(used for variant description)
(last modified October 11, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000192.3 in the TBX5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007373.1, covering TBX5 transcript NM_000192.3.
(upstream sequence)
g.5007
catgcct c.-661
. . . . . . g.5067
tatgcaagagacctcagtcccccggaacaactcgatttccttccaatagaggtctgaggt c.-601
. . . . . . g.5127
ggactcccacctcccttcgtgaagagttccctcctctcccccttcctaagaaagtcgatc c.-541
. . . . . . g.5187
ttggctctatttgtgtcttatgttcatcaccctcattcctccggagaaagccgggttggt c.-481
. . . . . . g.5247
ttatgtctttatttattcccggggccaagacgtccggaacctgtggctgcgcagacccgg c.-421
. . . . . . g.5307
cactgataggcgaagacggagagaaatttacctcccgccgctgccccccagccaaacgtg c.-361
. . . . . . g.5367
acagcgcgcgggccggttgcgtgactcgtgacgtctccaagtcctataggtgcagcggct c.-301
. . . . . . g.5427
ggtgagatagtcgctatcgcctggttgcctctttattttactggggtatgcctggtaata c.-241
. . . . . . g.5487
aacagtaatatttaatttgtcggagaccacaaaccaaccttgagctgggaggtacgtgct c.-181
. . . . . . g.5547
cttcttgacagacgttggaagaagacctggcctaaagaggtctcttttggtggtcctttt c.-121
. . . . . . g.5607
caaagtcttcacctgagccctgctctccagcgaggcgcactcctggcttttgcgctccaa c.-61
. . . | 02 . . . g.9544
agaagaggtgggatagttggag | agcagaaccttgcgcgggcacagggccctgggcgcacc c.-1
. . . . . . g.9604
ATGGCCGACGCAGACGAGGGCTTTGGCCTGGCGCACACGCCTCTGGAGCCTGACGCAAAA c.60
M A D A D E G F G L A H T P L E P D A K p.20
. . . . . . g.9664
GACCTGCCCTGCGATTCGAAACCCGAGAGCGCGCTCGGGGCCCCCAGCAAGTCCCCGTCG c.120
D L P C D S K P E S A L G A P S K S P S p.40
. . | 03. . . . g.11555
TCCCCGCAGGCCGCCTTCACCCAGCAG | GGCATGGAGGGAATCAAAGTGTTTCTCCATGAA c.180
S P Q A A F T Q Q | G M E G I K V F L H E p.60
. . . . . . g.11615
AGAGAACTGTGGCTAAAATTCCACGAAGTGGGCACGGAAATGATCATAACCAAGGCTGGA c.240
R E L W L K F H E V G T E M I I T K A G p.80
| 04 . . . . . . g.13868
AG | GCGGATGTTTCCCAGTTACAAAGTGAAGGTGACGGGCCTTAATCCCAAAACGAAGTAC c.300
R | R M F P S Y K V K V T G L N P K T K Y p.100
. . . . . . g.13928
ATTCTTCTCATGGACATTGTACCTGCCGACGATCACAGATACAAATTCGCAGATAATAAA c.360
I L L M D I V P A D D H R Y K F A D N K p.120
| 05 . . . . . . g.14780
TG | GTCTGTGACGGGCAAAGCTGAGCCCGCCATGCCTGGCCGCCTGTACGTGCACCCAGAC c.420
W | S V T G K A E P A M P G R L Y V H P D p.140
. . . . . . g.14840
TCCCCCGCCACCGGGGCGCATTGGATGAGGCAGCTCGTCTCCTTCCAGAAACTCAAGCTC c.480
S P A T G A H W M R Q L V S F Q K L K L p.160
. . . | 06 . . . g.18579
ACCAACAACCACCTGGACCCATTTGGGCAT | ATTATTCTAAATTCCATGCACAAATACCAG c.540
