(used for variant description)
(last modified February 12, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_153223.3 in the CEP120 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering CEP120 transcript NM_153223.3.
(upstream sequence)
. . . . . g.5056
tttacagcagtagtgcgcttgcgcagctggtcccacaccaagtcgcccgcctctcc c.-61
. . . | 02. . . g.5594
tcgtccggctagcagagggcgctgtgag | ccgccttcgcccccggaccgctcaccgcaacc c.-1
. . . . | 03 . g.10088
ATGGTCTCCAAATCCGACCAATTGCTCATCGTCGTGTCCATCCTAGAAG | GTCGGCATTTC c.60
M V S K S D Q L L I V V S I L E G | R H F p.20
. . . . . . g.10148
CCCAAACGTCCAAAGCATATGCTTGTAGTGGAAGCAAAGTTTGATGGAGAACAGTTGGCT c.120
P K R P K H M L V V E A K F D G E Q L A p.40
. . . . . . g.10208
ACTGATCCTGTGGACCACACTGACCAGCCAGAATTTGCTACTGAGTTAGCTTGGGAAATT c.180
T D P V D H T D Q P E F A T E L A W E I p.60
. . | 04 . . . . g.12502
GACAGGAAAGCGCTTCATCAGCACAG | GCTACAGCGTACTCCTATCAAACTCCAATGTTTT c.240
D R K A L H Q H R | L Q R T P I K L Q C F p.80
. . . . . . g.12562
GCCTTGGATCCTGTAACTTCAGCCAAGGAAACCATAGGTTACATCGTTCTGGATTTAAGA c.300
A L D P V T S A K E T I G Y I V L D L R p.100
. . | 05 . . . . g.16091
ACCGCTCAAGAAACAAAGCAG | GCACCAAAATGGTACCAGTTGCTGAGTAATAAATACACC c.360
T A Q E T K Q | A P K W Y Q L L S N K Y T p.120
. . . . . . g.16151
AAATTCAAGTCTGAGATACAGATAAGTATTGCTTTGGAAACCGATACAAAGCCACCAGTG c.420
K F K S E I Q I S I A L E T D T K P P V p.140
. . . . | 06 . . g.29325
GATAGCTTTAAAGCAAAGGGGGCTCCCCCTCGAGATGGAAAAG | TACCTGCCATCCTGGCT c.480
D S F K A K G A P P R D G K V | P A I L A p.160
. . . . . . g.29385
GGACTTGACCCCAGGGACATTGTGGCTGTGCTGAATGAAGAGGGAGGCTACCATCAGATT c.540
G L D P R D I V A V L N E E G G Y H Q I p.180
. . . . . . g.29445
GGACCAGCAGAATACTGTACTGACTCCTTTATTATGTCAGTGACCATAGCATTTGCTACC c.600
G P A E Y C T D S F I M S V T I A F A T p.200
. | 07 . . . . . g.35143
CAGTTGGAACAG | TTAATTCCATGTACCATGAAACTTCCAGAAAGACAGCCTGAGTTTTTC c.660
Q L E Q | L I P C T M K L P E R Q P E F F p.220
. . . . . . g.35203
TTTTACTACTCTTTACTGGGAAATGATGTTACAAATGAACCCTTCAATGATTTAATCAAC c.720
F Y Y S L L G N D V T N E P F N D L I N p.240
. . . . . . g.35263
CCAAACTTTGAGCCAGAGAGAGCATCAGTTCGCATCCGTAGCAGTGTAGAAATTCTTCGT c.780
P N F E P E R A S V R I R S S V E I L R p.260
. . . | 08 . . . g.37285
GTTTACCTGGCTCTTCAGTCTAAACTGCAG | ATTCACCTCTGCTGTGGAGACCAGTCACTT c.840
V Y L A L Q S K L Q | I H L C C G D Q S L p.280
. . . . . . g.37345
GGAAGTACAGAAATACCTTTAACTGGATTACTTAAAAAGGGCAGTACAGAAATCAACCAG c.900
