(used for variant description)
(last modified January 12, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_144628.2 in the TBC1D20 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering TBC1D20 transcript NM_144628.2.
(upstream sequence)
. g.5018
ctgcgcgcctgcgcgccg c.-121
. . . . . . g.5078
ctggccgacggaggggagcctgccgatgccgagcgggtgctacgtcccgcggtcggagcc c.-61
. . . . . . g.5138
gcgtcttctcccggctccgccaccagccggggctcgggtgggggcccggggccccggggc c.-1
. . . . . . g.5198
ATGGCCCTCCGGAGTGCGCAGGGCGACGGCCCCACCTCCGGCCACTGGGACGGCGGCGCG c.60
M A L R S A Q G D G P T S G H W D G G A p.20
. | 02 . . . . . g.19519
GAGAAGGCAG | ACTTTAACGCCAAAAGGAAAAAGAAAGTGGCAGAGATACACCAGGCTCTG c.120
E K A D | F N A K R K K K V A E I H Q A L p.40
. . . . . . g.19579
AACAGTGATCCCACTGATGTGGCTGCCCTTAGACGCATGGCTATCAGTGAAGGAGGGCTC c.180
N S D P T D V A A L R R M A I S E G G L p.60
. . . . . . g.19639
CTGACTGATGAGATCAGACGAAAAGTGTGGCCCAAGCTCCTCAATGTCAATGCCAATGAC c.240
L T D E I R R K V W P K L L N V N A N D p.80
. | 03 . . . . . g.22457
CCACCTCCTATATCAG | GGAAGAACCTACGGCAGATGAGCAAGGACTACCAACAAGTGTTG c.300
P P P I S G | K N L R Q M S K D Y Q Q V L p.100
. . . | 04. . . g.25523
CTGGACGTCCGGCGGTCATTGCGGCGGTTCCCTCCTG | GCATGCCAGAGGAACAGAGAGAA c.360
L D V R R S L R R F P P G | M P E E Q R E p.120
. . . . . . g.25583
GGGCTCCAGGAAGAACTGATTGACATCATCCTCCTCATCTTGGAGCGCAACCCTCAGCTG c.420
G L Q E E L I D I I L L I L E R N P Q L p.140
. . . . . . g.25643
CACTACTACCAGGGCTACCATGACATTGTGGTCACATTTCTGCTGGTGGTAGGCGAGAGG c.480
H Y Y Q G Y H D I V V T F L L V V G E R p.160
. . . . | 05 . . g.25870
CTGGCAACATCCCTGGTAGAAAAATTATCTACCCACCACCTCAG | GGATTTTATGGATCCA c.540
L A T S L V E K L S T H H L R | D F M D P p.180
. . . . . . g.25930
ACAATGGACAACACCAAGCATATATTAAACTATCTGATGCCCATCATTGACCAGGTGAAT c.600
T M D N T K H I L N Y L M P I I D Q V N p.200
. . | 06 . . . . g.27188
CCAGAGCTCCATGACTTCATGCAGAG | TGCTGAGGTAGGGACCATCTTTGCCCTCAGCTGG c.660
P E L H D F M Q S | A E V G T I F A L S W p.220
. . . . . . g.27248
CTCATCACCTGGTTTGGGCATGTCCTGTCTGACTTCAGGCACGTCGTGCGGTTATATGAC c.720
L I T W F G H V L S D F R H V V R L Y D p.240
. . . . | 07 . g.28260
TTCTTCCTGGCCTGCCACCCACTGATGCCGATTTACTTTGCAGCCGTG | ATTGTGTTGTAT c.780
F F L A C H P L M P I Y F A A V | I V L Y p.260
. . . . . . g.28320
CGCGAGCAGGAAGTCCTGGACTGTGACTGTGACATGGCCTCGGTCCACCACCTGTTGTCC c.840
R E Q E V L D C D C D M A S V H H L L S p.280
. . . . . . g.28380
CAGATCCCTCAGGACTTGCCCTATGAGACACTGATCAGCAGAGCAGGAGACCTTTTTGTT c.900
Q I P Q D L P Y E T L I S R A G D L F V p.300
. . . . . | 08 . g.28706
CAGTTTCCCCCATCCGAACTTGCTCGGGAGGCCGCTGCCCAACAGCAAGCTGAGAG | GACG c.960
Q F P P S E L A R E A A A Q Q Q A E R | T p.320
