(used for variant description)
(last modified March 1, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001190455.2 in the CHRNA7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering CHRNA7 transcript NM_001190455.2.
(upstream sequence)
. . . . . g.5052
tccttaaaggcgcgcgagccgagcggcgaggtgcctctgtggccgcaggcgc c.-61
. . . . . . g.5112
aggcccgggcgacagccgagacgtggagcgcgccggctcgctgcagctccgggactcaac c.-1
. . . . . . g.5172
ATGCGCTGCTCGCCGGGAGGCGTCTGGCTGGCGCTGGCCGCGTCGCTCCTGCACGGTAAA c.60
M R C S P G G V W L A L A A S L L H G K p.20
. . . . . . g.5232
GCCACTGCCTCCCCGCCCTCCACTCCTCCGTGGGATCCCGGGCACATCCCGGGCGCCTCT c.120
A T A S P P S T P P W D P G H I P G A S p.40
. . | 02 . . . . g.5453
GTGCGCCCCGCGCCTGGGCCAG | TGTCCCTGCAAGGCGAGTTCCAGAGGAAGCTTTACAAG c.180
V R P A P G P V | S L Q G E F Q R K L Y K p.60
. . . . . . g.5513
GAGCTGGTCAAGAACTACAATCCCTTGGAGAGGCCCGTGGCCAATGACTCGCAACCACTC c.240
E L V K N Y N P L E R P V A N D S Q P L p.80
. . . . | 03 . . g.75838
ACCGTCTACTTCTCCCTGAGCCTCCTGCAGATCATGGACGTG | GATGAGAAGAACCAAGTT c.300
T V Y F S L S L L Q I M D V | D E K N Q V p.100
. . | 04. . . . g.86338
TTAACCACCAACATTTGGCTGCAAATG | TCTTGGACAGATCACTATTTACAGTGGAATGTG c.360
L T T N I W L Q M | S W T D H Y L Q W N V p.120
. . . . . . g.86398
TCAGAATATCCAGGGGTGAAGACTGTTCGTTTCCCAGATGGCCAGATTTGGAAACCAGAC c.420
S E Y P G V K T V R F P D G Q I W K P D p.140
. | 05. . . . . g.128465
ATTCTTCTCTATAACAG | TGCTGATGAGCGCTTTGACGCCACATTCCACACTAACGTGTTG c.480
I L L Y N S | A D E R F D A T F H T N V L p.160
. . . | 06. . . g.132146
GTGAATTCTTCTGGGCATTGCCAGTACCTGCCTCCAG | GCATATTCAAGAGTTCCTGCTAC c.540
V N S S G H C Q Y L P P G | I F K S S C Y p.180
. . . . . . g.132206
ATCGATGTACGCTGGTTTCCCTTTGATGTGCAGCACTGCAAACTGAAGTTTGGGTCCTGG c.600
I D V R W F P F D V Q H C K L K F G S W p.200
. . . . . . g.132266
TCTTACGGAGGCTGGTCCTTGGATCTGCAGATGCAGGAGGCAGATATCAGTGGCTATATC c.660
S Y G G W S L D L Q M Q E A D I S G Y I p.220
. . | 07 . . . . g.132962
CCCAATGGAGAATGGGACCTAGTGG | GAATCCCCGGCAAGAGGAGTGAAAGGTTCTATGAG c.720
P N G E W D L V G | I P G K R S E R F Y E p.240
. . . . . . g.133022
TGCTGCAAAGAGCCCTACCCCGATGTCACCTTCACAGTGACCATGCGCCGCAGGACGCTC c.780
C C K E P Y P D V T F T V T M R R R T L p.260
. . . . . . g.133082
TACTATGGCCTCAACCTGCTGATCCCCTGTGTGCTCATCTCCGCCCTCGCCCTGCTGGTG c.840
Y Y G L N L L I P C V L I S A L A L L V p.280
. . . . | 08 . . g.134104
TTCCTGCTTCCTGCAGATTCCGGGGAGAAGATTTCCCTGG | GGATAACAGTCTTACTCTCT c.900
F L L P A D S G E K I S L G | I T V L L S p.300
. . . . . . g.134164
CTTACCGTCTTCATGCTGCTCGTGGCTGAGATCATGCCCGCAACATCCGATTCGGTACCA c.960
L T V F M L L V A E I M P A T S D S V P p.320
| 09. . . . . . g.137794
TTGATAG | CCCAGTACTTCGCCAGCACCATGATCATCGTGGGCCTCTCGGTGGTGGTGACA c.1020
L I A | Q Y F A S T M I I V G L S V V V T p.340
. . . . . | 10. g.142458
GTGATCGTGCTGCAGTACCACCACCACGACCCCGACGGGGGCAAGATGCCCAAGTGG | ACC c.1080
V I V L Q Y H H H D P D G G K M P K W | T p.360
. . . . . . g.142518
AGAGTCATCCTTCTGAACTGGTGCGCGTGGTTCCTGCGAATGAAGAGGCCCGGGGAGGAC c.1140
R V I L L N W C A W F L R M K R P G E D p.380
. . . . . . g.142578
AAGGTGCGCCCGGCCTGCCAGCACAAGCAGCGGCGCTGCAGCCTGGCCAGTGTGGAGATG c.1200
K V R P A C Q H K Q R R C S L A S V E M p.400
. . . . . . g.142638
AGCGCCGTGGCGCCGCCGCCCGCCAGCAACGGGAACCTGCTGTACATCGGCTTCCGCGGC c.1260
S A V A P P P A S N G N L L Y I G F R G p.420
. . . . . . g.142698
CTGGACGGCGTGCACTGTGTCCCGACCCCCGACTCTGGGGTAGTGTGTGGCCGCATGGCC c.1320
