(used for variant description)
(last modified August 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_003194.4 in the TBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008165.1, covering TBP transcript NM_003194.4.
(upstream sequence)
. . . g.4989
ggcggaagtgacattatcaacgcgcgccaggggttcagt c.-241
. . . . . . g.5049
gaggtcgggcaggttcgctgtggcgggcgcctgggccgccggctgtttaacttcgcttcc c.-181
. . . . | 02 . . g.7527
gctggcccatagtgatctttgcagtgacccag | catcactgtttcttggcgtgtgaagata c.-121
. . . . . . g.7587
acccaaggaattgaggaagttgctgagaagagtgtgctggagatgctctaggaaaaaatt c.-61
. . . . . . g.7647
gaatagtgagacgagttccagcgcaagggtttctggtttgccaagaagaaagtgaacatc c.-1
. . . . . | 03 . g.12414
ATGGATCAGAACAACAGCCTGCCACCTTACGCTCAGGGCTTGGCCTCCCCTCAG | GGTGCC c.60
M D Q N N S L P P Y A Q G L A S P Q | G A p.20
. . . . . . g.12474
ATGACTCCCGGAATCCCTATCTTTAGTCCAATGATGCCTTATGGCACTGGACTGACCCCA c.120
M T P G I P I F S P M M P Y G T G L T P p.40
. . . . . . g.12534
CAGCCTATTCAGAACACCAATAGTCTGTCTATTTTGGAAGAGCAACAAAGGCAGCAGCAG c.180
Q P I Q N T N S L S I L E E Q Q R Q Q Q p.60
. . . . . . g.12594
CAACAACAACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAG c.240
Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q p.80
. . . . . . g.12654
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGGCAGTGGCAGCTGCA c.300
Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q A V A A A p.100
. . . . . . g.12714
GCCGTTCAGCAGTCAACGTCCCAGCAGGCAACACAGGGAACCTCAGGCCAGGCACCACAG c.360
A V Q Q S T S Q Q A T Q G T S G Q A P Q p.120
. . . . . . g.12774
CTCTTCCACTCACAGACTCTCACAACTGCACCCTTGCCGGGCACCACTCCACTGTATCCC c.420
L F H S Q T L T T A P L P G T T P L Y P p.140
. . . . . . g.12834
TCCCCCATGACTCCCATGACCCCCATCACTCCTGCCACGCCAGCTTCGGAGAGTTCTGGG c.480
S P M T P M T P I T P A T P A S E S S G p.160
. | 04. . . . . g.15205
ATTGTACCGCAGCTGCA | AAATATTGTATCCACAGTGAATCTTGGTTGTAAACTTGACCTA c.540
I V P Q L Q | N I V S T V N L G C K L D L p.180
. . . . | 05 . . g.17550
AAGACCATTGCACTTCGTGCCCGAAACGCCGAATATAATCCCAAG | CGGTTTGCTGCGGTA c.600
K T I A L R A R N A E Y N P K | R F A A V p.200
. . . . . . g.17610
ATCATGAGGATAAGAGAGCCACGAACCACGGCACTGATTTTCAGTTCTGGGAAAATGGTG c.660
I M R I R E P R T T A L I F S S G K M V p.220
. | 06. . . . . g.20272
TGCACAGGAGCCAAGAG | TGAAGAACAGTCCAGACTGGCAGCAAGAAAATATGCTAGAGTT c.720
C T G A K S | E E Q S R L A A R K Y A R V p.240
. . . . . . g.20332
GTACAGAAGTTGGGTTTTCCAGCTAAGTTCTTGGACTTCAAGATTCAGAATATGGTGGGG c.780
V Q K L G F P A K F L D F K I Q N M V G p.260
. . . . . . g.20392
AGCTGTGATGTGAAGTTTCCTATAAGGTTAGAAGGCCTTGTGCTCACCCACCAACAATTT c.840
S C D V K F P I R L E G L V L T H Q Q F p.280
| 07 . . . . . . g.22082
AGTAG | TTATGAGCCAGAGTTATTTCCTGGTTTAATCTACAGAATGATCAAACCCAGAATT c.900
S S | Y E P E L F P G L I Y R M I K P R I p.300
. . . . | 08 . . g.22823
GTTCTCCTTATTTTTGTTTCTGGAAAAGTTGTATTAACAG | GTGCTAAAGTCAGAGCAGAA c.960
V L L I F V S G K V V L T G | A K V R A E p.320
. . . . . . g.22883
ATTTATGAAGCATTTGAAAACATCTACCCTATTCTAAAGGGATTCAGGAAGACGACGTAA c.1020
I Y E A F E N I Y P I L K G F R K T T X p.339
. . . . . . g.22943
tggctctcatgtacccttgcctcccccacccccttctttttttttttttaaacaaatcag c.*60
. . . . . . g.23003
tttgttttggtacctttaaatggtggtgttgtgagaagatggatgttgagttgcagggtg c.*120
. . . . . . g.23063
tggcaccaggtgatgcccttctgtaagtgcccaccgcgggatgccgggaaggggcattat c.*180
. . . . . . g.23123
ttgtgcactgagaacaccgcgcagcgtgactgtgagttgctcataccgtgctgctatctg c.*240
. . . . . . g.23183
ggcagcgctgcccatttatttatatgtagattttaaacactgctgttgacaagttggttt c.*300
. . . . . . g.23243
gagggagaaaactttaagtgttaaagccacctctataattgattggactttttaatttta c.*360
. . . . . . g.23303
atgtttttccccatgaaccacagtttttatatttctaccagaaaagtaaaaatctttttt c.*420
. . . . . . g.23363
aaaagtgttgtttttctaatttataactcctaggggttatttctgtgccagacacattcc c.*480
. . . . . . g.23423
acctctccagtattgcaggacagaatatatgtgttaatgaaaatgaatggctgtacatat c.*540
. . . . . . g.23483
ttttttctttcttcagagtactctgtacaataaatgcagtttataaaagtgttagattgt c.*600
g.23488
tgtta c.*605
(downstream sequence)
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