T N N H L D P F G H | I I L N S M H K Y Q p.180
. . . . . . g.18639
CCTAGATTACACATCGTGAAAGCGGATGAAAATAATGGATTTGGCTCAAAAAATACAGCG c.600
P R L H I V K A D E N N G F G S K N T A p.200
. . . . . . g.18699
TTCTGCACTCACGTCTTTCCTGAGACTGCGTTTATAGCAGTGACTTCCTACCAGAACCAC c.660
F C T H V F P E T A F I A V T S Y Q N H p.220
| 07 . . . . . . g.27932
AAG | ATCACGCAATTAAAGATTGAGAATAATCCCTTTGCCAAAGGATTTCGGGGCAGTGAT c.720
K | I T Q L K I E N N P F A K G F R G S D p.240
. . . | 08 . . . g.47076
GACATGGAGCTGCACAGAATGTCAAGAATGCAAAG | TAAAGAATATCCCGTGGTCCCCAGG c.780
D M E L H R M S R M Q S | K E Y P V V P R p.260
. . . . . . g.47136
AGCACCGTGAGGCAAAAAGTGGCCTCCAACCACAGTCCTTTCAGCAGCGAGTCTCGAGCT c.840
S T V R Q K V A S N H S P F S S E S R A p.280
. . . . . . g.47196
CTCTCCACCTCATCCAATTTGGGGTCCCAATACCAGTGTGAGAATGGTGTTTCCGGCCCC c.900
L S T S S N L G S Q Y Q C E N G V S G P p.300
. . . . . . g.47256
TCCCAGGACCTCCTGCCTCCACCCAACCCATACCCACTGCCCCAGGAGCATAGCCAAATT c.960
S Q D L L P P P N P Y P L P Q E H S Q I p.320
. . | 09 . . . . g.57374
TACCATTGTACCAAGAGGAAAG | AGGAAGAATGTTCCACCACAGACCATCCCTATAAGAAG c.1020
Y H C T K R K E | E E C S T T D H P Y K K p.340
. . . . . . g.57434
CCCTACATGGAGACATCACCCAGTGAAGAAGATTCCTTCTACCGCTCTAGCTATCCACAG c.1080
P Y M E T S P S E E D S F Y R S S Y P Q p.360
. . . . . . g.57494
CAGCAGGGCCTGGGTGCCTCCTACAGGACAGAGTCGGCACAGCGGCAAGCTTGCATGTAT c.1140
Q Q G L G A S Y R T E S A Q R Q A C M Y p.380
. . . . . . g.57554
GCCAGCTCTGCGCCCCCCAGCGAGCCTGTGCCCAGCCTAGAGGACATCAGCTGCAACACG c.1200
A S S A P P S E P V P S L E D I S C N T p.400
. . . . . . g.57614
TGGCCAAGCATGCCTTCCTACAGCAGCTGCACCGTCACCACCGTGCAGCCCATGGACAGG c.1260
W P S M P S Y S S C T V T T V Q P M D R p.420
. . . . . . g.57674
CTACCCTACCAGCACTTCTCCGCTCACTTCACCTCGGGGCCCCTGGTCCCTCGGCTGGCT c.1320
L P Y Q H F S A H F T S G P L V P R L A p.440
. . . . . . g.57734
GGCATGGCCAACCATGGCTCCCCACAGCTGGGAGAGGGAATGTTCCAGCACCAGACCTCC c.1380
G M A N H G S P Q L G E G M F Q H Q T S p.460
. . . . . . g.57794
GTGGCCCACCAGCCTGTGGTCAGGCAGTGTGGGCCTCAGACTGGCCTGCAGTCCCCTGGC c.1440
V A H Q P V V R Q C G P Q T G L Q S P G p.480
. . . . . . g.57854
ACCCTTCAGCCCCCTGAGTTCCTCTACTCTCATGGCGTGCCAAGGACTCTATCCCCTCAT c.1500
T L Q P P E F L Y S H G V P R T L S P H p.500
. . . . . g.57911
CAGTACCACTCTGTGCACGGAGTTGGCATGGTGCCAGAGTGGAGCGACAATAGCTAA c.1557
Q Y H S V H G V G M V P E W S D N S X p.518
. . . . . . g.57971
