(used for variant description)
(last modified May 9, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_020134.3 in the DPYSL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering DPYSL5 transcript NM_020134.3.
(upstream sequence)
. . . g.5038
ccccactctggactcccgcgctgggcgcgctgaggcgg c.-121
. . . . . . g.5098
cccccgagcgagcgcgcgtgcagccgccgccgccccgagcacccgcagctccggcgccgc c.-61
. . . . . . | 02 g.55399
ggcgagacggagacggaccgagccacgggcccccgcggccgcagcatctcggagga | gaac c.-1
. . . . . . g.55459
ATGCTTGCCAACTCAGCCAGCGTGAGGATCCTCATCAAGGGAGGCAAGGTGGTGAACGAT c.60
M L A N S A S V R I L I K G G K V V N D p.20
. . . . . . g.55519
GACTGCACCCACGAGGCTGACGTCTACATCGAGAATGGCATCATCCAGCAGGTGGGCCGC c.120
D C T H E A D V Y I E N G I I Q Q V G R p.40
. . . . . . g.55579
GAGCTCATGATCCCTGGCGGGGCCAAGGTGATTGATGCCACAGGAAAACTGGTGATCCCT c.180
E L M I P G G A K V I D A T G K L V I P p.60
. . . . . . g.55639
GGTGGCATCGACACCAGCACCCACTTCCACCAGACCTTCATGAATGCCACGTGCGTGGAC c.240
G G I D T S T H F H Q T F M N A T C V D p.80
. . | 03 . . . . g.81825
GACTTCTACCATGGGACCAAG | GCAGCACTCGTCGGAGGCACCACCATGATCATCGGCCAC c.300
D F Y H G T K | A A L V G G T T M I I G H p.100
. . . . . . g.81885
GTCCTGCCCGACAAGGAGACCTCCCTTGTGGACGCTTATGAGAAGTGCCGAGGTCTGGCC c.360
V L P D K E T S L V D A Y E K C R G L A p.120
. . . . . . g.81945
GACCCCAAGGTCTGCTGTGATTACGCCCTCCACGTGGGGATCACCTGGTGGGCACCCAAG c.420
D P K V C C D Y A L H V G I T W W A P K p.140
| 04 . . . . . . g.84212
| GTGAAAGCAGAAATGGAGACACTGGTGAGGGAGAAGGGTGTCAACTCGTTCCAGATGTTC c.480
| V K A E M E T L V R E K G V N S F Q M F p.160
. . . . . . g.84272
ATGACCTACAAGGACCTGTACATGCTTCGAGACAGTGAGCTGTACCAAGTGTTGCACGCT c.540
M T Y K D L Y M L R D S E L Y Q V L H A p.180
. . . . . . g.84332
TGCAAGGACATTGGGGCAATCGCCCGCGTCCATGCTGAAAATGGGGAGCTTGTGGCCGAG c.600
C K D I G A I A R V H A E N G E L V A E p.200
| 05 . . . . . . g.85214
| GGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGT c.660
| G A K E A L D L G I T G P E G I E I S R p.220
| 06 . . . . | 07 . g.90163
CCAGAGGAG | CTGGAAGCTGAAGCCACTCATCGTGTTATCACCATTGCAAACAGG | ACTCAC c.720
P E E | L E A E A T H R V I T I A N R | T H p.240
. . . . . . g.90223
TGTCCAATCTACCTGGTCAACGTGTCCAGTATCTCGGCTGGTGACGTTATCGCAGCTGCT c.780
C P I Y L V N V S S I S A G D V I A A A p.260
. | 08 . . . . . g.91527
AAGATGCAAG | GGAAGGTTGTGCTGGCGGAGACCACCACTGCACATGCCACGCTGACAGGC c.840
K M Q G | K V V L A E T T T A H A T L T G p.280
. . . . . . g.91587
TTACACTACTACCACCAGGACTGGTCCCACGCGGCTGCCTATGTCACGGTGCCTCCCCTG c.900
L H Y Y H Q D W S H A A A Y V T V P P L p.300
. . . . | 09. . g.96943
AGACTGGACACCAACACCTCAACCTACCTCATGAGCCTGCTGGCCAA | TGACACTCTGAAC c.960
R L D T N T S T Y L M S L L A N | D T L N p.320
. . . . . . g.97003
ATCGTGGCATCAGATCACCGGCCTTTCACCACAAAGCAGAAAGCTATGGGCAAGGAAGAC c.1020
I V A S D H R P F T T K Q K A M G K E D p.340
. . . . . . g.97063
TTCACCAAGATCCCACATGGAGTGAGTGGCGTGCAGGACCGCATGAGCGTCATCTGGGAG c.1080
F T K I P H G V S G V Q D R M S V I W E p.360
| 10 . . . . . g.98900
AGAGGAGTG | GTTGGAGGAAAGATGGATGAGAACCGTTTTGTGGCCGTTACCAGTTCCAAC c.1140
R G V | V G G K M D E N R F V A V T S S N p.380
. . . . . . g.98960
GCAGCTAAGCTTCTGAACCTGTATCCCCGCAAGGGCCGCATTATTCCCGGAGCCGATGCT c.1200
