(used for variant description)
(last modified September 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003276.2 in the TMPO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021393.1, covering TMPO transcript NM_003276.2.
(upstream sequence)
. . . . . g.5055
gttcttggggcgtgggcgaagcaggctgctcgcctcctgcctgtagtgtgtgggc c.-241
. . . . . . g.5115
tggggttggtgcgagcttccagcttggccgcagttggttcgtagttcggctctggggtct c.-181
. . . . . . g.5175
tttgtgtccgggtctggcttggctttgtgtccgcgagtttttgttccgctccgcagcgct c.-121
. . . . . . g.5235
cttcccgggcaggagccgtgaggctcggaggcggcagcgcggtccccggccaggagcaag c.-61
. . . . . . g.5295
cgcgccggcgtgagcggcggcggcaaaggctgtggggagggggcttcgcagatccccgag c.-1
. . . . . . g.5355
ATGCCGGAGTTCCTGGAAGACCCCTCGGTCCTGACAAAAGACAAGTTGAAGAGTGAGTTG c.60
M P E F L E D P S V L T K D K L K S E L p.20
. . . . . . g.5415
GTCGCCAACAATGTGACGCTGCCGGCCGGGGAGCAGCGCAAAGACGTGTACGTCCAGCTC c.120
V A N N V T L P A G E Q R K D V Y V Q L p.40
. . . . . . g.5475
TACCTGCAGCACCTCACGGCTCGCAACCGGCCGCCGCTCCCCGCCGGCACCAACAGCAAG c.180
Y L Q H L T A R N R P P L P A G T N S K p.60
. . . . . . g.5535
GGGCCCCCGGACTTCTCCAGTGACGAAGAGCGCGAGCCCACCCCGGTCCTCGGCTCTGGG c.240
G P P D F S S D E E R E P T P V L G S G p.80
. . . | 02 . . g.17334
GCCGCCGCCGCGGGCCGGAGCCGAGCAGCCGTCGGCAGG | AAAGCCACAAAAAAAACTGAT c.300
A A A A G R S R A A V G R | K A T K K T D p.100
. . . . . . g.17394
AAACCCAGACAAGAAGATAAAGATGATCTAGATGTAACAGAGCTCACTAATGAAGATCTT c.360
K P R Q E D K D D L D V T E L T N E D L p.120
. . . . | 03 . . g.21121
TTGGATCAGCTTGTGAAATACGGAGTGAATCCTGGTCCTATTGTGG | GAACAACCAGGAAG c.420
L D Q L V K Y G V N P G P I V G | T T R K p.140
. . . . . . g.21181
CTATATGAGAAAAAGCTTTTGAAACTGAGGGAACAAGGAACAGAATCAAGATCTTCTACT c.480
L Y E K K L L K L R E Q G T E S R S S T p.160
. . . . . . g.21241
CCTCTGCCAACAATTTCTTCTTCAGCAGAAAATACAAGGCAGAATGGAAGTAATGATTCT c.540
P L P T I S S S A E N T R Q N G S N D S p.180
. . | 04 . . . . g.22285
GACAGATACAGTGACAATGAAGAAG | GAAAGAAGAAAGAACACAAGAAAGTGAAGTCCACT c.600
D R Y S D N E E G | K K K E H K K V K S T p.200
. . . . . . g.22345
AGGGATATTGTTCCTTTTTCTGAACTTGGAACTACTCCCTCTGGTGGTGGATTTTTTCAG c.660
R D I V P F S E L G T T P S G G G F F Q p.220
. . . . . . g.22405
GGTATTTCTTTTCCTGAAATCTCCACCCGTCCTCCTTTGGGCAGTACCGAACTACAGGCA c.720
G I S F P E I S T R P P L G S T E L Q A p.240
. . . . . . g.22465
GCTAAGAAAGTACATACTTCTAAGGGAGACCTACCTAGGGAGCCTCTTGTTGCCACAAAC c.780
A K K V H T S K G D L P R E P L V A T N p.260
. . . . . . g.22525