G S T E I P L T G L L K K G S T E I N Q p.300
. . . . . . g.37405
CACCCAGTCACAGTCGAAGGTGCTTTTACCCTTGACCCTCCAAACAGAGCCAAACAGAAG c.960
H P V T V E G A F T L D P P N R A K Q K p.320
. . . . . . g.37465
CTTGCACCTATTCCTGTGGAGCTAGCCCCAACTGTGGGAGTGTCTGTGGCTCTGCAGAGA c.1020
L A P I P V E L A P T V G V S V A L Q R p.340
. | 09 . . . . g.38494
GAAGGCATAGACTCCCAG | TCTTTAATTGAATTAAAGACCCAGAATGAACATGAGCCAGAG c.1080
E G I D S Q | S L I E L K T Q N E H E P E p.360
. . . . . . g.38554
CATTCAAAGAAGAAAGTTTTAACCCCCATAAAGGAGAAGACACTTACTGGGCCAAAATCA c.1140
H S K K K V L T P I K E K T L T G P K S p.380
. . . . . . g.38614
CCAACAGTGTCCCCTGTTCCATCTCACAACCAGTCACCTCCAACAAAAGATGATGCAACA c.1200
P T V S P V P S H N Q S P P T K D D A T p.400
. . . . . | 10 . g.39991
GAAAGTGAAGTGGAAAGTTTACAGTATGATAAGGACACCAAACCAAATCCAAAAG | CCAGT c.1260
E S E V E S L Q Y D K D T K P N P K A | S p.420
. . . . . . g.40051
TCTTCTGTACCTGCTTCACTGGCCCAGCTAGTGACTACATCCAATGCTTCAGAAGTAGCT c.1320
S S V P A S L A Q L V T T S N A S E V A p.440
. . . . . . g.40111
TCAGGACAGAAGATTGCTGTACCAGCAACATCACATCATTTTTGCTTTTCAATAGACTTA c.1380
S G Q K I A V P A T S H H F C F S I D L p.460
. . . . . | 11 . g.41935
AGGAGTATACATGCCTTGGAGATTGGTTTTCCAATCAACTGTATATTAAG | GTACTCATAT c.1440
R S I H A L E I G F P I N C I L R | Y S Y p.480
. . . . . . g.41995
CCATTCTTTGGAAGTGCAGCTCCTATTATGACTAATCCTCCTGTAGAAGTTCGGAAAAAC c.1500
P F F G S A A P I M T N P P V E V R K N p.500
. . . . . . g.42055
ATGGAAGTTTTTCTTCCCCAGTCTTACTGTGCATTTGATTTTGCAACTATGCCTCATCAG c.1560
M E V F L P Q S Y C A F D F A T M P H Q p.520
. . | 12 . . . . g.43499
CTGCAAGACACCTTCTTAAG | GATTCCATTACTGGTTGAACTATGGCACAAGGATAAAATG c.1620
L Q D T F L R | I P L L V E L W H K D K M p.540
. . . . . . g.43559
AGTAAAGATTTACTTCTGGGAATTGCGAGAATCCAGCTTTCTAACATCTTGTCTTCAGAA c.1680
S K D L L L G I A R I Q L S N I L S S E p.560
. . . . . . g.43619
AAAACTCGTTTTTTAGGTTCTAATGGTGAACAGTGTTGGCGTCAAACTTACAGTGAAAGT c.1740
K T R F L G S N G E Q C W R Q T Y S E S p.580
. . | 13 . . . . g.45547
GTGCCTGTTATAGCAGCACAAGG | ATCAAATAACAGGATAGCAGATCTTTCTTACACAGTG c.1800
V P V I A A Q G | S N N R I A D L S Y T V p.600
. . . . . . g.45607
ACTCTAGAAGATTATGGACTAGTAAAAATGCGTGAGATTTTTATCTCTGATTCATCTCAG c.1860
T L E D Y G L V K M R E I F I S D S S Q p.620
| 14 . . . . . . g.45763
| GGTGTATCTGCCGTACAGCAAAAGCCGTCTTCTCTTCCTCCAGCACCTTGTCCTTCAGAG c.1920
| G V S A V Q Q K P S S L P P A P C P S E p.640
. . . . . . g.45823
