(used for variant description)
(last modified February 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018292.4 in the QRSL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering QRSL1 transcript NM_018292.4.
(upstream sequence)
. . . . . g.5056
gttgaagggctcagtgacaattaaagatggctgcgcccatgtaacatcactagcga c.-61
. . . . . . g.5116
ccggtgacctctttttcccccttgcctggctcctgtggtggcaggctgggcacgaggacc c.-1
. . | 02 . . . . g.15819
ATGCTGGGCCGGAGCCTCCGAGAA | GTTTCTGCGGCACTGAAACAAGGCCAAATTACACCA c.60
M L G R S L R E | V S A A L K Q G Q I T P p.20
. . . . . . g.15879
ACAGAGCTCTGTCAAAAATGTCTCTCTCTTATCAAGAAGACCAAGTTTCTAAATGCCTAC c.120
T E L C Q K C L S L I K K T K F L N A Y p.40
. . . . . . g.15939
ATTACTGTGTCAGAAGAGGTGGCCTTAAAACAAGCTGAAGAATCAGAAAAGAGATATAAG c.180
I T V S E E V A L K Q A E E S E K R Y K p.60
| 03 . . . . . . g.16313
AATG | GACAGTCACTTGGGGATTTAGATGGAATTCCTATTGCAGTAAAAGACAATTTCAGC c.240
N G | Q S L G D L D G I P I A V K D N F S p.80
. . . . | 04 . . g.18445
ACTTCTGGCATTGAGACAACATGTGCATCAAATATGCTGAAAG | GTTATATACCACCTTAT c.300
T S G I E T T C A S N M L K G | Y I P P Y p.100
. . . . . . g.18505
AATGCTACAGTAGTTCAGAAGTTGTTGGATCAGGGAGCTCTACTAATGGGAAAAACAAAT c.360
N A T V V Q K L L D Q G A L L M G K T N p.120
. . | 05 . . . . g.24499
TTAGATGAGTTTGCTATGGG | ATCTGGGAGCACAGATGGTGTATTTGGACCAGTTAAAAAC c.420
L D E F A M G | S G S T D G V F G P V K N p.140
. . . . . . g.24559
CCCTGGAGTTATTCAAAACAATATAGAGAAAAGAGGAAGCAGAATCCCCACAGCGAGAAT c.480
P W S Y S K Q Y R E K R K Q N P H S E N p.160
. . . . . . g.24619
GAAGATTCAGACTGGCTGATAACTGGAGGAAGCTCAGGTGGGAGTGCAGCTGCTGTATCG c.540
E D S D W L I T G G S S G G S A A A V S p.180
. | 06. . . . . g.27686
GCGTTCACATGCTACGC | GGCTTTAGGATCAGATACAGGAGGATCGACCAGAAATCCTGCT c.600
A F T C Y A | A L G S D T G G S T R N P A p.200
. . . . . . g.27746
GCCCACTGTGGGCTTGTTGGTTTCAAACCAAGCTATGGCTTAGTTTCCCGTCATGGTCTC c.660
A H C G L V G F K P S Y G L V S R H G L p.220
. . . . . . g.27806
ATTCCCCTGGTGAATTCGATGGATGTGCCAGGAATCTTAACCAGATGTGTGGATGATGCA c.720
I P L V N S M D V P G I L T R C V D D A p.240
. | 07 . . . . . g.27948
GCAATTGTGTTGG | GTGCACTGGCCGGACCTGACCCCAGGGACTCTACCACAGTACATGAA c.780
A I V L G | A L A G P D P R D S T T V H E p.260
. . . . . . g.28008
CCTATTAATAAACCATTCATGCTTCCCAGTTTGGCAGATGTGAGCAAACTATGTATAGGA c.840
P I N K P F M L P S L A D V S K L C I G p.280
| 08 . . . . . g.30215
ATTCCAAAG | GAATATCTTGTACCGGAATTATCAAGTGAAGTACAGTCTCTTTGGTCCAAA c.900
I P K | E Y L V P E L S S E V Q S L W S K p.300
. . . . . . g.30275
GCTGCTGACCTCTTTGAGTCTGAGGGGGCCAAAGTAATTGAAGTATCCCTTCCTCACACC c.960
