(used for variant description)
(last modified November 21, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_030773.3 in the TUBB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023424.1, covering TUBB1 transcript NM_030773.3.
(upstream sequence)
. . g.5029
ggggcagtattctgtgttgagggaggaaa c.-241
. . . . . . g.5089
aacactcccttccaaaagcatgacaggcagaaagcagagaagggccaggactggctgagg c.-181
. . . . . . g.5149
gcggggagctgggcctctggggtggacacacccttggtcacattgtgagggtagcttggt c.-121
. . . . . . g.5209
tggccagtcccaccactgcagtgaccacagttgtgttgggctcacaccagtgaaccgaag c.-61
. . . . . . g.5269
ctctggattctgagagtctgaggattccgtgaagatctcagacttgggctcagagcaagg c.-1
. . . . . | 02. g.8594
ATGCGTGAAATTGTCCATATTCAGATTGGCCAGTGTGGCAACCAGATCGGAGCCAAG | TTC c.60
M R E I V H I Q I G Q C G N Q I G A K | F p.20
. . . . . . g.8654
TGGGAGATGATTGGTGAGGAACACGGGATCGACTTGGCTGGGAGCGACCGCGGGGCCTCG c.120
W E M I G E E H G I D L A G S D R G A S p.40
. . . . | 03 . . g.9250
GCCTTGCAGCTGGAGAGAATCAGCGTGTACTACAACGAAGCCTACG | GTAGGAAATATGTG c.180
A L Q L E R I S V Y Y N E A Y G | R K Y V p.60
. . . . . . g.9310
CCCCGAGCAGTCTTGGTGGACCTAGAACCTGGGACGATGGACAGCATTCGATCTAGCAAA c.240
P R A V L V D L E P G T M D S I R S S K p.80
. . . | 04. . . g.9474
TTAGGAGCTCTCTTTCAACCCGACAGTTTTGTCCATG | GTAACTCTGGGGCTGGCAACAAC c.300
L G A L F Q P D S F V H G | N S G A G N N p.100
. . . . . . g.9534
TGGGCCAAAGGCCACTACACGGAGGGAGCCGAGCTGATCGAGAATGTCCTAGAGGTGGTG c.360
W A K G H Y T E G A E L I E N V L E V V p.120
. . . . . . g.9594
AGGCACGAGAGTGAGAGCTGTGACTGCCTGCAGGGCTTCCAGATCGTCCACTCCCTGGGC c.420
R H E S E S C D C L Q G F Q I V H S L G p.140
. . . . . . g.9654
GGGGGCACAGGCTCCGGGATGGGCACTCTGCTCATGAACAAGATTAGAGAGGAGTACCCG c.480
G G T G S G M G T L L M N K I R E E Y P p.160
. . . . . . g.9714
GACCGGATCATGAATTCCTTCAGCGTCATGCCTTCTCCCAAGGTGTCGGACACTGTGGTG c.540
D R I M N S F S V M P S P K V S D T V V p.180
. . . . . . g.9774
GAGCCCTACAACGCGGTTCTGTCTATCCACCAGCTGATTGAGAATGCAGATGCCTGTTTC c.600
E P Y N A V L S I H Q L I E N A D A C F p.200
. . . . . . g.9834
TGCATTGACAATGAGGCCCTCTATGACATCTGCTTCCGTACCCTGAAGCTGACGACACCC c.660
C I D N E A L Y D I C F R T L K L T T P p.220
. . . . . . g.9894
ACCTATGGGGATCTCAACCACCTAGTGTCCTTGACCATGAGCGGCATAACCACCTCCCTC c.720
T Y G D L N H L V S L T M S G I T T S L p.240
. . . . . . g.9954
CGGTTCCCGGGTCAGCTCAACGCAGACCTGCGCAAGCTGGCGGTGAACATGGTCCCCTTC c.780
R F P G Q L N A D L R K L A V N M V P F p.260
. . . . . . g.10014
CCCCGCCTGCACTTCTTTATGCCCGGCTTTGCCCCACTCACGGCCCAGGGCAGCCAGCAG c.840
P R L H F F M P G F A P L T A Q G S Q Q p.280
. . . . . . g.10074
TACCGAGCCCTCTCCGTGGCCGAGCTCACCCAGCAGATGTTCGATGCCCGCAATACCATG c.900
Y R A L S V A E L T Q Q M F D A R N T M p.300
. . . . . . g.10134
GCTGCCTGTGACCTCCGCCGTGGCCGCTACCTCACAGTGGCCTGCATTTTCCGGGGCAAG c.960
A A C D L R R G R Y L T V A C I F R G K p.320
. . . . . . g.10194
ATGTCCACCAAGGAAGTGGACCAGCAACTGCTCTCCGTGCAGACCAGGAACAGCAGCTGC c.1020
M S T K E V D Q Q L L S V Q T R N S S C p.340
. . . . . . g.10254
TTTGTGGAGTGGATTCCCAACAACGTCAAGGTGGCTGTCTGCGACATCCCGCCCCGGGGG c.1080
F V E W I P N N V K V A V C D I P P R G p.360
. . . . . . g.10314
CTGAGCATGGCCGCCACCTTCATTGGCAACAACACGGCCATCCAAGAGATCTTTAATAGG c.1140
L S M A A T F I G N N T A I Q E I F N R p.380
. . . . . . g.10374
GTCTCTGAGCATTTCTCAGCCATGTTCAAAAGGAAAGCTTTTGTGCACTGGTACACCAGC c.1200