. . . . . . g.28766
GCAGCCTCTACTTTCAAAGACTTTGAGCTGGCATCAGCCCAGCAGAGGCCTGATATGGTG c.1020
A A S T F K D F E L A S A Q Q R P D M V p.340
. . . . . . g.28826
CTGCGGCAGCGGTTTCGGGGACTTCTGCGGCCTGAAGATCGAACAAAAGATGTCCTGACC c.1080
L R Q R F R G L L R P E D R T K D V L T p.360
. . . . . . g.28886
AAGCCAAGGACCAACCGCTTTGTGAAATTGGCAGTGATGGGGCTGACAGTGGCACTTGGA c.1140
K P R T N R F V K L A V M G L T V A L G p.380
. . . . . . g.28946
GCGGCTGCACTGGCTGTGGTGAAAAGTGCCCTGGAATGGGCCCCTAAGTTTCAGCTGCAG c.1200
A A A L A V V K S A L E W A P K F Q L Q p.400
. g.28958
CTGTTTCCCTGA c.1212
L F P X p.403
. . . . . . g.29018
aagccagagaagaccttcctcttacatcacattaaggtctcacccttccatggaaggatt c.*60
. . . . . . g.29078
gggaggggtggaatttcctttattaaaagggtttctgtccagagttttttattcctgcca c.*120
. . . . . . g.29138
ccctgccctgcccgtttgtgtttgcctttacttcagaggccagtagcagagcctacctga c.*180
. . . . . . g.29198
cacagaggggacctgggggcctggcacagaatcttatgcctctcccagtgggcttttgga c.*240
. . . . . . g.29258
tgggctctctgccacctccctggtgttggaggaagtgggtttctgaagcttgcagctgct c.*300
. . . . . . g.29318
tttgcaacctgctgggcctgggctgccctagttaccgggaacctcctagtcaccccatag c.*360
. . . . . . g.29378
aaggtgaactggaacatgggatgccctcttactgctcctgcttgcctgcatcagatggac c.*420
. . . . . . g.29438
acagaaggagggggctgctgctgaaggagtcaggcttgggatggagagcaagaggccaaa c.*480
. . . . . . g.29498
ggactcgtctgggagcatgatcggcccctcttactagcagctccatcagctgatcagaaa c.*540
. . . . . . g.29558
tcagagacagaagggaactaggttactcgttaaatcctacctattttcagcctagaaatc c.*600
. . . . . . g.29618
acatgggcgtttccagtcaagtgggaaggaagctcatttttagggcctagacctagacta c.*660
. . . . . . g.29678
gttttgcctgcctttttttcctccctgctttcttctacaagccacacaacattgcttata c.*720
. . . . . . g.29738
aaaggtacttttattactatttttagaatatatacaccccatatgtaaattaccctcact c.*780
. . . . . . g.29798
tttaaagtaataatagttccttcacggaaaaaaaaatagttctcatcagaaggatgagct c.*840
. . . . . . g.29858
tctaagatcctgaattttactttctacttgattaacattttcgctttagccagagttgct c.*900
. . . . . . g.29918
atttgcaaacagctttccacttccaaagtgccactttctgaccggtttttcttcctgttt c.*960
. . . . . . g.29978
tcctcaaatcatcctactcccaaataggcacccactcactaccttggcgtcgttttttgg c.*1020
. . . . . . g.30038
gtctgacttgactcgtcaactgctggtctctcccacctggttggaaatgtcgttggaaac c.*1080
. . . . . . g.30098
ttgcaaagactctccagaccttagggaacaagaggcatcactcagtccttctgggacagc c.*1140
. . . . . . g.30158
ttccctgtaagcaaagccaggtttgttttagattcactctggcctgaaaaaaaaagtgcc c.*1200
. . . . . . g.30218
ttttgctgctttaaagaattggggtatatggtatgaagcagccatgtacttgtattttcc c.*1260
. . . . . . g.30278
tggtctttcctgggcactcttctctcttggcagatgttttcttaaagtgaacacaccaga c.*1320
. . . . . . g.30338
agcactctaccccaccatatccagtcctctttgcatgcctgttgtgtgcagggtggaggg c.*1380
. . . . . . g.30398
