(used for variant description)
(last modified December 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000660.4 in the TGFB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013364.1, covering TGFB1 transcript NM_000660.4.
(upstream sequence)
. . . . g.5042
ccccgccgccgccgcccttcgcgccctgggccatctccctcc c.-841
. . . . . . g.5102
cacctccctccgcggagcagccagacagcgagggccccggccgggggcaggggggacgcc c.-781
. . . . . . g.5162
ccgtccggggcacccccccggctctgagccgcccgcggggccggcctcggcccggagcgg c.-721
. . . . . . g.5222
aggaaggagtcgccgaggagcagcctgaggccccagagtctgagacgagccgccgccgcc c.-661
. . . . . . g.5282
cccgccactgcggggaggagggggaggaggagcgggaggagggacgagctggtcgggaga c.-601
. . . . . . g.5342
agaggaaaaaaacttttgagacttttccgttgccgctgggagccggaggcgcggggacct c.-541
. . . . . . g.5402
cttggcgcgacgctgccccgcgaggaggcaggacttggggaccccagaccgcctcccttt c.-481
. . . . . . g.5462
gccgccggggacgcttgctccctccctgccccctacacggcgtccctcaggcgcccccat c.-421
. . . . . . g.5522
tccggaccagccctcgggagtcgccgacccggcctcccgcaaagacttttccccagacct c.-361
. . . . . . g.5582
cgggcgcaccccctgcacgccgccttcatccccggcctgtctcctgagcccccgcgcatc c.-301
. . . . . . g.5642
ctagaccctttctcctccaggagacggatctctctccgacctgccacagatcccctattc c.-241
. . . . . . g.5702
aagaccacccaccttctggtaccagatcgcgcccatctaggttatttccgtgggatactg c.-181
. . . . . . g.5762
agacacccccggtccaagcctcccctccaccactgcgcccttctccctgaggacctcagc c.-121
. . . . . . g.5822
tttccctcgaggccctcctaccttttgccgggagacccccagcccctgcaggggcggggc c.-61
. . . . . . g.5882
ctccccaccacaccagccctgttcgcgctctcggcagtgccggggggcgccgcctccccc c.-1
. . . . . . g.5942
ATGCCGCCCTCCGGGCTGCGGCTGCTGCCGCTGCTGCTACCGCTGCTGTGGCTACTGGTG c.60
M P P S G L R L L P L L L P L L W L L V p.20
. . . . . . g.6002
CTGACGCCTGGCCGGCCGGCCGCGGGACTATCCACCTGCAAGACTATCGACATGGAGCTG c.120
L T P G R P A A G L S T C K T I D M E L p.40
. . . . . . g.6062
GTGAAGCGGAAGCGCATCGAGGCCATCCGCGGCCAGATCCTGTCCAAGCTGCGGCTCGCC c.180
V K R K R I E A I R G Q I L S K L R L A p.60
. . . . . . g.6122
AGCCCCCCGAGCCAGGGGGAGGTGCCGCCCGGCCCGCTGCCCGAGGCCGTGCTCGCCCTG c.240
S P P S Q G E V P P G P L P E A V L A L p.80
. . . . . . g.6182
TACAACAGCACCCGCGACCGGGTGGCCGGGGAGAGTGCAGAACCGGAGCCCGAGCCTGAG c.300
Y N S T R D R V A G E S A E P E P E P E p.100
. . . . . | 02 . g.10476
GCCGACTACTACGCCAAGGAGGTCACCCGCGTGCTAATGGTGGAAACCCACAACG | AAATC c.360
A D Y Y A K E V T R V L M V E T H N E | I p.120
. . . . . . g.10536
TATGACAAGTTCAAGCAGAGTACACACAGCATATATATGTTCTTCAACACATCAGAGCTC c.420
Y D K F K Q S T H S I Y M F F N T S E L p.140
. . . . . . g.10596
CGAGAAGCGGTACCTGAACCCGTGTTGCTCTCCCGGGCAGAGCTGCGTCTGCTGAGGCTC c.480
R E A V P E P V L L S R A E L R L L R L p.160
. . . | 03 . . . g.14086
AAGTTAAAAGTGGAGCAGCACGTGGAGCTGTACCAG | AAATACAGCAACAATTCCTGGCGA c.540
K L K V E Q H V E L Y Q | K Y S N N S W R p.180
. . . . . . g.14146
TACCTCAGCAACCGGCTGCTGGCACCCAGCGACTCGCCAGAGTGGTTATCTTTTGATGTC c.600
Y L S N R L L A P S D S P E W L S F D V p.200
. . . | 04 . . . g.16705
ACCGGAGTTGTGCGGCAGTGGTTGAGCCGTGGAG | GGGAAATTGAGGGCTTTCGCCTTAGC c.660
T G V V R Q W L S R G G | E I E G F R L S p.220
. . . . . | 05 . g.16904
GCCCACTGCTCCTGTGACAGCAGGGATAACACACTGCAAGTGGACATCAACG | GGTTCACT c.720
A H C S C D S R D N T L Q V D I N G | F T p.240
. . . . . . g.16964
ACCGGCCGCCGAGGTGACCTGGCCACCATTCATGGCATGAACCGGCCTTTCCTGCTTCTC c.780
T G R R G D L A T I H G M N R P F L L L p.260
. . . . . . g.17024
ATGGCCACCCCGCTGGAGAGGGCCCAGCATCTGCAAAGCTCCCGGCACCGCCGAGCCCTG c.840
M A T P L E R A Q H L Q S S R H R R A L p.280
. . | 06 . . . . g.26685
GACACCAACTATTGCTTCAG | CTCCACGGAGAAGAACTGCTGCGTGCGGCAGCTGTACATT c.900
D T N Y C F S | S T E K N C C V R Q L Y I p.300
. . . . . . g.26745
GACTTCCGCAAGGACCTCGGCTGGAAGTGGATCCACGAGCCCAAGGGCTACCATGCCAAC c.960
D F R K D L G W K W I H E P K G Y H A N p.320
. . . . . | 07 . g.27722
TTCTGCCTCGGGCCCTGCCCCTACATTTGGAGCCTGGACACGCAGTACAGCAAG | GTCCTG c.1020
F C L G P C P Y I W S L D T Q Y S K | V L p.340
. . . . . . g.27782
GCCCTGTACAACCAGCATAACCCGGGCGCCTCGGCGGCGCCGTGCTGCGTGCCGCAGGCG c.1080
A L Y N Q H N P G A S A A P C C V P Q A p.360
. . . . . . g.27842
CTGGAGCCGCTGCCCATCGTGTACTACGTGGGCCGCAAGCCCAAGGTGGAGCAGCTGTCC c.1140
L E P L P I V Y Y V G R K P K V E Q L S p.380
. . . g.27875
AACATGATCGTGCGCTCCTGCAAGTGCAGCTGA c.1173
N M I V R S C K C S X p.390
. . . . . . g.27935
ggtcccgccccgccccgccccgccccggcaggcccggccccaccccgccccgcccccgct c.*60
. . . . . . g.27995
gccttgcccatgggggctgtatttaaggacacccgtgccccaagcccacctggggcccca c.*120
. . g.28020
ttaaagatggagagaggactgcgga c.*145
(downstream sequence)
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