N L I V P G G V K T I E A N G K M V I p.180
. . . . . . g.96555
CCTGGAGGCATCGATGTCCATACTCACTTCCAGATGCCATATAAGGGAATGACCACAGTA c.600
P G G I D V H T H F Q M P Y K G M T T V p.200
. . . . . | 04 . g.99188
GATGACTTCTTCCAAGGGACAAAGGCGGCCTTAGCAGGTGGCACCACCATGATCA | TTGAC c.660
D D F F Q G T K A A L A G G T T M I I | D p.220
. . . . . . g.99248
CATGTGGTGCCTGAGCCTGAGTCCAGCCTGACTGAGGCCTATGAGAAATGGAGAGAGTGG c.720
H V V P E P E S S L T E A Y E K W R E W p.240
. . . . . . g.99308
GCTGATGGGAAGAGTTGCTGTGACTATGCCCTGCATGTGGACATCACCCACTGGAATGAC c.780
A D G K S C C D Y A L H V D I T H W N D p.260
. . . . | 05 . . g.101419
AGCGTCAAGCAGGAAGTGCAGAACCTCATCAAGGACAAAG | GGGTTAACTCCTTCATGGTT c.840
S V K Q E V Q N L I K D K G | V N S F M V p.280
. . . . | 06 . . g.102386
TATATGGCTTATAAGGATTTGTATCAAGTATCTAACACAGAG | CTCTATGAGATCTTCACC c.900
Y M A Y K D L Y Q V S N T E | L Y E I F T p.300
. . . . . . g.102446
TGCCTGGGAGAGCTGGGGGCCATTGCTCAAGTTCATGCTGAGAATGGGGATATCATTGCC c.960
C L G E L G A I A Q V H A E N G D I I A p.320
| 07 . . . . . . g.106317
CAG | GAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGC c.1020
Q | E Q T R M L E M G I T G P E G H V L S p.340
. | 08 . . . . . g.109374
AGGCCAGAAGAG | CTGGAAGCTGAGGCTGTGTTCCGTGCCATCACCATTGCCAGCCAAACC c.1080
R P E E | L E A E A V F R A I T I A S Q T p.360
. . . . . . g.109434
AATTGCCCTCTCTACGTCACAAAGGTCATGAGCAAGAGTGCAGCTGACCTCATCTCACAA c.1140
N C P L Y V T K V M S K S A A D L I S Q p.380
. | 09 . . . . . g.113407
GCCAGGAAAAAAG | GAAATGTAGTCTTTGGTGAGCCCATCACTGCCAGCCTCGGCATAGAT c.1200
A R K K G | N V V F G E P I T A S L G I D p.400
. . . . . . g.113467
GGAACCCATTATTGGAGCAAGAACTGGGCCAAGGCGGCTGCATTTGTGACATCCCCACCC c.1260
G T H Y W S K N W A K A A A F V T S P P p.420
. . . . . | 10 . g.114233
CTGAGCCCTGACCCAACTACTCCGGACTACATCAACTCCTTGCTGGCCAG | CGGGGATCTG c.1320
L S P D P T T P D Y I N S L L A S | G D L p.440
. . . . . . g.114293
CAGCTATCTGGGAGTGCCCACTGCACCTTCAGCACTGCCCAGAAAGCAATTGGGAAGGAC c.1380
Q L S G S A H C T F S T A Q K A I G K D p.460
. . . . . . g.114353
AACTTCACAGCCATTCCTGAGGGCACCAATGGTGTGGAGGAGCGGATGTCTGTCATCTGG c.1440
N F T A I P E G T N G V E E R M S V I W p.480
. | 11 . . . . . g.115852
GACAAGGCTGTG | GCCACAGGGAAAATGGACGAAAACCAGTTCGTGGCTGTGACAAGCACA c.1500
D K A V | A T G K M D E N Q F V A V T S T p.500
. . . . . . g.115912
AACGCTGCCAAGATCTTCAACCTGTATCCCCGCAAGGGAAGAATATCTGTGGGTTCTGAC c.1560
N A A K I F N L Y P R K G R I S V G S D p.520
. . . . . . g.115972
AGCGACCTCGTCATCTGGGATCCAGATGCTGTGAAGATCGTCTCTGCCAAGAACCACCAG c.1620
S D L V I W D P D A V K I V S A K N H Q p.540
| 12 . . . . . . g.117268
TCT | GCGGCAGAGTACAACATCTTTGAAGGGATGGAGCTGCGCGGGGCTCCTCTGGTTGTC c.1680
S | A A E Y N I F E G M E L R G A P L V V p.560
. . . . . . g.117328
ATCTGCCAGGGCAAGATCATGCTGGAAGATGGCAACCTGCACGTGACCCAGGGGGCTGGC c.1740
I C Q G K I M L E D G N L H V T Q G A G p.580
