(used for variant description)
(last modified July 2, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001098802.1 in the CEP78 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering CEP78 transcript NM_001098802.1.
(upstream sequence)
. . . g.5036
ggcttgaatcccggcgcctcagaggactatgaggcg c.-241
. . . . . . g.5096
ggcgccaactgcttgggccgcagggcgggaggcagcgcgggagtggggcgttgaggggcc c.-181
. . . . . . g.5156
ggcctagcttggggctctggccttgcgtcttccgaccgaatcaccgctcctgagcccggt c.-121
. . . . . . g.5216
gcggggctgccgctatcgcctggccgtgggtgccggagcggccgggttgcgactcagcgt c.-61
. . . . . . g.5276
tcttgggtgggcgcgggcggcgtctccgcggcgggcatcccccgaggccgccctcgggcc c.-1
. . . . . . g.5336
ATGATCGACTCCGTGAAGCTGCGCCGCGACAGCGCGGCGGACTTCTTCTCCCACTACGAG c.60
M I D S V K L R R D S A A D F F S H Y E p.20
. . . . . . g.5396
TACCTGTGCGCGCTGCAGAACTCGGTGCCGCTGCCCGCCGTGCGCGCCTGTCTCCGGGAG c.120
Y L C A L Q N S V P L P A V R A C L R E p.40
. . . . . . g.5456
GGCGTGCTGGATTTCAACGCCGACCGCCTCCGCGGGGTGGACTGGGCGCCTCTGCTGAGC c.180
G V L D F N A D R L R G V D W A P L L S p.60
. . . . . . g.5516
ACCCTCAAGATCAATAAAGACCTGCCCTTGGTCTCCATCAAGAGCTTCTTCCAGCCCTGG c.240
T L K I N K D L P L V S I K S F F Q P W p.80
. | 02 . . . . . g.8995
CTGGGGGACACAG | GTTCTGACATGAATAAATTTTGCAGAAGTCGTGTTCCTGCGATAAGA c.300
L G D T G | S D M N K F C R S R V P A I R p.100
. . . . . . g.9055
TACAAAGATGTGACCTTCCAGTTGTGTAAAGCTCTTAAAGGCTGTTTAAGTATATCAAGT c.360
Y K D V T F Q L C K A L K G C L S I S S p.120
. . . . . . g.9115
GTGCTAAAGAACCTGGAGCTAAATGGACTAATTCTGAGAGAGAGGGATTTAACTATTCTA c.420
V L K N L E L N G L I L R E R D L T I L p.140
| 03 . . . . . . g.9271
GCAAAG | GGATTGAATAAATCGGCTTCTTTGGTGCACCTGTCTCTTGCAAATTGTCCAATT c.480
A K | G L N K S A S L V H L S L A N C P I p.160
. | 04 . . . . g.10662
GGAGATGGAGGTTTAGAAA | TTATTTGTCAAGGTATAAAGAGCTCTATCACTCTTAAGACA c.540
G D G G L E I | I C Q G I K S S I T L K T p.180
. . . . . . g.10722
GTCAACTTCACAGGATGTAATCTGACATGGCAGGGAGCAGATCACATGGCCAAGATCTTA c.600
V N F T G C N L T W Q G A D H M A K I L p.200
| 05 . . . . . . g.12444
AAG | TATCAGACCATGAGAAGGCATGAAGAAACCTGGGCTGAGAGTCTTCGCTATAGGAGA c.660
K | Y Q T M R R H E E T W A E S L R Y R R p.220
. . . . . . g.12504
CCTGATCTTGACTGTATGGCTGGCTTAAGACGTATCACACTGAATTGCAACACACTTATT c.720
P D L D C M A G L R R I T L N C N T L I p.240
. . . . . | 06 g.15596
GGTGACCTAGGTGCATGTGCTTTTGCAGACTCTCTCAGTGAGGATTTATGGCTGAGAG | CT c.780
G D L G A C A F A D S L S E D L W L R A | p.260
. . . . . . g.15656
CTTGACCTGCAACAGTGCGGCCTCACCAATGAAGGAGCAAAGGCTTTGCTAGAGGCCCTT c.840
L D L Q Q C G L T N E G A K A L L E A L p.280
. . . . . | 07 . g.17224
GAAACCAATACAACTCTGGTCGTTCTGGATATAAGAAAAAATCCACTCATTG | ATCATTCT c.900
E T N T T L V V L D I R K N P L I D | H S p.300
. . . . . | 08. g.17690
ATGATGAAAGCAGTTATCAAAAAAGTCCTCCAGAATGGAAGGAGTGCCAAATCAGAG | TAC c.960
M M K A V I K K V L Q N G R S A K S E | Y p.320
. . . . . . g.17750
CAGTGGATAACTTCTCCATCAGTGAAGGAACCATCCAAAACTGCTAAACAGAAAAGGAGA c.1020
Q W I T S P S V K E P S K T A K Q K R R p.340
. . . . | 09 . g.20841
ACTATAATTCTAGGAAGTGGTCACAAAGGAAAAGCTACTATTAGAATTG | TAGGATTGGCT c.1080
