(used for variant description)
(last modified January 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_015041.2 in the CLUAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047131.1, covering CLUAP1 transcript NM_015041.2.
(upstream sequence)
g.5003
gtt c.-121
. . . . . . g.5063
tgtccctgaccgtgcgccgtccaagggtccattggttgccatagagatcgtcgagcgctg c.-61
. . . . . . g.5123
ggcctgtgatcgctgaggggcgagcagttgcgaccctgggctcctggggacctgagcgtt c.-1
. . | 02 . . . . g.8813
ATGTCTTTCCGCGACCTCCGCA | ATTTCACAGAGATGATGAGAGCCCTGGGATACCCTCGA c.60
M S F R D L R N | F T E M M R A L G Y P R p.20
. . . . . . g.8873
CATATTTCTATGGAAAATTTCCGTACACCCAATTTTGGACTTGTATCTGAAGTGCTTCTC c.120
H I S M E N F R T P N F G L V S E V L L p.40
. | 03 . . . . . g.10432
TGGCTTGTGAAAAG | ATATGAGCCCCAGACTGACATCCCGCCTGACGTGGATACTGAACAG c.180
W L V K R | Y E P Q T D I P P D V D T E Q p.60
. . . | 04 . . g.12365
GACCGAGTTTTCTTCATTAAGGCAATTGCCCAGTTCATG | GCCACCAAGGCACATATAAAA c.240
D R V F F I K A I A Q F M | A T K A H I K p.80
. . . . . . g.12425
CTCAACACTAAGAAGCTTTATCAAGCAGATGGGTATGCGGTAAAAGAGCTGCTGAAGATC c.300
L N T K K L Y Q A D G Y A V K E L L K I p.100
. . . . . . g.12485
ACATCTGTCCTTTATAATGCTATGAAGACCAAGGGGATGGAGGGCTCTGAAATAGTAGAG c.360
T S V L Y N A M K T K G M E G S E I V E p.120
. . . | 05 . . g.16459
GAAGATGTCAACAAGTTCAAGTTTGATCTTGGCTCAAAG | ATTGCAGATTTGAAGGCAGCC c.420
E D V N K F K F D L G S K | I A D L K A A p.140
. . . . . . g.16519
AGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATG c.480
R Q L A S E I T S K G A S L Y D L L G M p.160
. | 06 . . . . . g.19608
GAAGTAGAGTTGAGG | GAAATGAGAACAGAAGCCATTGCCAGACCTCTGGAAATAAACGAG c.540
E V E L R | E M R T E A I A R P L E I N E p.180
. . . | 07 . . g.23979
ACTGAAAAAGTGATGAGAATTGCAATAAAAGAGATTTTG | ACACAGGTTCAGAAGACTAAA c.600
T E K V M R I A I K E I L | T Q V Q K T K p.200
. . . . . . g.24039
GACCTGCTCAATAATGTGGCCTCTGATGAAGCTAATTTAGAAGCCAAAATCGAAAAGAGA c.660
D L L N N V A S D E A N L E A K I E K R p.220
. . . . . | 08 . g.27220
AAATTAGAACTGGAAAGAAATCGGAAGCGACTAGAGACTCTGCAGAGTGTCAG | GCCATGT c.720
K L E L E R N R K R L E T L Q S V R | P C p.240
. . . . . . g.27280
TTTATGGATGAGTATGAGAAGACTGAGGAAGAATTACAAAAGCAGTATGACACTTATCTG c.780
F M D E Y E K T E E E L Q K Q Y D T Y L p.260
. . . . . . g.27340
GAGAAATTTCAAAATCTGACTTATCTGGAACAACAGCTTGAAGACCATCATAGGATGGAG c.840
E K F Q N L T Y L E Q Q L E D H H R M E p.280
. | 09 . . . . . g.30512
CAAGAAAGGTTTGAG | GAAGCTAAAAACACTCTCTGCCTGATACAGAACAAGCTCAAGGAG c.900
Q E R F E | E A K N T L C L I Q N K L K E p.300