ATCCAGACAGAGCCTCGTGAAACGTTAGAATACAAAGCAGCACTTGAGCTAGAAATGTGG c.1980
I Q T E P R E T L E Y K A A L E L E M W p.660
. . . | 15 . . . g.46419
AAGGAGATGCAAGAAGATATATTTGAAAATCAG | CTGAAGCAGAAAGAACTGGCTCATATG c.2040
K E M Q E D I F E N Q | L K Q K E L A H M p.680
. . . . . . g.46479
CAGGCTCTTGCAGAGGAATGGAAGAAAAGGGACCGAGAAAGAGAATCACTAGTAAAGAAA c.2100
Q A L A E E W K K R D R E R E S L V K K p.700
| 16 . . . . . . g.50221
AAG | GTGGCTGAATATACTATTCTAGAAGGAAAACTTCAAAAAACTCTAATTGACTTGGAG c.2160
K | V A E Y T I L E G K L Q K T L I D L E p.720
. . . | 17 . . . g.51081
AAGCGAGAGCAGCAGCTTGCTAGTGTGGAATCAGAG | CTTCAAAGAGAAAAAAAGGAACTG c.2220
K R E Q Q L A S V E S E | L Q R E K K E L p.740
. . . . . . g.51141
CAATCAGAACGTCAGCGGAACCTGCAAGAACTGCAGGACTCTATCCGTAGGGCCAAAGAG c.2280
Q S E R Q R N L Q E L Q D S I R R A K E p.760
. . . . . . g.51201
GACTGTATTCACCAAGTAGAACTAGAAAGGTTAAAAATCAAACAGCTCGAAGAGGATAAA c.2340
D C I H Q V E L E R L K I K Q L E E D K p.780
. | 18 . . . . g.55862
CACCGCCTTCAGCAACAG | CTTAATGATGCTGAAAATAAGTATAAGATTTTGGAAAAAGAG c.2400
H R L Q Q Q | L N D A E N K Y K I L E K E p.800
. . . . . . g.55922
TTCCAACAGTTCAAGGACCAGCAAAACAACAAACCAGAAATCCGTCTACAGTCTGAAATA c.2460
F Q Q F K D Q Q N N K P E I R L Q S E I p.820
. . | 19 . . . . g.64037
AATCTTCTCACCTTGGAAAAG | GTTGAACTTGAAAGAAAGTTGGAATCTGCAACTAAGTCT c.2520
N L L T L E K | V E L E R K L E S A T K S p.840
. . . . . . g.64097
AAACTGCATTACAAGCAGCAGTGGGGACGAGCTTTGAAAGAACTTGCCAGACTTAAACAG c.2580
K L H Y K Q Q W G R A L K E L A R L K Q p.860
| 20 . . . . . . g.78563
| AGGGAGCAAGAAAGTCAAATGGCTCGTCTTAAAAAACAGCAGGAAGAATTGGAACAGATG c.2640
| R E Q E S Q M A R L K K Q Q E E L E Q M p.880
. . . . . . g.78623
AGACTACGTTACCTTGCCGCTGAGGAAAAAGATACAGTAAAAACCGAGCGACAAGAATTG c.2700
R L R Y L A A E E K D T V K T E R Q E L p.900
. . | 21 . . . . g.81873
TTGGATATAAGAAATGAATTGAACAG | GTTAAGGCAACAAGAGCAAAAACAATACCAGGAT c.2760
L D I R N E L N R | L R Q Q E Q K Q Y Q D p.920
. . . . . . g.81933
TCCACAGAGATTGCAAGTGGAAAAAAGGATGGCCCCCATGGCAGTGTATTGGAAGAAGGT c.2820
S T E I A S G K K D G P H G S V L E E G p.940
. . . . . . g.81993
TTGGATGATTATTTGACTCGCCTGATAGAAGAAAGGGATACTTTGATGAGAACGGGTGTG c.2880
L D D Y L T R L I E E R D T L M R T G V p.960
. . . . . . g.82053
TATAATCACGAGGATCGAATAATAAGTGAACTCGACCGACAGATCAGAGAGATTTTGGCA c.2940
Y N H E D R I I S E L D R Q I R E I L A p.980
. . g.82074
AAAAGCAATGCCAGTAATTAA c.2961
K S N A S N X p.986
. . . . . . g.82134
taacatttggaaaagctttatagagactctaagtctaaattttaatttctttgtaaaaac c.*60