. . . . . . g.117388
CGCTTCATACCCTGCAGCCCGTTCTCCGACTATGTCTACAAGCGCATTAAAGCACGGAGG c.1800
R F I P C S P F S D Y V Y K R I K A R R p.600
| 13 . . . . . . g.119392
AAG | ATGGCAGACCTGCATGCCGTCCCAAGGGGCATGTACGATGGGCCTGTGTTTGACCTG c.1860
K | M A D L H A V P R G M Y D G P V F D L p.620
. . . . . . g.119452
ACCACCACCCCCAAAGGTGGCACCCCCGCAGGCTCTGCTCGGGGCTCTCCTACTCGGCCG c.1920
T T T P K G G T P A G S A R G S P T R P p.640
. . . . | 14 . . g.120947
AACCCACCTGTGAGGAATCTTCATCAGTCGGGATTTAGCCTGTCAG | GCACCCAAGTGGAT c.1980
N P P V R N L H Q S G F S L S G | T Q V D p.660
. . . . . . g.121007
GAGGGGGTTCGCTCAGCCAGCAAGCGCATCGTGGCGCCCCCAGGCGGCCGTTCTAATATC c.2040
E G V R S A S K R I V A P P G G R S N I p.680
. g.121022
ACATCTCTGAGTTAA c.2055
T S L S X p.684
. . . . . . g.121082
gcaagccttcctcaaagagaggggcagaagcaagaagagattgttttgaagccaaaatgg c.*60
. . . . . . g.121142
tacaccgatatttaagaaggaaagcgaatccaaacggttgtgatctaaagaatcaataag c.*120
. . . . . . g.121202
cctcaagccttatgtttctccaatgttacgctcgcttgcctagctttacgaatattgctt c.*180
. . . . . . g.121262
tgttttctgtttatgcatagccttgatttgtttgactcccctccccccatttacatgcat c.*240
. . . . . . g.121322
gcaatcagacaggccactaaggtaaaagagtctgctctatcatagtgttgagagcgtgtg c.*300
. . . . . . g.121382
tagtgctgcatcttatgacaaggggacagacaagctgggacgtcagggaaatgaacaaaa c.*360
. . . . . . g.121442
gggacgcaggttatttggggtgagtgggtggtgggagcctggagcaaggtggagggtgca c.*420
. . . . . . g.121502
gaggggctggggtagggcatgtaggagggaggtgggtgggtcaggtgagtggaaggggtg c.*480
. . . . . . g.121562
ttgtatattgtgttgatgacgtacgttatttccatggaagatagccgctgtggcagctgt c.*540
. . . . . . g.121622
cacatcaccacagctccctagggtctgccgagaaggcaggcagtctttgggttctgttct c.*600
. . . . . . g.121682
ttgtcacgtcccctacaagtaaattttgtttctttgaacgtttattaaaatgccaagacc c.*660
. . . . . . g.121742
caaccatttcttccacctgcttgattgtgccagtgtttgctcaggcctctttcttagtgt c.*720
. . . . . . g.121802
tgctttcaaatccttctctttcctgggttgggaaggccaggcagggacagagcaaatgac c.*780
. . . . . . g.121862
acttctcttcctcttgccctccctgcctctttggtgctcttaaaagccagcagctgagaa c.*840
. . . . . . g.121922
catagcacaggcccacgtggtgagggcacccacagcttaaagacgcttccttctaaacac c.*900
. . . . . . g.121982
ggcgaggtcacctctcactcttctgtctttgcaaaccgagaagagtggcatgcttctggc c.*960
. . . . . . g.122042
atcccaagtcaggattttagctcagatgaggcagaatgaagggcctctcttacaggcagt c.*1020
. . . . . . g.122102
ttgtgtttgattctctcgatcctggcacatccatgataaataggagtttttgaaagttgg c.*1080
. . . . . . g.122162
ttttattaggtgttccctaatttttaccgtaataggtcatctcagcttatatgaaagtca c.*1140
. . . . . . g.122222
agtggggaactgggaaagccaaagtcagtcttgagcagagggagcacattttgtggacct c.*1200
. . . . . . g.122282
ggttccacctttccattccaaaccacctgtttccccttccattagcagaaactctggggg c.*1260
. . . . . . g.122342
aactttgtgtctcagtcctagaatctccccaagtgagtggaagtgacatgatgcagtctt c.*1320
. . . . . . g.122402
cctcatggggcacctgaaagaaattagtgtgggtgcttcgatctaccttgtctgtcagag c.*1380
. . . . . . g.122462
