(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006912.5 in the RIT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033885.1, covering RIT1 transcript NM_006912.5.
(upstream sequence)
. . g.5023
gactcgggcgccggtggcgccat c.-181
. . . . . . g.5083
cttactcggttgcgggaggggtcacaggtcagtgccggagcctccgcgagtgaaggaaga c.-121
. . . . . . g.5143
cgaagtgcgtgacccgaccggctgtggtgttccagtccccactgaccagtaggagcagca c.-61
. . | 02 . . . . g.5641
gggcgtcggcttgtgag | gtggcttttcctcggggcaaccgaggaaggccccaagaggaca c.-1
. . . . . . g.5701
ATGGATTCTGGAACTCGCCCAGTTGGTAGCTGCTGTAGCAGCCCCGCTGGGCTCTCACGG c.60
M D S G T R P V G S C C S S P A G L S R p.20
. . . . | 03 . . g.5910
GAGTACAAACTAGTGATGCTGGGTGCTGGTGGTGTAGGGAAGAGTG | CCATGACCATGCAG c.120
E Y K L V M L G A G G V G K S A | M T M Q p.40
. . . . | 04 . . g.11615
TTCATCAGCCACCGATTCCCAGAAGATCATGATCCCACCATTG | AAGATGCTTATAAGATC c.180
F I S H R F P E D H D P T I E | D A Y K I p.60
. . . . . | 05. g.11903
AGGATCCGTATTGATGATGAGCCTGCCAATCTGGACATTTTGGATACAGCTGGACAG | GCA c.240
R I R I D D E P A N L D I L D T A G Q | A p.80
. . . . . . g.11963
GAGTTTACAGCCATGCGGGACCAGTATATGAGGGCAGGAGAAGGGTTTATCATCTGTTAC c.300
E F T A M R D Q Y M R A G E G F I I C Y p.100
. . . . . . g.12023
TCTATCACGGATCGTCGAAGTTTCCATGAAGTTCGTGAGTTTAAACAGCTTATTTATCGA c.360
S I T D R R S F H E V R E F K Q L I Y R p.120
. . . . . . g.12083
GTCCGACGTACTGACGATACACCTGTGGTTCTTGTGGGAAACAAGTCAGACCTCAAACAG c.420
V R R T D D T P V V L V G N K S D L K Q p.140
| 06 . . . . . g.15835
CTAAGACAG | GTCACCAAGGAAGAAGGATTGGCCTTGGCCCGAGAATTCAGCTGTCCCTTT c.480
L R Q | V T K E E G L A L A R E F S C P F p.160
. . . . . . g.15895
TTTGAGACATCTGCTGCATACCGCTACTATATTGATGATGTTTTCCATGCCCTTGTACGG c.540
F E T S A A Y R Y Y I D D V F H A L V R p.180
. . . . . . g.15955
GAGATACGTAGGAAAGAAAAGGAGGCAGTACTGGCCATGGAGAAAAAATCTAAGCCCAAA c.600
E I R R K E K E A V L A M E K K S K P K p.200
. . . . . . g.16015
AACAGTGTATGGAAGAGGCTAAAATCACCATTCCGGAAGAAGAAAGATTCAGTAACTTGA c.660
N S V W K R L K S P F R K K K D S V T X p.219
. . . . . . g.16075
agagaagatgtgaagtgtttatctgtgaactgcagtgctgtatcaaagcagtccagtaac c.*60
. . . . . . g.16135
ctgcagtactgagtatggtgcttgctctttcacttaactgataagagggacatgcctact c.*120
. . . . . . g.16195
aggagtttttaatgatgtggtatttaaagtattgtctcttagttaagtatgatttattaa c.*180
. . . . . . g.16255
cccagtggagcactgtctgcttttaaattgtcacattagaatttgttctaccaatgtttt c.*240
. . . . . . g.16315
gggttctgttgcgctattaattaatgtaaatttgtttatacccaggagaatatgtatacc c.*300
. . . . . . g.16375
atgtgtgtttgactaagttcacaagggaagtttttggctctgcactccacattatccttt c.*360
. . . . . . g.16435
aatttcaatttcctgggactatcccagagaaagacctcagtctcttctattcacactatg c.*420
. . . . . . g.16495
cttcctagagacagaacaaaaatcatgtagggaaattggggctaatgagatcagtgccaa c.*480
. . . . . . g.16555
atttcagcagatacctgtgaggctgacacctgttgcagactatggagtggtgagatttgg c.*540
. . . . . . g.16615
gaaagttgggctatatgtttgcagggacttaaaaaggtaggttcagaacagtattctcag c.*600
. . . . . . g.16675
tacaagcttcgcttttctaagaagtacacatttggcccaaattcaccgggataagtgaga c.*660