A A K L L N L Y P R K G R I I P G A D A p.400
. . . | 11 . . . g.99470
GATGTGGTGGTGTGGGACCCAGAAGCCACAAA | GACCATCTCAGCCAGCACGCAGGTCCAG c.1260
D V V V W D P E A T K | T I S A S T Q V Q p.420
. . . . . . g.99530
GGAGGAGACTTCAACCTGTATGAGAACATGCGCTGCCACGGCGTGCCACTGGTCACCATC c.1320
G G D F N L Y E N M R C H G V P L V T I p.440
. . . . . . g.99590
AGCCGGGGGCGCGTCGTGTATGAGAACGGCGTCTTCATGTGCGCCGAGGGCACCGGCAAG c.1380
S R G R V V Y E N G V F M C A E G T G K p.460
. . . . . . g.99650
TTCTGTCCCCTGAGGTCCTTCCCAGACACTGTCTACAAGAAGCTGGTCCAGAGAGAGAAG c.1440
F C P L R S F P D T V Y K K L V Q R E K p.480
| 12 . . . . . . g.101615
| ACTTTAAAGGTTAGAGGAGTGGACCGCACTCCCTACCTGGGGGATGTCGCTGTTGTCGTG c.1500
| T L K V R G V D R T P Y L G D V A V V V p.500
. . . . . . g.101675
CACCCTGGGAAAAAAGAGATGGGAACCCCACTCGCAGACACTCCTACCCGGCCCGTCACC c.1560
H P G K K E M G T P L A D T P T R P V T p.520
. . . . | 13 . g.103820
CGGCATGGGGGCATGAGGGACCTTCACGAATCCAGCTTCAGCCTCTCTG | GCTCTCAGATC c.1620
R H G G M R D L H E S S F S L S G | S Q I p.540
. . . . . . g.103880
GATGACCATGTTCCAAAGCGAGCTTCAGCTCGGATCCTCGCTCCTCCCGGAGGCAGGTCG c.1680
D D H V P K R A S A R I L A P P G G R S p.560
. g.103895
AGTGGCATTTGGTAA c.1695
S G I W X p.564
. . . . . . g.103955
aggcattgccaagccccccgagtgaggacgcaccgccgccaccagcccgcaactctccag c.*60
. . . . . . g.104015
ccgaagctgcaggggcaggagaggctgggctgggtggcacaccacccgaggggggccccg c.*120
. . . . . . g.104075
ggacccacggagccctccctatgtctgcaaagtgattcactgtgcttcgagccaactcta c.*180
. . . . . . g.104135
acaggcactttgagatgtgttcctcctgctgtagtcctttctgccttggcctcggcgggc c.*240
. . . . . . g.104195
ttttctggggcccaggaagcccacactatgcacagagcccaatgcatagagccctggcca c.*300
. . . . . . g.104255
gcccttcctctcactcctgcctccgctggctttgggaaagcccagactttagtgccctgc c.*360
. . . . . . g.104315
cccctggctgactggccagttgcccagagcactttagcagatgtggtttcaaagtaaagg c.*420
. . . . . . g.104375
cctcctcccccaccccttaggccccgtggtgacatttcccaagtcagacagatgtcagct c.*480
. . . . . . g.104435
tcccagccatgcccaggacgtcctatctcccccaacccacctctggccctgtgtaggggc c.*540
. . . . . . g.104495
agggatgggggtggctgggactcctggtgcccctcgccagcttctcctgcgccccgccca c.*600
. . . . . . g.104555
caccctcggggggtcacaggcccagaagggtagctgggcggggctcgaggctggtgccag c.*660
. . . . . . g.104615
gcgcgtgtaaatggttttgttttgcacgtttggtttgcgcagtagtttggtttgacttgt c.*720
. . . . . . g.104675
ttgtgcatcctgtgaaaaataacggtgcttgtgtcactagcatagaatagcgacaggaat c.*780
. . . . . . g.104735
agatgtggtccttaggagacgctgcacttgacaccaaccagacagcacagggcaggggtg c.*840
. . . . . . g.104795
gtggagggggctgggctcacaggcctctcttttccccgcctgcagtcttctgggctgcgg c.*900
. . . . . . g.104855
gaggccctggccctttccccttcccctcccctccttgtctagtttcccacattccaaaag c.*960
. . . . . . g.104915
ggggcctgggatgctagccccagagatgccagcccttcaggaagcaggtgtcctttcccc c.*1020
. . . . . . g.104975
tctctgcccctgatcactcccagcactccccttgccttcccctgtcttcacctgccacca c.*1080
. . . . . . g.105035
cacacacacacacacacacacacacacacacacacgcacggcttcctataacttcttcct c.*1140
. . . . . . g.105095
gctggacagagactcagcgctcctcctgtgtgactggcaagaggcctcatgcctgctgag c.*1200
. . . . . . g.105155
agaggaggagtgggagaggggcttgccagacaccagagagggagaccccaggcccacagg c.*1260
. . . . . . g.105215
acctggctgtcgaacccgcattgctgctcaggtgccgtgatctcccgtggtcggcaccag c.*1320