T I I L G S G H K G K A T I R I V | G L A p.360
. . . . . . g.20901
ACAAAGAAACCTGTAAGTAGTGGCAGAAAACACTCCCTTGGTAAAGAATATTATGCGCCC c.1140
T K K P V S S G R K H S L G K E Y Y A P p.380
. . . . . . g.20961
GCACCTCTTCCACCTGGTGTGTCTGGTTTCTTGCCGTGGCGTACTGCAGAACGTGCAAAA c.1200
A P L P P G V S G F L P W R T A E R A K p.400
| 10 . . . . | 11 . g.23767
AGACACAG | GGGTTTCCCATTAATCAAAACACGTGATATATGTAATCAGTTGCAG | CAACCA c.1260
R H R | G F P L I K T R D I C N Q L Q | Q P p.420
. . . . . . g.23827
GGTTTTCCTGTGACTGTGACAGTAGAGAGTCCTTCATCCTCTGAAGTTGAAGAGGTTGAT c.1320
G F P V T V T V E S P S S S E V E E V D p.440
. . . . . . g.23887
GATTCTTCAGAGAGTGTTCATGAAGTGCCTGAGAAAACTAGTATAGAACAAGAAGCATTA c.1380
D S S E S V H E V P E K T S I E Q E A L p.460
| 12 . . . . . . g.31889
CAG | GAAAAACTGGAGGAGTGCCTAAAGCAGTTAAAGGAAGAAAGAGTGATAAGGCTTAAG c.1440
Q | E K L E E C L K Q L K E E R V I R L K p.480
. . | 13 . . . . g.33114
GTTGATAAACGAGTCAGTGAG | CTGGAACATGAAAATGCCCAGTTAAGAAATATAAATTTC c.1500
V D K R V S E | L E H E N A Q L R N I N F p.500
. . . . . . g.33174
TCTTTGTCTGAAGCCCTTCATGCACAGTCATTGACAAATATGATCCTGGATGATGAAGGT c.1560
S L S E A L H A Q S L T N M I L D D E G p.520
. . . . . . g.33234
GTTTTGGGCAGCATTGAGAATTCTTTTCAGAAGTTTCATGCTTTCTTGGATCTCCTTAAA c.1620
V L G S I E N S F Q K F H A F L D L L K p.540
| 14 . . . . . g.34349
GATGCTGG | GCTTGGGCAGCTTGCCACAATGGCTGGGATAGATCAGTCAGATTTTCAATTA c.1680
D A G | L G Q L A T M A G I D Q S D F Q L p.560
. . . . . . g.34409
CTAGGTCATCCCCAGATGACTTCTACTGTTAGTAATCCACCTAAAGAAGAAAAGAAGGCG c.1740
L G H P Q M T S T V S N P P K E E K K A p.580
. . . . . . g.34469
CTTGAAGATGAAAAACCAGAACCGAAGCAGAATGCCCTAGGGCAAATGCAAAATATCCAG c.1800
L E D E K P E P K Q N A L G Q M Q N I Q p.600
| 15 . . . . | 16 . g.35379
| GTTTCTATTTGTATGCAGTCAGCTTACAATGAAGGAACACTAATGAAG | TTTCAGAAAATT c.1860
| V S I C M Q S A Y N E G T L M K | F Q K I p.620
. . . . . . g.35439
ACAGGTGATGCTAGAATTCCTTTGCCTCTCGACTCCTTTCCTGTCCCAGTTTCTACTCCA c.1920
T G D A R I P L P L D S F P V P V S T P p.640
. . . . . . g.35499
GAGGGCTTAGGAACTTCCAGCAACAACCTAGGAGTCCCAGCTACTGAGCAGCGGCAGGAG c.1980
E G L G T S S N N L G V P A T E Q R Q E p.660
. . . . . . g.35559
TCTTTTGAAGGATTCATTGCTAGAATGTGTTCTCCTTCACCAGATGCGACTTCTGGAACT c.2040
S F E G F I A R M C S P S P D A T S G T p.680
. . . . . . g.35619
GGAAGTCAAAGAAAAGAAGAGGAGTTGTCCAGAAATAGCAGATCTTCTTCAGAGAAAAAG c.2100
G S Q R K E E E L S R N S R S S S E K K p.700
. . . . . . g.35679
ACCAAAACAGGTGAATATACCAAAAAACACTCTGATAAGCAACACCCTGGAAAGGACCTG c.2160
T K T G E Y T K K H S D K Q H P G K D L p.720
g.35688
CATTCCTGA c.2169
H S X p.722
. . . . . . g.35748
tctgactgtcctgaaaaccagaaaagcaaagaaactagggaaactagttctttggttaat c.*60
. . . . . . g.35808
gaaccaattaaaagtaggtctttgaaaaaatacgtttctgtcaagaaagaaaatagaata c.*120
. . . . . . g.35868
gtgactgtttcatccaagacaaataaaagtaaatccagtccactagaacattctgaaagt c.*180
. . . . . . g.35928
gatactcttggatgtgattttgaatttcaagaaagcatccattctctatcacacctttca c.*240
. . . . . . g.35988
tatgactaaatcttttgaaactatgtttttacctttaaattttaataaattttcttatgt c.*300
g.35993
tttta c.*305
(downstream sequence)
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