L D G V H C V P T P D S G V V C G R M A p.440
. . . . . . g.142758
TGCTCCCCCACGCACGATGAGCACCTCCTGCACGGCGGGCAACCCCCCGAGGGGGACCCG c.1380
C S P T H D E H L L H G G Q P P E G D P p.460
. . . . . . g.142818
GACTTGGCCAAGATCCTGGAGGAGGTCCGCTACATTGCCAACCGCTTCCGCTGCCAGGAC c.1440
D L A K I L E E V R Y I A N R F R C Q D p.480
. . . . . . g.142878
GAAAGCGAGGCGGTCTGCAGCGAGTGGAAGTTCGCCGCCTGTGTGGTGGACCGCCTGTGC c.1500
E S E A V C S E W K F A A C V V D R L C p.500
. . . . . . g.142938
CTCATGGCCTTCTCGGTCTTCACCATCATCTGCACCATCGGCATCCTGATGTCGGCTCCC c.1560
L M A F S V F T I I C T I G I L M S A P p.520
. . . g.142974
AACTTCGTGGAGGCCGTGTCCAAAGACTTTGCGTAA c.1596
N F V E A V S K D F A X p.531
. . . . . . g.143034
ccacgcctggttctgtacatgtggaaaactcacagatgggcaaggcctttggcttggcga c.*60
. . . . . . g.143094
gatttgggggtgctaatccaggacagcattacacgccacaactccagtgttcccttctgg c.*120
. . . . . . g.143154
ctgtcagtcgtgttgcttacggtttctttgttactttaggtagtagaatctcagcacttt c.*180
. . . . . . g.143214
gtttcatattctcagatgggctgatagatatccttggcacatccgtaccatcggtcagca c.*240
. . . . . . g.143274
gggccactgagtagtcattttgcccattagcccactgcctggaaagcccttcggagagct c.*300
. . . . . . g.143334
ccccatggctcctcaccaccgagacagttggttttgcatgtctgcatgaaggtctacctg c.*360
. . . . . . g.143394
aaaattcaacatttgctttttgcttgtgtacaaacccagattgaagctaaaataaaccag c.*420
. . . . . . g.143454
actcactaaatcctttccaataattgactggtggaaggaaaacaaaaaacaaaaactaaa c.*480
. . . . . . g.143514
aacctcttagcttttctgcaattcaactttttatttttatttttatttctatcaaagacg c.*540
. . . . . . g.143574
gtagagagaaacagcttgatgctgtttctacattaaaaaaaaaaaaaaaagacagactgt c.*600
. . . . . . g.143634
tggtcttactaaggatgtttttaccagcctgcctgacttctgcaaacctaccctgtcaag c.*660
. . . . . . g.143694
gagatcaaagggacgcaggtttctgtttattctgaacaagggccaggccccgcggagtgt c.*720
. . . . . . g.143754
ctttggtggatcccagataactcctaggtgctgctctcagacactgaggagttgagcaaa c.*780
. . . . . . g.143814
tctgttctattctgcagaacccacaggacaaataagagttctactagaattaacagccca c.*840
. . . . . . g.143874
aaagaatagctacagctaagtgaagccacttacgtgggctttaaaaaaataatgtgttag c.*900
. . . . . . g.143934
ctgattcacatgcactggagttaattagtcttagaaatgtgtgcatccatacaaatgcac c.*960
. . . . . . g.143994
aacataaagtgaacatattcctaggccctttctgcctgtgtcagggccaggaagtagagg c.*1020
. . . . . . g.144054
ctgggaactcttctggtccccagtatggcaggcgccagggaggggatggtgtggcccatc c.*1080
. . . . . . g.144114
ccttctctggatacctggccagtggcaggcagcagggaggagctggccgaccctcagtga c.*1140
. . . . . . g.144174
ctgacaagccagcaattctgagttctggcctttgggagtctgcctgctccaagccagtcc c.*1200
. . . . . . g.144234
accccagctgcagccccaaaagctggctcaaagtccttgggtggattcactggagatggg c.*1260
. . . . . . g.144294
caacttaaaacaagagaaactttaatttttaaacctaagtgatgatacagctcttccctt c.*1320
. . . . . . g.144354
agattatcgcccaggctggagtgcagtggcatgatctcagctcactgcaagctccacctc c.*1380
. . . . . . g.144414
ctgggttcatgccattctcctgcctcagcctccccccgagtaactgggaatacaggcgcc c.*1440
. . . . . . g.144474
cgccaccatgcctggctaattttttgtatttttagtagagatagggtttcatcatgttag c.*1500
. . . . . . g.144534
ccaggatggtctcattcttattctttaatgagatcagagggtaattcaccaagaaagacc c.*1560
. . . . . . g.144594
tctcctgttccattgtgtcatccaacaactgctcagagctcaaaattatagaaggcttct c.*1620
. . . . . . g.144654
gagcccctagagatttttaatttgcttctaatccctgaggtgggaacatcatgagggaag c.*1680
. . . . g.144699
atttgattttcagagttaaataaattgtatgtgcttttccagcca c.*1725
(downstream sequence)
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