TTGCCTGGCAGGGGACAGTTGCAGAAGTTAGCCTCTGAAAGGAATTTGTTTATTTCATGC c.840
L P G R G Q L Q K L A S E R N L F I S C p.280
. . . . . . g.22585
AAGTCTAGCCATGATAGGTGTTTAGAGAAAAGTTCTTCGTCATCTTCTCAGCCTGAACAC c.900
K S S H D R C L E K S S S S S S Q P E H p.300
. . . . . . g.22645
AGTGCCATGTTGGTCTCTACTGCAGCTTCTCCTTCACTGATTAAAGAAACCACCACTGGT c.960
S A M L V S T A A S P S L I K E T T T G p.320
. . . . . . g.22705
TACTATAAAGACATAGTAGAAAATATTTGCGGTAGAGAGAAAAGTGGAATTCAACCATTA c.1020
Y Y K D I V E N I C G R E K S G I Q P L p.340
. . . . . . g.22765
TGTCCTGAGAGGTCCCATATTTCAGATCAATCGCCTCTCTCCAGTAAAAGGAAAGCACTA c.1080
C P E R S H I S D Q S P L S S K R K A L p.360
. . . . . . g.22825
GAAGAGTCTGAGAGCTCACAACTAATTTCTCCGCCACTTGCCCAGGCAATCAGAGATTAT c.1140
E E S E S S Q L I S P P L A Q A I R D Y p.380
. . . . . . g.22885
GTCAATTCTCTGTTGGTCCAGGGTGGGGTAGGTAGTTTGCCTGGAACTTCTAACTCTATG c.1200
V N S L L V Q G G V G S L P G T S N S M p.400
. . . . . . g.22945
CCCCCACTGGATGTAGAAAACATACAGAAGAGAATTGATCAGTCTAAGTTTCAAGAAACT c.1260
P P L D V E N I Q K R I D Q S K F Q E T p.420
. . . . . . g.23005
GAATTCCTGTCTCCTCCAAGAAAAGTCCCTAGACTGAGTGAGAAGTCAGTGGAGGAAAGG c.1320
E F L S P P R K V P R L S E K S V E E R p.440
. . . . . . g.23065
GATTCAGGTTCCTTTGTGGCATTTCAGAACATACCTGGATCCGAACTGATGTCTTCTTTT c.1380
D S G S F V A F Q N I P G S E L M S S F p.460
. . . . . . g.23125
GCCAAAACTGTTGTCTCTCATTCACTCACTACCTTAGGTCTAGAAGTGGCTAAGCAATCA c.1440
A K T V V S H S L T T L G L E V A K Q S p.480
. . . . . . g.23185
CAGCATGATAAAATAGATGCCTCAGAACTATCTTTTCCCTTCCATGAATCTATTTTAAAA c.1500
Q H D K I D A S E L S F P F H E S I L K p.500
. . . . . . g.23245
GTAATTGAAGAAGAATGGCAGCAAGTTGACAGGCAGCTGCCTTCACTGGCATGCAAATAT c.1560
V I E E E W Q Q V D R Q L P S L A C K Y p.520
. . . . . . g.23305
CCAGTTTCTTCCAGGGAGGCAACACAGATATTATCAGTTCCAAAAGTAGATGATGAAATC c.1620
P V S S R E A T Q I L S V P K V D D E I p.540
. . . . . . g.23365
CTAGGGTTTATTTCTGAAGCCACTCCACTAGGAGGTATTCAAGCAGCCTCCACTGAGTCT c.1680
L G F I S E A T P L G G I Q A A S T E S p.560
. . . . . . g.23425
TGCAATCAGCAGTTGGACTTAGCACTCTGTAGAGCATATGAAGCTGCAGCATCAGCATTG c.1740
C N Q Q L D L A L C R A Y E A A A S A L p.580
. . . . . . g.23485
CAGATTGCAACTCACACTGCCTTTGTAGCTAAGGCTATGCAGGCAGACATTAGTCAAGCT c.1800
Q I A T H T A F V A K A M Q A D I S Q A p.600
. . . . . . g.23545
GCACAGATTCTTAGCTCAGATCCTAGTCGTACCCACCAAGCGCTTGGGATTCTGAGCAAA c.1860
A Q I L S S D P S R T H Q A L G I L S K p.620
. . . . . . g.23605