A A D L F E S E G A K V I E V S L P H T p.320
. . . . . . g.30335
AGTTATTCAATTGTCTGCTACCATGTATTGTGCACATCAGAAGTGGCATCGAATATGGCA c.1020
S Y S I V C Y H V L C T S E V A S N M A p.340
. . | 09 . . . . g.31087
AGATTTGATGGGCTACAATATG | GTCACAGATGTGACATTGATGTGTCCACTGAAGCCATG c.1080
R F D G L Q Y G | H R C D I D V S T E A M p.360
. . . . . . g.31147
TATGCTGCAACCAGACGAGAAGGGTTTAATGATGTGGTGAGAGGAAGAATTCTCTCAGGA c.1140
Y A A T R R E G F N D V V R G R I L S G p.380
. . | 10 . . . . g.38454
AACTTTTTCTTATTAAAAGA | AAACTATGAAAATTATTTTGTCAAAGCACAGAAAGTGAGA c.1200
N F F L L K E | N Y E N Y F V K A Q K V R p.400
. . . . . . g.38514
CGCCTCATTGCTAATGACTTTGTAAATGCTTTTAACTCTGGAGTAGATGTCTTGCTAACT c.1260
R L I A N D F V N A F N S G V D V L L T p.420
. . . . . . g.38574
CCCACCACCTTGAGTGAGGCAGTACCATACTTGGAGTTCATCAAAGAGGACAACAGAACC c.1320
P T T L S E A V P Y L E F I K E D N R T p.440
. . . . | 11 . . g.41230
CGAAGTGCCCAGGATGATATTTTTACACAAGCTGTAAATATGGCAG | GATTGCCAGCAGTG c.1380
R S A Q D D I F T Q A V N M A G | L P A V p.460
. . . . . . g.41290
AGTATCCCTGTTGCACTCTCAAACCAAGGGTTGCCAATAGGACTGCAGTTTATTGGACGT c.1440
S I P V A L S N Q G L P I G L Q F I G R p.480
. . . . . . g.41350
GCGTTTTGTGACCAGCAGCTTCTTACAGTAGCCAAATGGTTTGAAAAACAAGTACAGTTT c.1500
A F C D Q Q L L T V A K W F E K Q V Q F p.500
. . . . . . g.41410
CCTGTTATTCAACTTCAAGAACTCATGGATGATTGTTCAGCAGTCCTTGAAAATGAAAAG c.1560
P V I Q L Q E L M D D C S A V L E N E K p.520
. . g.41437
TTAGCCTCTGTCTCTCTAAAACAGTAA c.1587
L A S V S L K Q X p.528
. . . . . . g.41497
acatatcttacaaattaaaatgacttttaggctgggtgcagtggctcacacctgtaatcc c.*60
. . . . . . g.41557
cagcactttgggaggccaaggcgagcggatcatgaggtcagaagatctagaacagcctgg c.*120
. . . . . . g.41617
tcaacatggtgaaaccccgtctctactaaaaatacaaaaattagccaggcttagtggcgg c.*180
. . . . . . g.41677
gcatctgtagtcccagctactcaggaggctgaggcaggagaatcacttgaaccctggagg c.*240
. . . . . . g.41737
tggaggttgcagtgagccgagatcatgccactgcactgcactccagcctgggtgacaaag c.*300
. . . . . . g.41797
caagactgtgtctcaaaataaataaataaaataaaataaaatgacgtacagagattctat c.*360
. . . . . . g.41857
attctagagagtcaaatggtcttgctcaattcttgtaattaggttcttgttaatacagtc c.*420
. . . . . . g.41917
attccatggaattactttttaaaattcctgtgacaattaataataaataacgtgtcagca c.*480
. . . . . . g.41977
tttagtaagcatccactaagtgtacaatacttctacaataacacaagatacctgttcctc c.*540
. . . . . . g.42037
aaagacaatgcattctgccataatgttcattaaagagtttacagtaaaaataagattagg c.*600
. . . . . . g.42097
gataaacttctcaaaaattgtacatctgtgtaactaaagcactaacaaaaacatgaatag c.*660
. . . . . . g.42157
tccttctagaggtaacttggatagcctaggcaggcaacttatcatgtggtgaaggccgcc c.*720
. . . . . . g.42217