tgtcccacgtgccagagcagctgggagccctgtccgctgagttacactaagcactttatt c.*1440
. . . . . . g.30458
tttatttattttattattattttcttttttctgagatggagtctcactctgttgcccagg c.*1500
. . . . . . g.30518
ctggagtgcagtggtgcagtctcagctcactgcaacctccgcctcccaagttcaggcaat c.*1560
. . . . . . g.30578
tctcgctgcctcagcctcccgagtagctgggactacaggcacctgctaccacgcctgact c.*1620
. . . . . . g.30638
aatttttgtatttttagtagagatggggtttcgccacgttggccaggctggtctcgaact c.*1680
. . . . . . g.30698
cctgacctcaggtgatctgcccgtctcgtcctcccaaagtgctgggattacaggtgtgag c.*1740
. . . . . . g.30758
ccaccacgcccagccaccactacgcactttaaaaccaaaaaaagctcaaagggatggatc c.*1800
. . . . . . g.30818
attgtccatggctcaggagccccactgtggggtaagtgtgatgtcgatggattaatttag c.*1860
. . . . . . g.30878
acagtggtgtattcatcagggcaaaggaaattcttccagaggtgatgatgcggcagatat c.*1920
. . . . . . g.30938
tcccagtgctctcccaaagcaagctggccctcttgtcatcctctcagtgggcggcaccag c.*1980
. . . . . . g.30998
ctgcccctccttccacaagtactcaagcctgtttgtaaatactgaaggaattgatggggt c.*2040
. . . . . . g.31058
tgaggaaaggaggtgcatgtgaccagggtcccaaggccacagcttttcagatcctaggaa c.*2100
. . . . . . g.31118
gcaagtggcatttgcttgagttgtggcctcggaaggagaatgtttatctgttttctaact c.*2160
. . . . . . g.31178
ttgctgacaccaggattctccctgtcattgagaagaaagcattatctaattaccttcagg c.*2220
. . . . . . g.31238
tggtttacttattctgtaaagaatatgtgtaaatattttgtacagagccctgtatcaaat c.*2280
. . . . . . g.31298
aaacagccatatgtggttactaatcacctcttctgtcattccgtccttggccaccgctca c.*2340
. . . . . . g.31358
gtgggaatggtctctgatctggatgctcccaccttccatgtcaggcccagaactgtgcca c.*2400
. . . . . . g.31418
tggtctgtggactcctggtcagccttgactggctaggagaccttgggcagtacctacagt c.*2460
. . . . . . g.31478
cttgctgtttctgtttcatctgcaagaattatgacccacacactccagctgcagcccagg c.*2520
. . . . . . g.31538
gcactgtgatattttatacgtgtgtagatgtttttgtccacagttcctggttcatcactc c.*2580
. . . . . . g.31598
ccataaccctttgttataatgttgggacactgcaggcctcagaaaacggaatctctgtct c.*2640
. . . . . . g.31658
gtgaccttctcctgccccatttcacttgctcaacaccagactttaatctgactgtagctc c.*2700
. . . . . . g.31718
ataagaccctcattccagagagggtgctgccccatacccggaaggaggaacgctgcacag c.*2760
. . . . . . g.31778
agaggccaagaagcatctggacagacaggccttgctgggtttagaccttatgctttttgt c.*2820
. . . . . . g.31838
ccagtttcatctcaacacagctgccatgcttcagccatgcctatccaatgacgtctccat c.*2880
. . . . . . g.31898
aaaaggcccaggaacacgggagcttctgaagagctgaacatgtggagggaggggaacgag c.*2940
. . . . . . g.31958
aacttgtccatgtgccaagagggtggcgcacccccactccatggggacagaagctccagc c.*3000
. . . . . . g.32018
atttgcccaggacccgtccagacctcaccctgtgtgtatcttcatctggctgtttactta c.*3060
. . . . g.32064
tttgtatccttttctaataatgtttgtaataaactggtaaacataa c.*3106
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14c
©2004-2016 Leiden University Medical Center