(used for variant description)
(last modified May 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001163435.1 in the TBCK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering TBCK transcript NM_001163435.1.
(upstream sequence)
g.5443
agcgt c.-361
. . . . . . g.5503
tgggtcgcggtggctgtgagggcggaagaaaaggccaggctgaggggagggtagagggtg c.-301
. . . . . . g.5563
aaaagctcggatctgtgtttggggaaggccaggcttgcgctcctcgccgggttccgcgaa c.-241
. . . . . . g.5623
ggttaaccttggctgacttggctcgcgagcaaagggcagcgtctgagctcccggcgttcc c.-181
. . . . . . g.5683
aggagtggcctcttttgtaggagcacctgaaatgcagcgtctggtgcactaagccgtagc c.-121
. . . . . . g.5743
ggcagcagcagccacagcgacagcgctggggccctgtgtagaagctccatcccccttgtc c.-61
. . . . | 02 . . g.12744
tttgtgcttgcctgcgtccccagactcagag | attatcttagaagacctaggactccaaaa c.-1
. . . . . . g.12804
ATGTTTCCCCTGAAGGACGCTGAAATGGGAGCCTTTACCTTCTTTGCCTCGGCTCTGCCA c.60
M F P L K D A E M G A F T F F A S A L P p.20
. . . . . . g.12864
CATGATGTTTGTGGAAGCAATGGACTTCCTCTCACACCAAATTCCATCAAAATTTTAGGG c.120
H D V C G S N G L P L T P N S I K I L G p.40
. . . . . . g.12924
CGCTTTCAAATCCTTAAAACCATCACCCATCCCAGACTCTGCCAGTATGTGGATATTTCT c.180
R F Q I L K T I T H P R L C Q Y V D I S p.60
. | 03 . . . . . g.26585
AGGGGAAAGCATG | AACGACTAGTGGTCGTGGCTGAACATTGTGAACGTAGTCTGGAAGAC c.240
R G K H E | R L V V V A E H C E R S L E D p.80
. . | 04 . . . . g.59526
TTGCTTCGAGAAAGGAAACCTGTGAG | CTGTTCAACGGTTTTGTGTATAGCATTTGAGGTT c.300
L L R E R K P V S | C S T V L C I A F E V p.100
. . . . . . g.59586
CTTCAGGGCTTGCAGTATATGAACAAACATGGTATAGTACACAGGGCATTGTCTCCTCAT c.360
L Q G L Q Y M N K H G I V H R A L S P H p.120
. . | 05 . . . . g.61233
AATATCCTGTTGGACCGAAAG | GGACATATTAAATTGGCTAAATTTGGACTTTATCACATG c.420
N I L L D R K | G H I K L A K F G L Y H M p.140
. . . | 06 . . . g.69722
ACAGCTCATGGTGATGATGTTGATTTCCCAATAGG | GTATCCCTCGTACTTGGCCCCTGAG c.480
T A H G D D V D F P I G | Y P S Y L A P E p.160
. . . . . . g.69782
GTAATTGCACAGGGAATTTTCAAAACCACTGATCACATGCCAAGTAAAAAACCATTGCCT c.540
V I A Q G I F K T T D H M P S K K P L P p.180
. . . . . | 07. g.71229
TCTGGCCCCAAATCAGATGTATGGTCTCTTGGAATCATTTTATTTGAGCTTTGTGTG | GGA c.600
S G P K S D V W S L G I I L F E L C V | G p.200
. . . . . | 08 g.72724
AGAAAATTATTTCAGAGCTTGGATATTTCTGAAAGACTAAAATTTTTGCTTACTTTGG | AT c.660
R K L F Q S L D I S E R L K F L L T L D | p.220
. . . . . . g.72784
TGTGTAGATGACACTTTAATAGTTCTGGCTGAAGAGCATGGTTGTTTGGACATTATAAAG c.720
C V D D T L I V L A E E H G C L D I I K p.240
| 09 . . . . . . g.73458
| GAGCTTCCTGAAACTGTGATAGATCTTTTGAATAAGTGCCTTACCTTCCATCCTTCTAAG c.780
| E L P E T V I D L L N K C L T F H P S K p.260
| 10 . . . . . . g.74475