. . . . . . g.105275
gcccttgccagctcatggcctcatcttctcccctgtccatccaggtgggccctccctgct c.*1380
. . . . . . g.105335
tctaaagccccacagaagttcccatggaaacactagaggccgggtgtctccttccacctc c.*1440
. . . . . . g.105395
cagtgatctgggaagtgacccagccgcctgcccttgttaagcctggtctgccccgtggga c.*1500
. . . . . . g.105455
agtgacttcatgttgcacatgtgatttcagcccccgaggcttgcgcgaggcttctggacc c.*1560
. . . . . . g.105515
ctcggttaaaggtcagcccctggccgggtgcggtggctcacgcctgtaatcccagcactt c.*1620
. . . . . . g.105575
tgggaggccaaggcgggtggatcatggagtcaggagatcgagaccatcctggctaacacg c.*1680
. . . . . . g.105635
gtgaaaccccgtctctactaaaaatacaaaaattacccaggcgtggtggcgggcgcctgt c.*1740
. . . . . . g.105695
agtcccagctactgaggaggctgaggcaggagaatagcgtgaacccgggaggcggagctt c.*1800
. . . . . . g.105755
gcagtgagccaagatcacgccactgcacttcagcctggacgacagagtgagactccatct c.*1860
. . . . . . g.105815
caaaaaacagacaaacaaaaaagtcagcccctgcacatctctgtagtgcttttcatgtat c.*1920
. . . . . . g.105875
tcaaaccacttccgtatatgacctctcacttagtcctcatgacaatggagcacttattat c.*1980
. . . . . . g.105935
tcttcccattttacagatgaggaaactaagacccagaaagttcaggtcctctgaccccag c.*2040
. . . . . . g.105995
aagtgtctgtgatgaccctcccaaccttggctatctaccccacctgtggagaggaggtct c.*2100
. . . . . . g.106055
ggggtgacatctattgtagatcccacctgagagtttaaccaatgagaagacttactttcc c.*2160
. . . . . . g.106115
tggtaggcagcctgctttgttttgcacaggaagatagattttttttctcatctttcttat c.*2220
. . . . . . g.106175
aaacaacctcatgcacattctgtgtttgagccaagactagtcacccattgggggctaacc c.*2280
. . . . . . g.106235
gtgcagtgtgagctgcgtccacaccctcacttctcccttcactccccctttcctcactca c.*2340
. . . . . . g.106295
ggggctgagaggacagaggtggtcagccggggagcagaggtggcgaaggggctcatggca c.*2400
. . . . . . g.106355
agtggcagccattggaacaggggtgaggacccaggcctgggaaagccaccagggatgggg c.*2460
. . . . . . g.106415
gaaaccatgacgccgcctcctggtgcagtgcacaccatctctatccctgtcagccctcac c.*2520
. . . . . . g.106475
tgggtcatgggccttgggcagatgtcaaagagcccagcagcagcggtggtggccagctgg c.*2580
. . . . . . g.106535
gcagagcatccttgcttgggctaggaaagctttaccttctctgagtgcctccgcctgaga c.*2640
. . . . . . g.106595
gatgtgtgacccgtggcaccagggaaccacgtcttggagtggtccactgtaggccatgcg c.*2700
. . . . . . g.106655
cttcatccacccccagtccctacataggccctacccttgcccgggagcttctagatagaa c.*2760
. . . . . . g.106715
atcagaaagagattcaaggagccaaatgagcggtcagcccccaccatgcactccttgccc c.*2820
. . . . . . g.106775
cgtgcagagctccagccagcttcgtcaccagccccactggctcctggttggaacgaaagg c.*2880
. . . . . . g.106835
gtctctggttgcactgaatgcagctctcaaactggtcttgtacttgctgaataaatactg c.*2940
. . . . . . g.106895
ttgttcttgccttagctgctctctaggtttgtggggttaagttgccagaaaattgtgcta c.*3000
. . . . . . g.106955
ctgtgtgtgcgtgtgcgtgcgtgtgtgtagtgctaggagtccacagtaggtctctgtcaa c.*3060
. . . . . . g.107015
gccgatgtcgtgatgagggcttttctgatactgacccagaagccacagaaccacaaggaa c.*3120
. . . . . . g.107075
acccaaaccccctccagctgctgaggcgcaggcacagcctggggtcggatggagcctcca c.*3180
. . . . . . g.107135
gcaccccagcacccaggtgacttccccactcccctgtaaatgtcatggtgctaagactgt c.*3240
. . . . . . g.107195
gtcaaccccaagacgacacatggtcctgtgctttggccaccgtttgaggcaaaaactaaa c.*3300
. . . . . g.107251
cagcccgacacgttgtgttctggtgcaggtttgtattaaactgtagctacttctca c.*3356
(downstream sequence)
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