ACATATGATGCAGCCTCATATATTTGTGAAGCTGCATTTGATGAAGTGAAGATGGCTGCC c.1920
T Y D A A S Y I C E A A F D E V K M A A p.640
. . . . . . g.23665
CATACCATGGGAAATGCCACTGTAGGTCGTCGATACCTCTGGCTGAAGGATTGCAAAATT c.1980
H T M G N A T V G R R Y L W L K D C K I p.660
. . . . . . g.23725
AATTTAGCTTCTAAGAATAAGCTGGCTTCCACTCCCTTTAAAGGTGGAACATTATTTGGA c.2040
N L A S K N K L A S T P F K G G T L F G p.680
. . . . g.23770
GGAGAAGTATGCAAAGTAATTAAAAAGCGTGGAAATAAACACTAG c.2085
G E V C K V I K K R G N K H X p.694
. . . . . . g.23830
taaaattaaggacaaaaagacatctatcttatctttcaggtactttatgccaacattttc c.*60
. . . . . . g.23890
ttttctgttaaggttgttttagtttccagatagggctaattacaaaatgttaagcttcta c.*120
. . . . . . g.23950
cccatcaaattacagtataaaagtaattgcctgtgtagaactacttgtcttttctaaaga c.*180
. . . . . . g.24010
tttgcgtagataggaagcctggtacaaacaatttaacgctttctagatcacatattagtc c.*240
. . . . . . g.24070
tctaagttgttttctgtttcctgctttacttatgtttttacaattctccaaaactaagaa c.*300
. . . . . . g.24130
aattctaattaggatataaggagtatttactgttcaatagaataatatgcatcctccttt c.*360
. . . . . . g.24190
atacctaggacagaattaaacatttgttacacattcagaacagtgatgttgttctttttg c.*420
. . . . . . g.24250
atacttttatctcagtatcttttcacgttccataacttgtccatatttttgctcatattt c.*480
. . . . . . g.24310
tcttacttttctttgttatttattcatgtctgcaacatcaatcatagtagtctagatcaa c.*540
. . . . . . g.24370
tgcaactcaaagcaccagtctacaaactgttacttatccacaggcaagataagcatgcac c.*600
. . . . . . g.24430
aagaatttaaatctagagatactttttaggtcaatgacaggatttgattttttagcaaaa c.*660
. . . . . . g.24490
ttttattaatagctaaagcaatgtattgatttacactctgatgcaagtaatttatctctt c.*720
. . . . . . g.24550
cattgactggtagcaaccaattcatggaccagtaccatggaccacactttgagaaacact c.*780
. . . . . . g.24610
tctttggataataatagatatcctgggatagtgcatgttcaccatctattttgtcagata c.*840
. . . . . . g.24670
atggggccttttaaaaaataatactttgctttcatgatatattgtattttgtggaaagtt c.*900
. . . . . . g.24730
aagtttagcaatatagactctaaaagcaaattaaatttttttaagccataagaaattata c.*960
. . . . . . g.24790
ctatatcccagtatctgtatgtctgtataaagcagtgtattatcatgttttcatttctgt c.*1020
. . . . . . g.24850
gattgtaagttaagagtcttaactgcagaggtattgtggaaagtagtagccttaagcata c.*1080
. . . . . . g.24910
ataaaatatggtctcttgggtactccctctggccattaccacattcttagattatatgtg c.*1140
. . . . . . g.24970
tccatctttgcagctttctgagagtaattttatttgttgtcttctgaaatgtacatgtat c.*1200
. . . . . . g.25030
acatgtacctactgagtgctatgtgatttttaaaaatgtattactgtagaatgcttctgc c.*1260
. . . g.25062
aaattcaataaagttgttaaatttgaacagtg c.*1292
(downstream sequence)
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