(used for variant description)
(last modified December 23, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001065.3 in the TNFRSF1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007506.1, covering TNFRSF1A transcript NM_001065.3.
(upstream sequence)
g.4981
ctc c.-301
. . . . . . g.5041
ctccagctcttcctgtcccgctgttgcaacactgcctcactcttcccctcccaccttctc c.-241
. . . . . . g.5101
tcccctcctctctgctttaattttctcagaattctctggactgaggctccagttctggcc c.-181
. . . . . . g.5161
tttggggttcaagatcactgggaccaggccgtgatctctatgcccgagtctcaaccctca c.-121
. . . . . . g.5221
actgtcaccccaaggcacttgggacgtcctggacagaccgagtcccgggaagccccagca c.-61
. . . . . . g.5281
ctgccgctgccacactgccctgagcccaaatgggggagtgagaggccatagctgtctggc c.-1
. . . | 02 . . g.12872
ATGGGCCTCTCCACCGTGCCTGACCTGCTGCTGCCACTG | GTGCTCCTGGAGCTGTTGGTG c.60
M G L S T V P D L L L P L | V L L E L L V p.20
. . . . . . g.12932
GGAATATACCCCTCAGGGGTTATTGGACTGGTCCCTCACCTAGGGGACAGGGAGAAGAGA c.120
G I Y P S G V I G L V P H L G D R E K R p.40
. . . . . . g.12992
GATAGTGTGTGTCCCCAAGGAAAATATATCCACCCTCAAAATAATTCGATTTGCTGTACC c.180
D S V C P Q G K Y I H P Q N N S I C C T p.60
. | 03 . . . . . g.13277
AAGTGCCACAAAG | GAACCTACTTGTACAATGACTGTCCAGGCCCGGGGCAGGATACGGAC c.240
K C H K G | T Y L Y N D C P G P G Q D T D p.80
. . . . . . g.13337
TGCAGGGAGTGTGAGAGCGGCTCCTTCACCGCTTCAGAAAACCACCTCAGACACTGCCTC c.300
C R E C E S G S F T A S E N H L R H C L p.100
. . | 04 . . . . g.13617
AGCTGCTCCAAATGCCGAAAGG | AAATGGGTCAGGTGGAGATCTCTTCTTGCACAGTGGAC c.360
S C S K C R K E | M G Q V E I S S C T V D p.120
. . . . . . g.13677
CGGGACACCGTGTGTGGCTGCAGGAAGAACCAGTACCGGCATTATTGGAGTGAAAACCTT c.420
R D T V C G C R K N Q Y R H Y W S E N L p.140
. . . . . | 05 . g.13956
TTCCAGTGCTTCAATTGCAGCCTCTGCCTCAATGGGACCGTGCACCTCTCCT | GCCAGGAG c.480
F Q C F N C S L C L N G T V H L S C | Q E p.160
. . . . . . g.14016
AAACAGAACACCGTGTGCACCTGCCATGCAGGTTTCTTTCTAAGAGAAAACGAGTGTGTC c.540
K Q N T V C T C H A G F F L R E N E C V p.180
. | 06 . . . . . g.16218
TCCTGTAGTAA | CTGTAAGAAAAGCCTGGAGTGCACGAAGTTGTGCCTACCCCAGATTGAG c.600
S C S N | C K K S L E C T K L C L P Q I E p.200
. . | 07 . . . . g.16419
AATGTTAAGGGCACTGAGGACTCAG | GCACCACAGTGCTGTTGCCCCTGGTCATTTTCTTT c.660
N V K G T E D S G | T T V L L P L V I F F p.220
. . . . . . g.16479
GGTCTTTGCCTTTTATCCCTCCTCTTCATTGGTTTAATGTATCGCTACCAACGGTGGAAG c.720
G L C L L S L L F I G L M Y R Y Q R W K p.240
