(used for variant description)
(last modified June 27, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_033626.2 in the CCDC120 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016255.1, covering CCDC120 transcript NM_033626.2.
(upstream sequence)
. . . g.5037
ccaaggcatctgccactgctgctgactgccactacca c.-181
. . . . | 02. . g.7996
gccggagccagggcctggtcgagacaactatttttgag | gcaagactcgtggctgtgaccc c.-121
. . . . . . g.8056
atgggcctctgaggaggcgttgtaagtccgcccagctccccacttgctgtgctctcactc c.-61
. . | 03. . . . g.8292
aatgcgaagggaaccaag | actttgtccagccatcagccacggcctctcgacagcaccaag c.-1
. . . . | 04 . g.8494
ATGGAAGTCAAAGGTCAGCTGATCAGCTCTCCTACCTTCAATGCCCCAG | CTGCCCTGTTC c.60
M E V K G Q L I S S P T F N A P A | A L F p.20
. . . . . . g.8554
GGAGAGGCTGCCCCCCAGGTGAAGTCAGAGCGTCTGCGGGGGCTGCTTGACCGGCAGCGG c.120
G E A A P Q V K S E R L R G L L D R Q R p.40
. . . . . . g.8614
ACCCTGCAGGAGGCCCTGAGCCTGAAACTTCAGGAGCTCCGCAAAGTGTGTCTCCAGGAG c.180
T L Q E A L S L K L Q E L R K V C L Q E p.60
| 05 . . . . . . g.9933
GCG | GAGCTGACTGGCCAGCTGCCCCCTGAGTGCCCACTAGAGCCTGGTGAACGGCCCCAG c.240
A | E L T G Q L P P E C P L E P G E R P Q p.80
. . . . . . g.9993
TTGGTCCGCCGGCGGCCCCCCACAGCCCGCGCCTACCCTCCACCGCACCCCAACCAAGCA c.300
L V R R R P P T A R A Y P P P H P N Q A p.100
. . | 06 . . . . g.10421
CACCACTCCTTGTGCCCTGCTGAG | GAGCTGGCTCTTGAGGCCCTGGAACGCGAGGTGTCA c.360
H H S L C P A E | E L A L E A L E R E V S p.120
. . . . . . g.10481
GTGCAACAGCAGATCGCGGCGGCCGCCCGCCGCCTGGCCTTGGCCCCTGATCTGAGCACC c.420
V Q Q Q I A A A A R R L A L A P D L S T p.140
. . . . . . g.10541
GAGCAGCGCCGGCGCCGGCGCCAGGTCCAGGCAGATGCACTGAGGAGGCTGCATGAGCTA c.480
E Q R R R R R Q V Q A D A L R R L H E L p.160
. . . . . . g.10601
GAGGAGCAGCTCAGGGATGTCCGGGCCCGCCTTGGCCTCCCAGTGCTCCCGCTGCCCCAG c.540
E E Q L R D V R A R L G L P V L P L P Q p.180
. . . . . . g.10661
CCACTGCCACTGTCCACGGGGTCAGTGATCACCACCCAGGGAGTCTGCCTGGGCATGCGT c.600
P L P L S T G S V I T T Q G V C L G M R p.200
. | 07 . . . . g.11092
CTTGCTCAGCTCAGCCAAG | AGGACGTAGTTCTGCACTCAGAGAGCAGCTCCCTCTCAGAG c.660
L A Q L S Q E | D V V L H S E S S S L S E p.220
. . | 08 . . . . g.11507
TCTGGGGCCAGCCATGACAACG | AGGAGCCCCATGGCTGCTTCTCTCTGGCCGAGCGCCCC c.720
S G A S H D N E | E P H G C F S L A E R P p.240
. . . . . . g.11567
TCACCACCCAAGGCTTGGGACCAGCTGCGGGCAGTATCTGGGGGGAGCCCTGAGCGGCGA c.780
S P P K A W D Q L R A V S G G S P E R R p.260
. . . . . . g.11627
ACCCCATGGAAACCACCTCCATCAGATCTTTATGGGGATCTGAAGAGCCGGCGGAACTCT c.840
T P W K P P P S D L Y G D L K S R R N S p.280
. | 09. . . . . g.11805
GTGGCCAGCCCCACCAG | CCCCACACGCTCGCTGCCCAGGAGTGCCTCCAGTTTTGAGGGG c.900