. . . . . . g.16735
acagccagaagcataaaatgtgatgaaggtttctcctgggaaccttattttactcttcat c.*720
. . . . . . g.16795
ttcagggttttctttttttttttaccttcaaaggtagacattttgggaatcataactgta c.*780
. . . . . . g.16855
ttactaaacgtgtttaatcaaaattcatagttggatcagccattgccttgtacaggttta c.*840
. . . . . . g.16915
ttttttccccacagacgcacacaccaacacatttatattcattgcttcctcccactttgt c.*900
. . . . . . g.16975
gctctgtaaaagagctacagctggcaagatgttttttcggcccttcatcactgattgcat c.*960
. . . . . . g.17035
tttccatacagaagagacatcaggggtgtgggtaaaattgtgtgtgtgcctccttgacgt c.*1020
. . . . . . g.17095
ggacaatcactagactcagtgctctgagaaaatctgctatttctgttgaatgggtcagtc c.*1080
. . . . . . g.17155
ttaaagctttaaaattcacataggtggagtttcccatctgaagatttctttacaaggact c.*1140
. . . . . . g.17215
ttgctaagttcatctcagggttatctgagccttgaccaagtttatcctaagggaatacca c.*1200
. . . . . . g.17275
ctttgctccctgtgcatagtttaggaactgtagtcctaggaggaaacagctttaaatatt c.*1260
. . . . . . g.17335
ggtagtgagttgtctaagatcaggactgttttgatatctgaccttgttatatgcggagag c.*1320
. . . . . . g.17395
taaatgcaaaaatgctaagagtaatgcatcatgtattgaatattaagtgtcactgaagca c.*1380
. . . . . . g.17455
atgtttgtgttgactagaaacgtaagatgacttgtgtagcacctctttataagcacacag c.*1440
. . . . . . g.17515
ctcatcttaatattttccatttttattagaggaagtaggacagagttgtgtttttcttta c.*1500
. . . . . . g.17575
taaacaaatgataaactagcttttttaaaaagtgactgttagaacttttttagctctgag c.*1560
. . . . . . g.17635
tagtggtccctttttaaactcctggaaacatttttgttaccaaataaatcatgttttatg c.*1620
. . . . . . g.17695
gtactcagccatccaaaagtgaaagacctagcatttgattctgtgcaggacacaaatctc c.*1680
. . . . . . g.17755
acaggaactatagcactttggaaaagcatcaaagtagaaaagaaatacagtgcaattcta c.*1740
. . . . . . g.17815
ttatgagaatgttttacatttaaactggtttagcaccttttaagtttaaagcccatagct c.*1800
. . . . . . g.17875
tcttattactagtgacctagggaattgttattaacattaagagatatatatatatatata c.*1860
. . . . . . g.17935
tatatatatttttttttttttttttttttttttttaaatagagatgaggtttcactatgt c.*1920
. . . . . . g.17995
tgcccaggctgatctcgaactcctaggctcaagcaatcctcccaatatgctgggattaca c.*1980
. . . . . . g.18055
ggcatgagccaccacctggcccaagcaagaaattgacactatatagttatttaaggtagt c.*2040
. . . . . . g.18115
caggcagtagaaacattgccagaaggatagaaaggaatttggattatatataaggaaaat c.*2100
. . . . . . g.18175
aacaaatcggtgtttttaagactatcactgtcatatattagatccttgtattagtccatc c.*2160
. . . . . . g.18235
cattaatattagttctattcgtggtgctaggtagcttgacaggtatgatatgcataagtc c.*2220
. . . . . . g.18295
atagctctattcttagtgtcataaagtgtagctaatttataagctctaagtaatcagctt c.*2280
. . . . . . g.18355
tatctaatttgagggcattaaaattactgcctagaactttgagaagagaaaaattcaggg c.*2340
. . . . . . g.18415
ataagttgaaaggcactggaactgttcatgtccataccagaccggtaaattataagatcc c.*2400
. . . . . . g.18475
agatgttagtgtctagaattagctgtttagaattcagaggggacatatgttttaactttg c.*2460
. . . . . . g.18535
tcatatattagcaagaattggtctactgtgatgtttggggaggaggagggggggataatt c.*2520
. . . . . . g.18595
tttttaatgcacttgtatgtgaagacagtttgtatgacataatacaaaacttttaaacaa c.*2580
(downstream sequence)
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