(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_032382.4 in the COG8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009013.1, covering COG8 transcript NM_032382.4.
(upstream sequence)
. g.5011
ttcttcctgtc c.-61
. . . . . . g.5071
ctaagttcggagtcagcgccccttgtggtccggaagggaagtgacgttgttgctgggaag c.-1
. . . . . . g.5131
ATGGCGACCGCGGCGACTATCCCATCGGTAGCCACGGCCACAGCAGCGGCTCTCGGCGAG c.60
M A T A A T I P S V A T A T A A A L G E p.20
. . . . . . g.5191
GTGGAGGATGAAGGGCTCCTGGCGTCGCTGTTCCGGGACCGCTTCCCCGAGGCCCAGTGG c.120
V E D E G L L A S L F R D R F P E A Q W p.40
. . . . . . g.5251
CGCGAGCGGCCCGATGTGGGCCGCTACCTCCGGGAGTTGAGCGGCTCGGGGCTGGAGCGG c.180
R E R P D V G R Y L R E L S G S G L E R p.60
. . . . . . g.5311
CTGCGGCGCGAGCCCGAGCGCCTGGCGGAGGAGCGGGCGCAGCTGCTGCAGCAGACGCGC c.240
L R R E P E R L A E E R A Q L L Q Q T R p.80
. . . . . . g.5371
GACTTGGCCTTCGCTAACTACAAGACCTTCATCCGCGGCGCCGAGTGCACCGAGCGCATC c.300
D L A F A N Y K T F I R G A E C T E R I p.100
. . . . . . g.5431
CACCGCCTGTTTGGCGACGTGGAGGCGTCGCTCGGCCGCCTGCTCGACCGTTTGCCCAGC c.360
H R L F G D V E A S L G R L L D R L P S p.120
. | 02. . . . . g.7954
TTCCAGCAGAGCTGCAG | GAACTTTGTGAAGGAAGCCGAGGAGATCAGCTCCAACCGCCGG c.420
F Q Q S C R | N F V K E A E E I S S N R R p.140
. . . . . . g.8014
ATGAATAGCCTGACCCTAAACCGGCACACAGAAATTTTGGAAATACTGGAGATTCCTCAG c.480
M N S L T L N R H T E I L E I L E I P Q p.160
. . . . . . g.8074
CTCATGGACACCTGTGTCCGGAACAGTTATTATGAAGAGGCCCTGGAGCTTGCAGCCTAC c.540
L M D T C V R N S Y Y E E A L E L A A Y p.180
. . . . | 03 . . g.9290
GTACGCCGACTGGAGAGGAAATACTCTTCCATCCCTGTCATCCAG | GGCATCGTGAACGAA c.600
V R R L E R K Y S S I P V I Q | G I V N E p.200
. . . . . . g.9350
GTGCGCCAGTCCATGCAGCTGATGCTGAGCCAGCTGATCCAGCAACTGAGGACCAACATC c.660
V R Q S M Q L M L S Q L I Q Q L R T N I p.220
. . . . . . g.9410
CAGCTTCCTGCCTGCCTCCGTGTCATTGGCTACCTGCGGCGCATGGACGTCTTCACTGAG c.720
Q L P A C L R V I G Y L R R M D V F T E p.240
. . . . . . g.9470
GCTGAGTTGAGGGTGAAGTTTCTTCAGGCCCGAGATGCTTGGCTCCGGTCCATCCTGACT c.780
A E L R V K F L Q A R D A W L R S I L T p.260
. . . . . . g.9530
GCCATTCCTAATGATGATCCCTATTTCCATATTACAAAAACCATCGAGGCCTCCCGTGTC c.840
A I P N D D P Y F H I T K T I E A S R V p.280
. . . . . . g.9590
CATCTCTTTGATATCATCACCCAGTACCGTGCCATCTTCTCAGACGAGGACCCACTGCTG c.900
H L F D I I T Q Y R A I F S D E D P L L p.300
. . . . . . g.9650
CCCCCTGCCATGGGTGAGCACACTGTGAATGAGAGTGCCATCTTCCATGGCTGGGTGCTA c.960
P P A M G E H T V N E S A I F H G W V L p.320
. . . . . . g.9710
CAGAAGGTCTCACAATTCCTGCAGGTGCTGGAGACCGACCTTTACCGGGGCATAGGCGGC c.1020
Q K V S Q F L Q V L E T D L Y R G I G G p.340
. . . . . . g.9770
CACCTGGACTCTCTGCTGGGCCAGTGCATGTACTTTGGGCTGTCCTTCAGCCGGGTGGGA c.1080
H L D S L L G Q C M Y F G L S F S R V G p.360