. | 08 . . | 09 . g.17041
TCCAAGCTCTACTCCATTG | TTTGTGGGAAATCGACACCTGAAAAAGAG | GGGGAGCTTGAA c.780
S K L Y S I V | C G K S T P E K E | G E L E p.260
. . . . . . g.17101
GGAACTACTACTAAGCCCCTGGCCCCAAACCCAAGCTTCAGTCCCACTCCAGGCTTCACC c.840
G T T T K P L A P N P S F S P T P G F T p.280
. . . . . . g.17161
CCCACCCTGGGCTTCAGTCCCGTGCCCAGTTCCACCTTCACCTCCAGCTCCACCTATACC c.900
P T L G F S P V P S S T F T S S S T Y T p.300
. . . . . . g.17221
CCCGGTGACTGTCCCAACTTTGCGGCTCCCCGCAGAGAGGTGGCACCACCCTATCAGGGG c.960
P G D C P N F A A P R R E V A P P Y Q G p.320
. . . . . . g.17281
GCTGACCCCATCCTTGCGACAGCCCTCGCCTCCGACCCCATCCCCAACCCCCTTCAGAAG c.1020
A D P I L A T A L A S D P I P N P L Q K p.340
. . . | 10. . . g.17496
TGGGAGGACAGCGCCCACAAGCCACAGAGCCTAGACA | CTGATGACCCCGCGACGCTGTAC c.1080
W E D S A H K P Q S L D T | D D P A T L Y p.360
. . . . . . g.17556
GCCGTGGTGGAGAACGTGCCCCCGTTGCGCTGGAAGGAATTCGTGCGGCGCCTAGGGCTG c.1140
A V V E N V P P L R W K E F V R R L G L p.380
. . . . . . g.17616
AGCGACCACGAGATCGATCGGCTGGAGCTGCAGAACGGGCGCTGCCTGCGCGAGGCGCAA c.1200
S D H E I D R L E L Q N G R C L R E A Q p.400
. . . . . . g.17676
TACAGCATGCTGGCGACCTGGAGGCGGCGCACGCCGCGGCGCGAGGCCACGCTGGAGCTG c.1260
Y S M L A T W R R R T P R R E A T L E L p.420
. . . . . . g.17736
CTGGGACGCGTGCTCCGCGACATGGACCTGCTGGGCTGCCTGGAGGACATCGAGGAGGCG c.1320
L G R V L R D M D L L G C L E D I E E A p.440
. . . . g.17784
CTTTGCGGCCCCGCCGCCCTCCCGCCCGCGCCCAGTCTTCTCAGATGA c.1368
L C G P A A L P P A P S L L R X p.455
. . . . . . g.17844
ggctgcgcccctgcgggcagctctaaggaccgtcctgcgagatcgccttccaaccccact c.*60
. . . . . . g.17904
tttttctggaaaggaggggtcctgcaggggcaagcaggagctagcagccgcctacttggt c.*120
. . . . . . g.17964
gctaacccctcgatgtacatagcttttctcagctgcctgcgcgccgccgacagtcagcgc c.*180
. . . . . . g.18024
tgtgcgcgcggagagaggtgcgccgtgggctcaagagcctgagtgggtggtttgcgagga c.*240
. . . . . . g.18084
tgagggacgctatgcctcatgcccgttttgggtgtcctcaccagcaaggctgctcggggg c.*300
. . . . . . g.18144
cccctggttcgtccctgagcctttttcacagtgcataagcagttttttttgtttttgttt c.*360
. . . . . . g.18204
tgttttgttttgtttttaaatcaatcatgttacactaatagaaacttggcactcctgtgc c.*420
. . . . . . g.18264
cctctgcctggacaagcacatagcaagctgaactgtcctaaggcaggggcgagcacggaa c.*480
. . . . . . g.18324
caatggggccttcagctggagctgtggacttttgtacatacactaaaattctgaagttaa c.*540
. g.18339
agctctgctcttgga c.*555
(downstream sequence)
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