ttgaatatctctttccctatcatgctgcttctgaaaattcagttttggagcaagtcctgt c.*1440
. . . . . . g.122522
gagcaagataagaatctatagaaccaagatgctcattttcagaagaaatatgttcaacct c.*1500
. . . . . . g.122582
gggatcagacttccatgctctggggaatccaagtggtagcacctgtaaccctgtgtacta c.*1560
. . . . . . g.122642
agtgctttgaagagaagagcaggcctcagacaccttttaattgcttaggagaaaccattg c.*1620
. . . . . . g.122702
tctctgactgcaggtttgaataagttgaagaccagagaaaagtacacactgggctacaaa c.*1680
. . . . . . g.122762
ggaatttggagatagccaaggaacaggatttcccctagcaagctaccttctgttcaaatc c.*1740
. . . . . . g.122822
atgaaaaaagactatttccccttagaatagggaagcttgctattttaaagctcttgtagt c.*1800
. . . . . . g.122882
gcttttcttttaagggagatgtagtaaaagggaaaatgtagctcttagtttacacttcaa c.*1860
. . . . . . g.122942
agatgtgggggtctttcagagaactaagaataacagttttatgtgcagagagagtttgcc c.*1920
. . . . . . g.123002
agatctgaagcatatacctcattgactaggctgttactttgggataggttgcagtaccag c.*1980
. . . . . . g.123062
ccacagccagcagatagaggaaaagacacacataaactcgcttctgagcgtccacttctg c.*2040
. . . . . . g.123122
cactctctgctctgctgttactcagcccctgagtctgactcatctctgcacaacctctct c.*2100
. . . . . . g.123182
gtgccatgaagataagtcttccatggccaaatcggtcatccgcactgcccttgggacttc c.*2160
. . . . . . g.123242
cgaagtgaaccattccaccagaacctttgattctgcacaagatttccttgctctgggaac c.*2220
. . . . . . g.123302
aacccccaaatgcccttgggaggaacaacatgagctcaggaagcctctctttcttcactt c.*2280
. . . . . . g.123362
accattactaactctccaagcatagaaatccctgggaattgcgagaataactcccactat c.*2340
. . . . . . g.123422
tttaaaatttatattcagatttgtttcgtttcataagacacatcaaacaggcctatacaa c.*2400
. . . . . . g.123482
aaggtttaggaaaagaaaacaatggtgagtcccggccctcttcgaattcactggcacctc c.*2460
. . . . . . g.123542
atgcaagtgtaggaaggcacgctggatcgtctatctgattccaaagctgtcctttgccat c.*2520
. . . . . . g.123602
ctcatcccttggcctgccccccaaccctgaggatgcccctgccatccccccaacctcctc c.*2580
. . . . . . g.123662
atattgcctctgaacccagatggcaatccatcccggttctctctgagggccacgggcttg c.*2640
. . . . . . g.123722
ggtagtggaaagggtgtttgggaaattgttaaatcagttacccgtagtagagctatttct c.*2700
. . . . . . g.123782
tgtacttctaagttttctagaagtggaaggattgtagtcatcctgaaaatgggtttactt c.*2760
. . . . . . g.123842
caaaatccctcagccttgttcttcacgactgtctatactgagagtgtcatgtttccacaa c.*2820
. . . . . . g.123902
agggctgacacctgagcctggattttcactcatccctgagaagccctttccagtagggtg c.*2880
. . . . . . g.123962
ggcaattcccaacttccttgccacaagcttcccaggctttctcccctggaaaactccagc c.*2940
. . . . . . g.124022
ttgagtcccagatacactcatgggctgccctgggcagccagcattcattgtaagttccct c.*3000
. . . . . . g.124082
ctttgaaaactggtgtgtgggtgttcagttctgtgtctggtgggtatggacagacagtaa c.*3060
. . . . . . g.124142
tctcctgtgatctgtgctagctgtgaggcagctctggaacgtgaagagctgtttggtttg c.*3120
. . . . . . g.124202
aaccgtgaacaaaactgtgttttgagtttagctgacattaaagaaaaaagttcatcacgt c.*3180
. . . . g.124249
gactgttaatgtaaacctggttattaaaataactatgaaattaccaa c.*3227
(downstream sequence)
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