agtgaggcctgcttcacaacagacatttcctagagaaagagagagagagaggagaaagag c.*60
. . . . . . g.58031
agagaaggagagagacagtagccaagagaaccccacggacaagatttttcatttcaccca c.*120
. . . . . . g.58091
atgttcacatctgcactcaaggtcgctggatgctgatctaatcagtagcttgaaaccaca c.*180
. . . . . . g.58151
attttaaaaatgtgactttcttgttttgtctcaaaacttaaaaaaacaaacacaaaaaga c.*240
. . . . . . g.58211
tgagtcccaccccccactaccaccacacccatcaaccagccacattcacgctactcccca c.*300
. . . . . . g.58271
gatctcttcccccattccttcttttgggctctagaaagtcttgcctcattgagtgttttt c.*360
. . . . . . g.58331
ccctagtgcgtagttggagtctgtccctgtcttggtgttaatgttgacattgttatataa c.*420
. . . . . . g.58391
taaatgataatatatttttttctttcaattttcttaatgggacccagtcccttatttggg c.*480
. . . . . . g.58451
gggaggtctgaggcaagtatatttcaaaatatgtacttgcgggattcccttcaagtaaac c.*540
. . . . . . g.58511
catccctgaaacctaaattcacgtttccccttgactaagaaaagcacctacctctgccat c.*600
. . . . . . g.58571
gtgatgtttctgaaaagcctctgtatgtccccatttgctttggttttgtcctgccttctc c.*660
. . . . . . g.58631
caatatcacgtgctcagttttgcctctacttacccatggagtcaggataacactgacgct c.*720
. . . . . . g.58691
ccctggcatcctatcttattcagccctaccatcttgccagctctgtctttccagctgtct c.*780
. . . . . . g.58751
gtcgctaaaacgtggcctatagcttcccttccggaaagcttgctttgaaaaacttaaaaa c.*840
. . . . . . g.58811
gcccccgtttacatgtaggcaggactgtgataacagtgcaagctctgtgttgacaagagt c.*900
. . . . . . g.58871
tgtggacaaaaagccaaaataaatattcttcctgattaaaaaaattttttttgaaaaaaa c.*960
. . . . . . g.58931
caaggccagccccaaccttccaaacctccatcaccaacaacccaaactggatgtcaagca c.*1020
. . . . . . g.58991
aaatgcacaattcctacagaagaggcaagacacagtcaccaatgatatctcgccaaagaa c.*1080
. . . . . . g.59051
accacgcccacaccaatgccaacacaaaactgtgtttactgaaagccgaaaacagtatta c.*1140
. . . . . . g.59111
aaaaaagtgtgtaagtaaagtgttatggtagggttcttcagatgtaatattttactggta c.*1200
. . . . . . g.59171
ctatttatttataaataggaattctaattaagtaataacatgaaatgaaacccagcatag c.*1260
. . . . . . g.59231
gagctggccaagagcttttaattttattgatactcaaaaccaagtttgtgtttttttgtt c.*1320
. . . . . . g.59291
tttttttgtttttttcctctttcgaatgtgctttgctttttttgattaaaaagaattttt c.*1380
. . . . . . g.59351
tttttccttttttataaacagaccctaataaagagaacagggtaagatgtgaggctgagt c.*1440
. . . . . . g.59411
gtgtttaagtacgtgagagagtgtgagtgtgtttgtaagtgagtgtccctatgcgattat c.*1500
. . . . . . g.59471
gtctctttacgttgctaaggggggagggtgaggattaagtactcgtgccttatatttgtg c.*1560
. . . . g.59513
tgccaattaatgcctaataaataccatgtgcttaaacaagta c.*1602
(downstream sequence)
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