V A S P T S | P T R S L P R S A S S F E G p.300
. . . . . | 10 . g.13200
CGAAGTGTGCCTGCCACCCCTGTCCTCACCCGGGGCGCTGGCCCCCAGCTCTGCAA | ACCT c.960
R S V P A T P V L T R G A G P Q L C K | P p.320
. . . . . . g.13260
GAAGGCCTTCATTCTCGTCAGTGGTCCGGCAGCCAGGACTCCCAGATGGGCTTCCCCCGG c.1020
E G L H S R Q W S G S Q D S Q M G F P R p.340
. . . . . . g.13320
GCGGACCCTGCCTCCGATCGCGCCTCCCTCTTCGTAGCTCGCACCCGCCGCAGCAACAGT c.1080
A D P A S D R A S L F V A R T R R S N S p.360
. . . . . . g.13380
TCTGAGGCCCTGCTGGTGGACCGGGCCGCTGGTGGGGGAGCTGGCTCCCCGCCTGCCCCT c.1140
S E A L L V D R A A G G G A G S P P A P p.380
. . . . . . g.13440
CTGGCTCCCTCTGCCTCTGGCCCCCCAGTCTGCAAGAGCAGTGAGGTGCTGTATGAGCGC c.1200
L A P S A S G P P V C K S S E V L Y E R p.400
. . . . . . g.13500
CCCCAACCAACCCCTGCCTTCTCCTCCCGCACAGCAGGCCCCCCAGACCCTCCCCGGGCC c.1260
P Q P T P A F S S R T A G P P D P P R A p.420
. . . . . . g.13560
GCCCGGCCTAGCTCAGCTGCCCCTGCCTCCCGAGGTGCCCCCCGGCTCCCACCTGTGTGT c.1320
A R P S S A A P A S R G A P R L P P V C p.440
. . . . . . g.13620
GGAGACTTCCTCTTGGACTATTCCTTGGACCGGGGCCTGCCCCGCAGTGGCGGTGGAACA c.1380
G D F L L D Y S L D R G L P R S G G G T p.460
. . . . . . g.13680
GGCTGGGGGGAGCTGCCGCCTGCAGCTGAGGTCCCAGGACCCCTCTCCCGCCGGGATGGG c.1440
G W G E L P P A A E V P G P L S R R D G p.480
. . . . . . g.13740
CTCCTCACCATGCTCCCCGGCCCACCACCTGTGTATGCAGCTGACAGCAACAGCCCCCTC c.1500
L L T M L P G P P P V Y A A D S N S P L p.500
. . . . . . g.13800
CTCCGCACCAAGGACCCCCACACCCGTGCCACCCGCACTAAGCCCTGTGGCCTGCCCCCA c.1560
L R T K D P H T R A T R T K P C G L P P p.520
. . . . . . g.13860
GAGGCTGCCGAAGGCCCTGAGGTGCATCCAAACCCTCTGCTGTGGATGCCCCCACCCACC c.1620
E A A E G P E V H P N P L L W M P P P T p.540
. . . . . . g.13920
CGTATCCCCTCGGCTGGTGAACGCAGTGGCCACAAGAACCTGGCTCTGGAGGGGCTGCGG c.1680
R I P S A G E R S G H K N L A L E G L R p.560
. . . . . . g.13980
GACTGGTACATCCGGAACTCGGGACTGGCTGCGGGGCCCCAGCGCCGGCCTGTGCTCCCT c.1740
D W Y I R N S G L A A G P Q R R P V L P p.580
. . . . . . g.14040
TCCGTGGGCCCGCCACACCCACCCTTCCTCCATGCCCGCTGCTATGAGGTGGGCCAGGCG c.1800
S V G P P H P P F L H A R C Y E V G Q A p.600
. . . . . . g.14100
CTGTACGGGGCCCCCAGCCAGGCGCCACTCCCACACTCGAGGAGTTTCACGGCGCCCCCT c.1860
L Y G A P S Q A P L P H S R S F T A P P p.620
. . . g.14133
GTCTCTGGCAGGTATGGGGGGTGCTTTTACTGA c.1893
V S G R Y G G C F Y X p.630
. . . . . . g.14193
tgggtaggggtctcgtaaggcagatggcgaagatatccaggccagggagtggctagtcat c.*60
. . . . . . g.14253
gatagctaatgaattggaccatgaggaaactagctgctgtgatggcacagggtcactcta c.*120
. . . . . . g.14313
ctgcacatgacctgcattagtccatggggtcctggtggaggggatcttgggcactggtag c.*180