tcaggggttgttaaaaatgcacagaaacaattgagtgcgattattggcttctgagcgctg c.*780
. . . . . . g.42277
agcagagcaggtggaagaggaactttgagcacaggaggaaatgcaaccagtcagggccca c.*840
. . . . . . g.42337
gaatcatgcaaatctcaggggtatgcctctctggggaggagctccacttgcagggactcc c.*900
. . . . . . g.42397
ttttatttccctaagaaagagctgaaatgactgagaactttcctttcctccttagagtta c.*960
. . . . . . g.42457
caattttacttctgctattccggagcccatgcctagaagccagaacaactccatgttaca c.*1020
. . . . . . g.42517
ctgagttcatgctcctatttactgatcacaaatgagctcattaatgtcatcgaaacattt c.*1080
. . . . . . g.42577
attgtaacctaacagaccatcacagattggaaacttggtagatagcagagcatggtatta c.*1140
. . . . . . g.42637
gtgaaaaaggttcaaaatacacaagtaacatacactctgaaaaacatgcagataatttgc c.*1200
. . . . . . g.42697
tgatgaagcagaagaggggatgcgcatggcaagaacttgccttaccccagattctctata c.*1260
. . . . . . g.42757
tctcatggtttccttttcctcttgactgtctttacgagtgttttttatttgggaccctcg c.*1320
. . . . . . g.42817
agcccagagatattaatggatatctgtattcaatatttgacaaaatctaatggaaaccat c.*1380
. . . . . . g.42877
ccatttactcatgataaggcttcatcactggatttctgtgtcttcactagaacaccattg c.*1440
. . . . . . g.42937
tcatctcatattgatcaggtattttaatctagcacttacatattgttgataaatgaaagc c.*1500
. . . . . . g.42997
tgaattgttacttaataaattcactttgtttagtaaaaaaaaattgttttctaaatatga c.*1560
. . . . . . g.43057
cgttcatgaagagaaaataatgagtcagaatcatctgcagaaccactggaatgtttcatc c.*1620
. . . . . . g.43117
gtcacctgttagttttcataaacagttttctgtcctctctgagatcctcccgctcccaaa c.*1680
. . . . . . g.43177
tactcaacctgattaacttcacataaaagtcttatgtgccaggcttagtaatattcctat c.*1740
. . . . . . g.43237
agattttgactctgaatccctgaaagaggaagaaatccatgagagaaaattgcattactt c.*1800
. . . . . . g.43297
tatagcaagaggaaaccgttttaagttttttaattgctcagacaccacaacatcctagat c.*1860
. . . . . . g.43357
ggaggaaaccattttagttgaaggagcaaatatgatgtcaaaagcaagtaaataaacaaa c.*1920
. . . . . . g.43417
ccgttgccccaatctgtttttatgtaatgaatttaaaaaaaaagagagagagagagagat c.*1980
. . . . . . g.43477
gggctctccctgtgttgcccaggctagtctcaaactcctgggctcaagtgatctgcctcc c.*2040
. . . . . . g.43537
ctcagcctcccaaagtgctgagattaaagacgtgagccaccacacctggccgaaataata c.*2100
. . . . . . g.43597
atattcaatattatatattcaatgatattattcagtattcaatattatttcaaataatat c.*2160
. . . . . . g.43657
taaatctcttgttcctgtatctctacatgagctgcactaataatttgaatctggaaatta c.*2220
. . . . . . g.43717
aaaagtgaaacatttaccgttctcatatactgatacccaactaccatgaaatgataccta c.*2280
. . . . . . g.43777
atttgtttttcttttctcttcatttttactcttaatctagtaggtctcattttgccaagt c.*2340
. . . . . . g.43837
cactgtctgggaatttaagtggcaaatactttctttgtctcagctaattaaactctaaaa c.*2400
. g.43852
ttattagcaacagaa c.*2415
(downstream sequence)
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