(used for variant description)
(last modified July 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_001256054.1 in the C9orf72 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering C9orf72 transcript NM_001256054.1.
(upstream sequence)
. . g.5022
acgtaacctacggtgtcccgct c.-181
. . . . . . g.5082
aggaaagagaggtgcgtcaaacagcgacaagttccgcccacgtaaaagatgacgcttggt c.-121
. . . . . . g.5142
gtgtcagccgtccctgctgcccggttgcttctcttttgggggcggggtctagcaagagca c.-61
. . | 02 . . . . g.11746
ggtgtgggtttaggag | atatctccggagcatttggataatgtgacagttggaatgcagtg c.-1
. . . . . . g.11806
ATGTCGACTCTTTGCCCACCGCCATCTCCAGCTGTTGCCAAGACAGAGATTGCTTTAAGT c.60
M S T L C P P P S P A V A K T E I A L S p.20
. . . . . . g.11866
GGCAAATCACCTTTATTAGCAGCTACTTTTGCTTACTGGGACAATATTCTTGGTCCTAGA c.120
G K S P L L A A T F A Y W D N I L G P R p.40
. . . . . . g.11926
GTAAGGCACATTTGGGCTCCAAAGACAGAACAGGTACTTCTCAGTGATGGAGAAATAACT c.180
V R H I W A P K T E Q V L L S D G E I T p.60
. . . . . . g.11986
TTTCTTGCCAACCACACTCTAAATGGAGAAATCCTTCGAAATGCAGAGAGTGGTGCTATA c.240
F L A N H T L N G E I L R N A E S G A I p.80
. . . . . . g.12046
GATGTAAAGTTTTTTGTCTTGTCTGAAAAGGGAGTGATTATTGTTTCATTAATCTTTGAT c.300
D V K F F V L S E K G V I I V S L I F D p.100
. . . . . . g.12106
GGAAACTGGAATGGGGATCGCAGCACATATGGACTATCAATTATACTTCCACAGACAGAA c.360
G N W N G D R S T Y G L S I I L P Q T E p.120
. . . . . . g.12166
CTTAGTTTCTACCTCCCACTTCATAGAGTGTGTGTTGATAGATTAACACATATAATCCGG c.420
L S F Y L P L H R V C V D R L T H I I R p.140
. . | 03 . . . . g.13312
AAAGGAAGAATATGGATGCATAAG | GAAAGACAAGAAAATGTCCAGAAGATTATCTTAGAA c.480
K G R I W M H K | E R Q E N V Q K I I L E p.160
. . | 04 . . . . g.16426
GGCACAGAGAGAATGGAAGATCAG | GGTCAGAGTATTATTCCAATGCTTACTGGAGAAGTG c.540
G T E R M E D Q | G Q S I I P M L T G E V p.180
. . . . . . g.16486
ATTCCTGTAATGGAACTGCTTTCATCTATGAAATCACACAGTGTTCCTGAAGAAATAGAT c.600
I P V M E L L S S M K S H S V P E E I D p.200
| 05 . . . . . . g.17277
| ATAGCTGATACAGTACTCAATGATGATGATATTGGTGACAGCTGTCATGAAGGCTTTCTT c.660
| I A D T V L N D D D I G D S C H E G F L p.220
| 06 . . . . . . g.18622
CTCAA | TGCCATCAGCTCACACTTGCAAACCTGTGGCTGTTCCGTTGTAGTAGGTAGCAGT c.720
L N | A I S S H L Q T C G C S V V V G S S p.240
. | 07 . . . . g.20301
GCAGAGAAAGTAAATAAG | ATAGTCAGAACATTATGCCTTTTTCTGACTCCAGCAGAGAGA c.780
A E K V N K | I V R T L C L F L T P A E R p.260
. . . . . . g.20361
AAATGCTCCAGGTTATGTGAAGCAGAATCATCATTTAAATATGAGTCAGGGCTCTTTGTA c.840
K C S R L C E A E S S F K Y E S G L F V p.280
. | 08 . . . . . g.22115
CAAGGCCTGCTAAAG | GATTCAACTGGAAGCTTTGTGCTGCCTTTCCGGCAAGTCATGTAT c.900
Q G L L K | D S T G S F V L P F R Q V M Y p.300
. . . . . . g.22175
GCTCCATATCCCACCACACACATAGATGTGGATGTCAATACTGTGAAGCAGATGCCACCC c.960
A P Y P T T H I D V D V N T V K Q M P P p.320
. . . . . . g.22235
TGTCATGAACATATTTATAATCAGCGTAGATACATGAGATCCGAGCTGACAGCCTTCTGG c.1020
C H E H I Y N Q R R Y M R S E L T A F W p.340
. . . . . . g.22295
AGAGCCACTTCAGAAGAAGACATGGCTCAGGATACGATCATCTACACTGACGAAAGCTTT c.1080
R A T S E E D M A Q D T I I Y T D E S F p.360
. | 09 . . . . . g.28208
ACTCCTGATTT | GAATATTTTTCAAGATGTCTTACACAGAGACACTCTAGTGAAAGCCTTC c.1140
T P D L | N I F Q D V L H R D T L V K A F p.380
| 10 . . . . . g.30251
CTGGATCAG | GTCTTTCAGCTGAAACCTGGCTTATCTCTCAGAAGTACTTTCCTTGCACAG c.1200