. . . . . . g.9830
GCTGATTTCCGGGGTCAGTTGGCTCCTGTTTTCCAGCGGGTGGCCATCAGCACTTTCCAG c.1140
A D F R G Q L A P V F Q R V A I S T F Q p.380
. . . . . . g.9890
AAAGCAATTCAGGAAACAGTGGAGAAATTCCAGGAAGAAATGAACTCCTACATGCTCATC c.1200
K A I Q E T V E K F Q E E M N S Y M L I p.400
. . . . . . g.9950
TCGGCTCCAGCCATCCTGGGCACCAGTAACATGCCTGCTGCTGTGCCAGCCACCCAGCCG c.1260
S A P A I L G T S N M P A A V P A T Q P p.420
. . . . . . g.10010
GGGACGCTGCAGCCACCCATGGTGCTCCTAGATTTCCCACCCCTCGCCTGCTTTCTCAAC c.1320
G T L Q P P M V L L D F P P L A C F L N p.440
. . . . . . g.10070
AATATTCTGGTTGCCTTCAATGATCTGCGCCTCTGCTGCCCTGTGGCCCTGGCGCAGGAT c.1380
N I L V A F N D L R L C C P V A L A Q D p.460
. . . | 04 . . . g.11768
GTGACTGGGGCCTTGGAAGATGCCCTTGCCAAG | GTAACTAAAATAATCCTGGCCTTCCAT c.1440
V T G A L E D A L A K | V T K I I L A F H p.480
. . . . . . g.11828
CGCGCTGAAGAGGCTGCCTTCAGCAGCGGGGAGCAAGAGCTCTTTGTCCAGTTCTGCACT c.1500
R A E E A A F S S G E Q E L F V Q F C T p.500
. . . . . . g.11888
GTCTTCCTGGAAGACCTTGTTCCGTATTTAAATCGCTGTCTCCAAGTCCTTTTTCCACCA c.1560
V F L E D L V P Y L N R C L Q V L F P P p.520
. . | 05 . . . . g.13566
GCTCAGATAGCACAGACTTTAG | GCATTCCTCCCACTCAGCTCTCCAAGTACGGTAACCTA c.1620
A Q I A Q T L G | I P P T Q L S K Y G N L p.540
. . . . . . g.13626
GGGCATGTGAACATCGGCGCCATTCAGGAGCCCCTCGCCTTTATCCTGCCAAAGAGAGAG c.1680
G H V N I G A I Q E P L A F I L P K R E p.560
. . . . . . g.13686
ACGCTTTTCACCCTGGATGACCAGGCGCTGGGGCCCGAGCTCACAGCTCCAGCACCAGAG c.1740
T L F T L D D Q A L G P E L T A P A P E p.580
. . . . . . g.13746
CCTCCCGCCGAGGAGCCACGCCTGGAGCCCGCGGGCCCAGCCTGCCCGGAGGGAGGGCGA c.1800
P P A E E P R L E P A G P A C P E G G R p.600
. . . g.13785
GCGGAGACGCAGGCCGAACCGCCCAGCGTGGGGCCCTAG c.1839
A E T Q A E P P S V G P X p.612
. . | 06 . . . . g.15478
ccggcgtcccctgcctccagaacgcg | ggctggaccccaatggagaacaggtggtgtggca c.*60
. . . . . . g.15538
ggcgagcgggtgggcagcccgcatcatccagcacgagatggaccacctgcagggctgcct c.*120
. . . . . . g.15598
gtttattgacaaaatggacagcaggacgttcacaaacgtctattggatgaaggtgaatga c.*180
. . . . . . g.15658
ctaaagctttgctactggggctgaggattccggataccaagacgcaaacactttcacttt c.*240
. . . . . . g.15718
gagctgggcaaatcttacttggcatcaacttggatggctcgcatatgacaggaaactgga c.*300
. . . . . . g.15778
ttgccaaggcatggcagactgagctggaggaagatgtcagaaatgtttgccctgaaatca c.*360
. . . . . . g.15838
gttacggacaaaatgttggctacaacttgaggagaaaaatcacccccaaaggagtggaca c.*420
. . . . . . g.15898
tttcctaacaattctgtatggaggaaggtggggtaattgcattcgtctgcagtagacacg c.*480
. . . . . . g.15958
agttcctcggacctgtataatctcccaaagccaaggtttggtaataatgtagtccccaaa c.*540
. . . . g.16003
tacctgaaagctgtctttaaaaatgcaggtaagcatgtgactggc c.*585
(downstream sequence)
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