AG | GCCAACCCCAGATCAATTAATGAAGGACAAAGTATTCAGTGAGGTATCACCTTTATAT c.840
R | P T P D Q L M K D K V F S E V S P L Y p.280
. . . . . . g.74535
ACCCCCTTTACCAAACCTGCCAGTCTGTTTTCATCTTCTCTGAGATGTGCTGATTTAACT c.900
T P F T K P A S L F S S S L R C A D L T p.300
. . . | 11 . . . g.76969
CTGCCTGAGGATATCAGTCAGTTGTGTAAAG | ATATAAATAATGATTACCTGGCAGAAAGA c.960
L P E D I S Q L C K D | I N N D Y L A E R p.320
. . . . . . g.77029
TCTATTGAAGAAGTGTATTACCTTTGGTGTTTGGCTGGAGGTGACTTGGAGAAAGAGCTT c.1020
S I E E V Y Y L W C L A G G D L E K E L p.340
. . . . . | 12 . g.79145
GTCAACAAGGAAATCATTCGATCCAAACCACCTATCTGCACACTCCCCAA | TTTTCTCTTT c.1080
V N K E I I R S K P P I C T L P N | F L F p.360
. . . . . . g.79205
GAGGATGGTGAAAGCTTTGGACAAGGTCGAGATAGAAGCTCGCTTTTAGATGATACCACT c.1140
E D G E S F G Q G R D R S S L L D D T T p.380
. . . | 13 . . . g.84926
GTGACATTGTCGTTATGCCAGCTAAGAAAT | AGATTGAAAGATGTTGGTGGAGAAGCATTT c.1200
V T L S L C Q L R N | R L K D V G G E A F p.400
. . | 14 . . . . g.85225
TACCCATTACTTGAAGATGA | CCAGTCTAATTTACCTCATTCAAACAGCAATAATGAGTTG c.1260
Y P L L E D D | Q S N L P H S N S N N E L p.420
. . . . . . g.85285
TCTGCAGCTGCCACGCTCCCTTTAATCATCAGAGAGAAGGATACAGAGTACCAACTAAAT c.1320
S A A A T L P L I I R E K D T E Y Q L N p.440
. . . | 15 . . . g.86367
AGAATTATTCTCTTCGACAGGCTGCTAAAG | GCTTATCCATATAAAAAAAACCAAATCTGG c.1380
R I I L F D R L L K | A Y P Y K K N Q I W p.460
. . . . . . g.86427
AAAGAAGCAAGAGTTGACATTCCTCCTCTTATGAGAGGTTTAACCTGGGCTGCTCTTCTG c.1440
K E A R V D I P P L M R G L T W A A L L p.480
| 16 . . . . . g.88105
GGAGTTGAG | GGAGCTATTCATGCCAAGTACGATGCAATTGATAAAGACACTCCAATTCCT c.1500
G V E | G A I H A K Y D A I D K D T P I P p.500
. | 17 . . . . . g.88688
ACAGATAGACAA | ATTGAAGTGGATATTCCTCGCTGTCATCAGTACGATGAACTGTTATCA c.1560
T D R Q | I E V D I P R C H Q Y D E L L S p.520
. . . . . . g.88748
TCACCAGAAGGTCATGCAAAATTTAGGCGTGTATTAAAAGCCTGGGTAGTGTCTCATCCT c.1620
S P E G H A K F R R V L K A W V V S H P p.540
. | 18 . . . . g.89966
GATCTTGTGTATTGGCAAG | GTCTTGACTCACTTTGTGCTCCATTCCTATATCTAAACTTC c.1680
D L V Y W Q G | L D S L C A P F L Y L N F p.560
. | 19 . . . . . g.91308
AATAATGAAG | CCTTGGCTTATGCATGTATGTCTGCTTTTATTCCCAAATACCTGTATAAC c.1740
N N E A | L A Y A C M S A F I P K Y L Y N p.580
. . . | 20 . . . g.108895
TTCTTCTTAAAAGACAACTCACATGTAATACAAG | AGTATCTGACTGTCTTCTCTCAGATG c.1800
F F L K D N S H V I Q E | Y L T V F S Q M p.600
. . . . . . g.108955
ATTGCATTTCATGATCCAGAGCTGAGTAATCATCTCAATGAGATTGGTTTCATTCCAGAT c.1860
I A F H D P E L S N H L N E I G F I P D p.620
| 21 . . . | 22. . . g.127957
| CTCTATGCCATCCCTTGGTTTCTTACCATGTTTACTC | ATGTATTTCCACTACACAAAATT c.1920