L D Q | V F Q L K P G L S L R S T F L A Q p.400
. . . . . | 11 g.30445
TTTCTACTTGTCCTTCACAGAAAAGCCTTGACACTAATAAAATATATAGAAGACGATAC | G c.1260
F L L V L H R K A L T L I K Y I E D D T | p.420
. . . . . . g.30505
CAGAAGGGAAAAAAGCCCTTTAAATCTCTTCGGAACCTGAAGATAGACCTTGATTTAACA c.1320
Q K G K K P F K S L R N L K I D L D L T p.440
. . . . . . g.30565
GCAGAGGGCGATCTTAACATAATAATGGCTCTGGCTGAGAAAATTAAACCAGGCCTACAC c.1380
A E G D L N I I M A L A E K I K P G L H p.460
. . . . . . g.30625
TCTTTTATCTTTGGAAGACCTTTCTACACTAGTGTGCAAGAACGAGATGTTCTAATGACT c.1440
S F I F G R P F Y T S V Q E R D V L M T p.480
g.30631
TTTTAA c.1446
F X p.481
. . . . . . g.30691
atgtgtaacttaataagcctattccatcacaatcatgatcgctggtaaagtagctcagtg c.*60
. . . . . . g.30751
gtgtggggaaacgttcccctggatcatactccagaattctgctctcagcaattgcagtta c.*120
. . . . . . g.30811
agtaagttacactacagttctcacaagagcctgtgaggggatgtcaggtgcatcattaca c.*180
. . . . . . g.30871
ttgggtgtctcttttcctagatttatgcttttgggatacagacctatgtttacaatataa c.*240
. . . . . . g.30931
taaatattattgctatcttttaaagatataataataggatgtaaacttgaccacaactac c.*300
. . . . . . g.30991
tgtttttttgaaatacatgattcatggtttacatgtgtcaaggtgaaatctgagttggct c.*360
. . . . . . g.31051
tttacagatagttgactttctatcttttggcattctttggtgtgtagaattactgtaata c.*420
. . . . . . g.31111
cttctgcaatcaactgaaaactagagcctttaaatgatttcaattccacagaaagaaagt c.*480
. . . . . . g.31171
gagcttgaacataggatgagctttagaaagaaaattgatcaagcagatgtttaattggaa c.*540
. . . . . . g.31231
ttgattattagatcctactttgtggatttagtccctgggattcagtctgtagaaatgtct c.*600
. . . . . . g.31291
aatagttctctatagtccttgttcctggtgaaccacagttagggtgttttgtttatttta c.*660
. . . . . . g.31351
ttgttcttgctattgttgatattctatgtagttgagctctgtaaaaggaaattgtatttt c.*720
. . . . . . g.31411
atgttttagtaattgttgccaactttttaaattaattttcattatttttgagccaaattg c.*780
. . . . . . g.31471
aaatgtgcacctcctgtgccttttttctccttagaaaatctaattacttggaacaagttc c.*840
. . . . . . g.31531
agatttcactggtcagtcattttcatcttgttttcttcttgctaagtcttaccatgtacc c.*900
. . . . . . g.31591
tgctttggcaatcattgcaactctgagattataaaatgccttagagaatatactaactaa c.*960
. . . . . . g.31651
taagatctttttttcagaaacagaaaatagttccttgagtacttccttcttgcatttctg c.*1020
. . . . . . g.31711
cctatgtttttgaagttgttgctgtttgcctgcaataggctataaggaatagcaggagaa c.*1080
. . . . . . g.31771
attttactgaagtgctgttttcctaggtgctactttggcagagctaagttatcttttgtt c.*1140
. . . . . . g.31831
ttcttaatgcgtttggaccattttgctggctataaaataactgattaatataattctaac c.*1200
. . . . . . g.31891
acaatgttgacattgtagttacacaaacacaaataaatattttatttaaaattctggaag c.*1260
. . . . . . g.31951
taatataaaagggaaaatatatttataagaaagggataaaggtaatagagcccttctgcc c.*1320
. . . . . . g.32011
ccccacccaccaaatttacacaacaaaatgacatgttcgaatgtgaaaggtcataatagc c.*1380
. . . . . . g.32071
tttcccatcatgaatcagaaagatgtggacagcttgatgttttagacaaccactgaacta c.*1440
. . . . . . g.32131
gatgactgttgtactgtagctcagtcatttaaaaaatatataaatactaccttgtagtgt c.*1500
. . . . . . g.32191
cccatactgtgttttttacatggtagattcttatttaagtgctaactggttattttcttt c.*1560
. . . . . . g.32251
ggctggtttattgtactgttatacagaatgtaagttgtacagtgaaataagttattaaag c.*1620
. . . . . . g.32311
catgtgtaaacattgttatatatcttttctcctaaatggagaattttgaataaaatatat c.*1680
. g.32322
ttgaaattttg c.*1691
(downstream sequence)
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