. . . . . . g.82194
ctcaaaagtgaggaaaatggatgttttaaaatggtattttcaattttttataagcaaaat c.*120
. . . . . . g.82254
tttgtatgttattgtatagtatttatttgatcttatttactttatgctacctctcccaca c.*180
. . . . . . g.82314
ctggttttatttgtaatttgcatttatatactcattttaaatgacttttcagtgtttttc c.*240
. . . . . . g.82374
atagtttataatctgatggctaactaactttcaaaacagcttttaactaagtttgttgta c.*300
. . . . . . g.82434
ggagaaatgactgcggtaatttccagttctataatgtttcatgttgagccaaaagagtat c.*360
. . . . . . g.82494
atcttgcactttaaaaacgctgcgtcctattccatttgaatgtaaattcttaaaagttga c.*420
. . . . . . g.82554
gaccaattgtaaccagtttaactcattttagatgacctttttttcttataatatttgcaa c.*480
. . . . . . g.82614
gtgacaagtttgaaaacaaagcaagatcagtgcagagaagccacatgacatgttgggtga c.*540
. . . . . . g.82674
cagattggtcatttatttaaataaagttaatacagattaaatttgtttcaagagctattg c.*600
. . . . . . g.82734
aattttcaaattttcagtgtatttataacttttaagaacatgaagtattagcttaatata c.*660
. . . . . . g.82794
gttttctctgttggtttcttcctcaagtttgcattgttttcttttgttaaaattagagat c.*720
. . . . . . g.82854
ttctttttattttccagttatagtaatactagctgtcagcttaaaccctctgtaatagaa c.*780
. . . . . . g.82914
catggaaacagacacataaagacattagctgaaaaaatagagtgaaaatcaactattttt c.*840
. . . . . . g.82974
tactcccgctaatttcaatcaatcgttttcaaaagcgcacgagattcactcattggattt c.*900
. . . . . . g.83034
atgcagtgccctgtctgtataaaaactcttaagagttcctttatatcatattcttcagag c.*960
. . . . . . g.83094
ccaacatttgtcctcaaagcaacgtttcccacctccttttactgagtactgaaaaagttt c.*1020
. . . . . . g.83154
tagcaaagtcacagattaggttgaatttcaaaatatatgtactttaaaaagttctgattt c.*1080
. . . . . . g.83214
ccaaatataataaagttaaaattaagtatatactttaggaagttaccaataacttccatc c.*1140
. . . . . . g.83274
aaagcagagtaggatatatggtaacattaattttcggtcatttcaaatgaggtatatttc c.*1200
. . . . . . g.83334
ttattagggaaattaaagtccctatatttattatatattttttccttattaacagagtat c.*1260
. . . . . . g.83394
taatctagtaaaaaataacccagcagtaaataataaagaaattactgaatgagaggataa c.*1320
. . . . . . g.83454
tgaatctgaatcatagcaggaatttgcaatattaattatggttagctatttttctctcat c.*1380
. . . . . . g.83514
tgatttttgtgccacttgaatggaacagaagcaagccttatgttttggaaggtctgcggt c.*1440
. . . . . . g.83574
aaaatgctgtgactgtttactttcaattgcattgtgtgttgcctgtgactgctttcaaac c.*1500
. . . . . . g.83634
gctagagggggcctctgatttaaagaaataaaaaggacttttctaaaatggatgtgtagt c.*1560
. . . . . . g.83694
ttattttgccttttgtaaagctcttttggctattgtaacttaacaaataaaatcataatt c.*1620
. g.83708
gtgtgcatctctga c.*1634
(downstream sequence)
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