V S E H F S A M F K R K A F V H W Y T S p.400
. . . . . . g.10434
GAAGGGATGGACATAAACGAATTTGGGGAAGCTGAAAATAACATCCATGATTTGGTATCC c.1260
E G M D I N E F G E A E N N I H D L V S p.420
. . . . . . g.10494
GAGTACCAACAATTTCAAGATGCCAAAGCAGTTCTAGAGGAAGATGAAGAGGTCACGGAG c.1320
E Y Q Q F Q D A K A V L E E D E E V T E p.440
. . . g.10530
GAGGCAGAAATGGAGCCAGAAGATAAGGGACATTAA c.1356
E A E M E P E D K G H X p.451
. . . . . . g.10590
ctgtgagagaagctgtgccgcggagtcgcttacagaacagtttctcattagatgagtgtt c.*60
. . . . . . g.10650
tctcctgcagcactccaaaacccactctgcactgcagcacagtgaatgatatgcactcac c.*120
. . . . . . g.10710
cattagcttcgacacagggactgagggagacaggtggggagcagctgacaggcattaggg c.*180
. . . . . . g.10770
tctttgctgacatctactaaccttgaagagtttgatgttcagtgcatacttattaactta c.*240
. . . . . . g.10830
aaaaaatagcaaatttattgtaaagtgctccctttgtttcaaagtgtttgccaggcatcc c.*300
. . . . . . g.10890
agactacacgtgtggatttgcagggagccactggagttggtgttacatttttatacttta c.*360
. . . . . . g.10950
gcagcactgataggcaccctggaatcctcacttggtatccgagggctactaagactcttt c.*420
. . . . . . g.11010
ccttaggttctttcctctgagcaaacactgactggcatcctgctttccagtgcctgccag c.*480
. . . . . . g.11070
cctccagaagagccaggtgcctgactagtacatggggagctacagagccaaggtcaatgt c.*540
. . . . . . g.11130
gagtcaacatccactagaaatatccatgttgtgtagacctgtgcatacaacatgctaact c.*600
. . . . . . g.11190
ggaaaagaggaaaaaagaaaagccacagtcctctccacaaaaatacctggtccaaacaag c.*660
. . . . . . g.11250
aaaaacaaaaagacaagcaaaactaaagaactgcagtcttctgatctttatttctgaaga c.*720
. . . . . . g.11310
gctagcctttaacatatatgtttatatagtttaaatttcttactactgttagatcccagg c.*780
. . . . . . g.11370
aattcattaataatcatccttggctttccttttaaaggctattttgaaatggtcttttca c.*840
. . . . . . g.11430
ctttcattcagtcatcaccccccaaaatgctctgcagcctctctgctctttgagaaaggg c.*900
. . . . . . g.11490
cacaccatgcgctcggcaaccattcaaatgcaggaattaagcagcaatggctgcagtgtc c.*960
. . . . . . g.11550
cttctcagttatggaggacatcgtctcattagggaacttttacagttcaaattaatttgc c.*1020
. . . . . . g.11610
agaagttgccataaatgtttgcataatgacatagctttaagcactacatgattttaatct c.*1080
. . . . . . g.11670
gctcacattataacaggaccaaatacacaagagcgtaatcaaatcatctgtaacttctta c.*1140
. . . . . . g.11730
attacagtttacctatttctgacatgcagcactgccatctcttccagcaccatcagggtt c.*1200
. . . . . . g.11790
ttaatggccctctagaattaccactgagatacactatttgatccatggataaccggtaat c.*1260
. . . . . . g.11850
gggaaaatgctccgaccctcaatgcagtaaatatttacttgcaggcaactgggttctcat c.*1320
. . . . . . g.11910
ctcttgatttgcttttgtaatcagcaataataaaatagcaggtagatggatgacagttgc c.*1380
. . . . . . g.11970
tcattctgagaaacttcactcttttcacttatgcatcacgaggaaataactaaaatacat c.*1440
. . . . . . g.12030
accaagagaaaaataccttgccatcggatcatcaacaagtcttctatttacaaacttcaa c.*1500
. . . . . . g.12090
aaaacacaaaacaacattcatgttttaaatgctttctacttgtggttcaagaagcactag c.*1560
. . . . . . g.12150
atttagtaagaaactctacctatatacttagtttgaagttagtaacttcctgagatgcta c.*1620
. . . . . . g.12210
aagacttacagcctgcgattatacaaggatttacacatgcttcctctggtgctttacttc c.*1680
. . . . . . g.12270
ccaaacctaaaaaagcaatgaaatagatgtaaggaaggagggatttaaaccttttaaaaa c.*1740
. . . . . . g.12330
acttttgctgacttatattactgtaaagatttgtttgctcaatagtaatcattaaactac c.*1800
. . . . . . g.12390
aaagtaattcaattttaaatggcaaaattgctttatttcagactaaataaattccttttc c.*1860
. g.12401
ttgaagcctaa c.*1871
(downstream sequence)
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