. . . . . . g.14373
cagcaattctttatcaagttataggctgaagatgagccttgaagccagggtgccgggagg c.*240
. . . . . . g.14433
aagggacatctcatgccccttgctgttttcttccttttttctccatgccccagagcctga c.*300
. . . . . . g.14493
aagtgctgtcctgtgcctgcctccacctctttaacgagcctcttttcctttctttttctg c.*360
. . . . . . g.14553
tgtcttgtctgtcttttcttcttcttgtcttccccgccctgtcctccggattcctgctac c.*420
. . . . . . g.14613
cccttctaaagatactacgcggacttcctgtatcccccggagctgagcgctcgtttaagt c.*480
. . . . . . g.14673
gacctgacgctagagggggagcagtcctccagttctgacacccagaccccggggacactg c.*540
. . . . . . g.14733
gtctgaccccttctgatatgtcccttgttggcctgggcacgattccaatctggggagcac c.*600
. . . . . . g.14793
acagctgacctcgctgggccctggggtgtggttgctctcagtcctgagcagagtgcgcca c.*660
. . . . . . g.14853
acctaatcttccaaggcccctggctccccgtaggcccaggaaggtgtctgacaccctgct c.*720
. . . . . . g.14913
tcttctctcacactgtgctggggactgggggccctcagctagcttaaaagaggggggatg c.*780
. . . . . . g.14973
atgtcatggggaccccaagccccttcctccatttatgtttacagttgtgacttaggtatt c.*840
. . . . . . g.15033
cactgtcttcctccaacactaggcgttttacaaaagggaaactgtgatctcatctggttg c.*900
. . . . . . g.15093
ggttcattcctgttcccatgcccaaccaggttccattcaggaaccccctccataaaatgg c.*960
. . . . . . g.15153
accatatcgggtctcagggccatttagggcagccaggagactccggtgtgaacagaaatc c.*1020
. . . . . . g.15213
cctgccacgcatcgccagggcagttggggcagtgggctctctgcccacacttggaaggac c.*1080
. . . . . . g.15273
tgcagtctgggtgggatgcctgaaagagcccaaccccctctgtgcccatggcctctgccc c.*1140
. . . . . . g.15333
tgaccacccccagtcaggaggccccacaggaggggcacccggtagatgccagtgaaatcc c.*1200
. . . . . . g.15393
tcaggggaggtctgcctgaaagagcccaaccccctctgtgcccatggcctctgccctgac c.*1260
. . . . . . g.15453
cacccccagtcaggaggccccacaggaggggcacccggtagatgccagtgaaatcctcag c.*1320
. . . . . . g.15513
gtgaggtctgcctacgggccacgggccactcaccactcacaccttccttggctttccttc c.*1380
. . . . . . g.15573
cacccttttttttttctcgagacggagtcttgctctgtcaccaggctggagtgcagcggc c.*1440
. . . . . . g.15633
gcaatctcagctcactgcaacctctgcctcctgggttctcctgcctcaccctcccgagta c.*1500
. . . . . . g.15693
gctgggattacaggcacacgccaccatgcccggctaatttttgtattcttagtagagaca c.*1560
. . . . . . g.15753
aggtttcaccatattggccaggctggtcttgaactcttgacctcgtgatctgcccgcctt c.*1620
. . . . . . g.15813
ggcctcccaaagtgctgggattacagccgtgagccactgcacccagccccaatccaccac c.*1680
. . . . . . g.15873
tttttaagcaaacccacacaagttgtgttttctatgatacctgtctgtgattttcggagc c.*1740
. . . . . . g.15933
tgggggttcccctacccccttttcctggcgttaagcttttctttttataccagtggatct c.*1800
. . . . . . g.15993
ggacccaagacattacccacactggaaggggatttgtataataaatgtgtaaactgaacc c.*1860
g.15995
ca c.*1862
(downstream sequence)
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