. . | 10 . . . g.34655
GAAGAGAAGCGCCTGCTCAAGAGTGGAA | GTAACGATGACTCGGACATAGACATCCAGGAG c.960
E E K R L L K S G S | N D D S D I D I Q E p.320
. . . . . . g.34715
GACGATGAATCCGACAGTGAGTTGGAAGAAAGGCGGCTGCCCAAGCCACAGACAGCCATG c.1020
D D E S D S E L E E R R L P K P Q T A M p.340
. | 11 . . . . . g.36885
GAGATGCTCATGCAAG | GAAGACCTGGCAAACGCATTGTGGGCACGATGCAAGGTGGAGAC c.1080
E M L M Q G | R P G K R I V G T M Q G G D p.360
. | 12 . . . . . g.40225
TCCGATGACAAT | GAGGACTCGGAGGAGAGTGAAATTGACATGGAAGATGATGATGACGAG c.1140
S D D N | E D S E E S E I D M E D D D D E p.380
. . . . . . g.40285
GATGACGATTTGGAAGACGAGAGCATTTCTCTCTCACCAACCAAGCCCAATCGAAGGGTC c.1200
D D D L E D E S I S L S P T K P N R R V p.400
. . . . g.40327
CGGAAATCTGAACCCCTGGATGAGAGTGACAATGACTTCTGA c.1242
R K S E P L D E S D N D F X p.413
. . . . . . g.40387
cccttttgccaagggaccctggcagattaaaaccctcagacttgtaggtaaatgggaact c.*60
. . . . . . g.40447
tagaaggttaggaaggtaacccctgttttgtttactaagctggctggactcatgatcact c.*120
. . . . . . g.40507
gaagcaatacttatttctgctttagcctcctatgtttgcattccatgaagcttaaataag c.*180
. . . . . . g.40567
aattgaagcaaatccctaagatttatttttttccaccttatttatcttctaaaacttgag c.*240
. . . . . . g.40627
gaatgcatgtgttcttagtgattcacatccacgggacaaaaactcaagaagaaataagag c.*300
. . . . . . g.40687
ctgacgccacacaagtcttggctgcttttgttactatacattttctctgagactccagca c.*360
. . . . . . g.40747
gagttggggctggaacttggcactggggactcatgtttggaatcgtaggggaacatctgg c.*420
. . . . . . g.40807
ctgttaatcacttgcacagttgagaacatttcctatacatcggcttttaattctagctct c.*480
. . . . . . g.40867
tatttcattttgtaatcttattttctttcgtctgcatgttcacaataccaagcattaaat c.*540
. . . . . . g.40927
gtattttaataactaaacttttctgaaagaaggttagctaaagttaaatgaaaacttggt c.*600
. . . . . . g.40987
ttctttgaaaatcaggcaatagagacaggctccagatgaggaatcctccattttctgtcc c.*660
. . . . . . g.41047
gaagctgacattcctctggcagtccagttcaccttggattacagccaccttcatgtttcc c.*720
. . . . . . g.41107
acggttggtactaaatctggaaactctggtgacctgggctgccctctcagaaactccaga c.*780
. . . . . . g.41167
ctcccatggcaatgacagccgggacacttttcttccctccagccagggtttctctaaagg c.*840
. . . . . . g.41227
agctttgttttgtctaaagtgtggcaagacatagtgcacaacacagggacaaaggcaggt c.*900
. . . . . . g.41287
ttcctgcagctcgctacctaagtgtttctgtaggggaaggagccaattaagaaaaagtgt c.*960
. . . . . . g.41347
tggtacagattcatgtttctgatttaaaaaaacaacaacacaggattgaattaagtagag c.*1020
. . . . . . g.41407
taatagcactagaagaatttttctgttgtgaaattagaagtggagttggtttttttcttt c.*1080
. . . . . . g.41467
tttcttcttctttttttttaatatgaaaagtacttagctgggagtggtggcaagcgccct c.*1140
. . . . . . g.41527