| L Y A I P W F L T M F T H | V F P L H K I p.640
. . . . . . g.128017
TTCCACCTCTGGGATACCTTACTACTTGGGAATTCCTCTTTCCCATTCTGTATTGGAGTA c.1980
F H L W D T L L L G N S S F P F C I G V p.660
. . . . . . g.128077
GCAATTCTTCAGCAGCTGCGGGACCGGCTTTTGGCTAATGGCTTTAATGAGTGTATTCTT c.2040
A I L Q Q L R D R L L A N G F N E C I L p.680
. | 23 . . . . g.150475
CTCTTCTCCGATTTACCAG | AAATTGACATTGAACGCTGTGTGAGAGAATCTATCAACCTG c.2100
L F S D L P E | I D I E R C V R E S I N L p.700
. . . . . . g.150535
TTTTGTTGGACTCCTAAAAGTGCTACTTACAGACAGCATGCTCAACCTCCAAAGCCATCT c.2160
F C W T P K S A T Y R Q H A Q P P K P S p.720
. . . . . . g.150595
TCTGACAGCAGTGGAGGCAGAAGTTCGGCACCTTATTTCTCTGCTGAGTGTCCAGATCCT c.2220
S D S S G G R S S A P Y F S A E C P D P p.740
. | 24 . . . . . g.205371
CCAAAGACAGATCTG | TCAAGAGAATCCATCCCATTAAATGACCTGAAGTCAGAAGTATCA c.2280
P K T D L | S R E S I P L N D L K S E V S p.760
. . . . . . g.205431
CCACGGATTTCAGCAGAGGACCTGATTGACTTGTGTGAGCTCACAGTGACAGGCCACTTC c.2340
P R I S A E D L I D L C E L T V T G H F p.780
. . . . . . g.205491
AAAACACCCAGCAAGAAAACAAAGTCCAGTAAACCAAAGCTCCTGGTGGTTGACATCCGG c.2400
K T P S K K T K S S K P K L L V V D I R p.800
. | 25 . . . . . g.226112
AATAGTGAAGA | CTTTATTCGTGGTCACATTTCAGGAAGCATCAACATTCCATTCAGTGCT c.2460
N S E D | F I R G H I S G S I N I P F S A p.820
. . . . . . g.226172
GCCTTCACTGCAGAAGGGGAGCTTACCCAGGGCCCTTACACTGCTATGCTCCAGAACTTC c.2520
A F T A E G E L T Q G P Y T A M L Q N F p.840
. . . . . | 26 . g.275033
AAAGGGAAGGTCATTGTCATCGTGGGGCATGTGGCAAAACACACAGCTGAG | TTTGCAGCT c.2580
K G K V I V I V G H V A K H T A E | F A A p.860
. . . . . . g.275093
CACCTTGTGAAGATGAAATATCCAAGAATCTGTATTCTAGATGGTGGCATTAATAAAATA c.2640
H L V K M K Y P R I C I L D G G I N K I p.880
. . . . g.275135
AAGCCAACAGGCCTCCTCACCATCCCATCTCCTCAAATATGA c.2682
K P T G L L T I P S P Q I X p.893
. . . . . . g.275195
agaaccaagagtgtgactgccaaaacttagtgtggcatcagcaccaacagcacagttctt c.*60
. . . . . . g.275255
catatccacgccactctcagacaaaactagatgtccagattgttgcatttccgtaaagtt c.*120
. . . . . . g.275315
tgtcacgagacattttttaaaatctcataacccacatgttcagttatccatgcaagaaac c.*180
. . . . . . g.275375
ttgactctacatgtattgctgaaagaattttcttaacagtgaaatctgatcatatatttt c.*240
. . . . . . g.275435
taccacactgccacataaagcccaagaaattcagctgacaagacagatttagcattatca c.*300
. . . . . . g.275495
agaaatcccatttgccctgaaaaagctgtcctccattgtactgaacagacagtcctgtcg c.*360
. . . . . . g.275555
attgtgttatttagaaacatacactgaatgtgggctgaaatcatcatctttccataatga c.*420
. . . . . . g.275615
aaactgagaaactattcacaatgcattccttataaataaatgctacatttagtaactcat c.*480
. g.275629
ttcacccaaacaag c.*494
(downstream sequence)
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