tgggtccagctactcaggaggccaaggtgggaggatcacttgagcccaggagttttagac c.*1200
. . . . . . g.41587
tagcctggacaactaagtgagactccatctctacaaaaaattaaaaaattagccaggtgt c.*1260
. . . . . . g.41647
ggaggggcatgcctgtggtctcagctattcaggaggctgaggcaggagaatcacttgaga c.*1320
. . . . . . g.41707
ccaggaagttgaggctgcaatgagccgtgatcatgccactgcactccagcctgggtgaca c.*1380
. . . . . . g.41767
gagtgagaccctgtctttaaaaaaaagaaaaagaaaagcacgctgcttgtaaaaagcgta c.*1440
. . . . . . g.41827
cagtaggtcaggcgtggtggctcatgcctgtaatcctagcactttgagaggctgaggtgg c.*1500
. . . . . . g.41887
gtagatcacctgaggtcaggggtttgagaccagcctggccaacatggcgaaaccccacct c.*1560
. . . . . . g.41947
ctactaaaaatacaaaaattagccgggcgtggtagcgcatgcctgtaaccccagctactg c.*1620
. . . . . . g.42007
gggaggctgaggcaggagaatcgcttgaacctaggaggcggaggttgcagtgagccgaga c.*1680
. . . . . . g.42067
tggcgccactgcactccagcctgggcagcagagtgagactccatctcaaaaaaaaaaaaa c.*1740
. . . . . . g.42127
aaaaaaaaagcatacagtaaataaaaaagcacaaaacagttttcacttattttacaatta c.*1800
. . . . . . g.42187
aaaagtcagaagacttctgaagttacttatcttttaatacatgtatttaacaccatactt c.*1860
. . . . . . g.42247
catattattaaataggttttacttaaaaatataattattgtatttgtacctgtcagatat c.*1920
. . . . . . g.42307
aaatacttattcaggagttcacaggtacgaaaagatacacataaattttaggaacttttg c.*1980
. . . . . . g.42367
agttatttctgtcatttttgcttttttctctttcttttcctaaattttatgtataagatt c.*2040
. . . . . . g.42427
acccctaaaaaaaaaaaaacagccagtattcagtgaattcaccagtaatttgaaatgcac c.*2100
. . . . . . g.42487
catattgtaaatgatccactgacagggaagccagcgtgttggagccatgccagccacctc c.*2160
. . . . . . g.42547
agacaccgtggctctaagatgcggaagagtcactgcatcttcttgaatgttacagatttg c.*2220
. . . . . . g.42607
gtttgcctgaatgtgacttgacttctgttttgaaaaaacatacgaatagagttctatttt c.*2280
. . . . . . g.42667
ccttatgtgatgctttcttctaacacactttaacacagaagcctaacctagctacaaaga c.*2340
. . . . . . g.42727
gcctatccacagacataggcaacagctccaaagggtatttcattgtgtcacctgcttcta c.*2400
. . . . . . g.42787
gatcatctgttagttaactgactttgtgcaaggtctcaccatgtatagcactgccttgct c.*2460
. . . . . . g.42847
tgagcacggaagtttctgtcaacagcaagctttatgtgctctatcatttttattaaagta c.*2520
. . . . . . g.42907
tttcagtcaatagtgacccattgtagaatggatgcaggattcacatgtgcaagtgctttg c.*2580
. . . . . . g.42967
tgacctggcaccatttggttttggccaagcagcagagcagacctcaggacctaacgagga c.*2640
. . . . . . g.43027
tggttgtgattaggtcaaatagaaaactagcaggccattgctgacaatttttactatata c.*2700
. . . . . . g.43087
attagaggacttcctaaaatgctttaaaaaaaaatgtgtatggatggaaaatacaaagga c.*2760
. g.43104
atttttcaaatactcaa c.*2777
(downstream sequence)
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