(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_153603.3 in the COG7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021287.1, covering COG7 transcript NM_153603.3.
(upstream sequence)
. g.5017
gcgagggtcattcccag c.-181
. . . . . . g.5077
ccgcaaactgagtgcgctgagcggggaagcgcaaaggggcaagttacccgtcctggcgtt c.-121
. . . . . . g.5137
tctggggttcgcctcggaggctagcctcggtgctctcgcaggctcgctcgcttctgcatc c.-61
. . . . . . g.5197
cccgttgccgcccggagccaactcttaagttctggacgccaggcctgaggcagttccgcc c.-1
. . . . . . g.5257
ATGGACTTCTCCAAGTTCCTGGCAGACGACTTCGACGTGAAGGAGTGGATCAATGCGGCC c.60
M D F S K F L A D D F D V K E W I N A A p.20
. . . . . . g.5317
TTCAGGGCCGGCTCCAAGGAGGCGGCGTCCGGGAAGGCGGATGGCCACGCAGCCACCCTG c.120
F R A G S K E A A S G K A D G H A A T L p.40
. . . . | 02 . g.12241
GTGATGAAGCTGCAGCTGTTCATCCAAGAGGTGAACCACGCCGTGGAGG | AAACAAGTCAC c.180
V M K L Q L F I Q E V N H A V E E | T S H p.60
. . . . . . g.12301
CAAGCTCTCCAGAACATGCCCAAAGTGCTCCGTGATGTTGAAGCCCTAAAACAGGAGGCA c.240
Q A L Q N M P K V L R D V E A L K Q E A p.80
. . . . . . g.12361
TCTTTCCTGAAAGAACAGATGATTCTTGTCAAGGAGGACATTAAAAAATTTGAACAGGAC c.300
S F L K E Q M I L V K E D I K K F E Q D p.100
. | 03 . . . . g.13069
ACATCTCAATCCATGCAG | GTGTTGGTAGAAATTGACCAAGTGAAGTCCAGAATGCAACTT c.360
T S Q S M Q | V L V E I D Q V K S R M Q L p.120
. . . . . . g.13129
GCTGCCGAATCTCTTCAGGAAGCAGATAAGTGGAGCACGTTGAGCGCCGATATTGAGGAG c.420
A A E S L Q E A D K W S T L S A D I E E p.140
. | 04 . . . . . g.15591
ACATTTAAGACTCAG | GACATAGCTGTGATTTCTGCCAAGCTAACAGGTATGCAGAACAGC c.480
T F K T Q | D I A V I S A K L T G M Q N S p.160
. . . . . . g.15651
TTAATGATGCTTGTTGATACACCAGACTACTCAGAAAAGTGTGTGCACTTGGAGGCACTG c.540
L M M L V D T P D Y S E K C V H L E A L p.180
. . . . . . g.15711
AAGAACAGGCTGGAGGCCCTAGCCAGTCCACAGATTGTAGCGGCATTCACCTCTCAGGCT c.600
K N R L E A L A S P Q I V A A F T S Q A p.200
| 05 . . . . . . g.23529
GTAG | ATCAGTCCAAAGTGTTTGTGAAGGTGTTTACTGAAATTGACCGGATGCCCCAGCTC c.660
V D | Q S K V F V K V F T E I D R M P Q L p.220
. . | 06. . . . g.24557
CTGGCCTACTACTACAAGTGTCACAAG | GTGCAGCTTTTAGCAGCCTGGCAAGAGCTGTGT c.720
L A Y Y Y K C H K | V Q L L A A W Q E L C p.240
. . . . . . g.24617
CAAAGTGACCTATCCCTGGACCGGCAGCTTACCGGACTCTATGATGCCTTGCTTGGTGCT c.780
Q S D L S L D R Q L T G L Y D A L L G A p.260
. . . | 07 . . . g.33274
TGGCACACACAAATCCAGTGGGCTACACAG | GTTTTCCAGAAGCCCCACGAGGTGGTAATG c.840
W H T Q I Q W A T Q | V F Q K P H E V V M p.280
. . . . . . g.33334
GTGCTGCTGATTCAGACCCTGGGGGCCCTCATGCCCTCGCTGCCCTCCTGCCTCAGCAAC c.900
V L L I Q T L G A L M P S L P S C L S N p.300
. . . . . . g.33394
GGCGTGGAGAGGGCAGGGCCCGAGCAGGAGCTCACCAGGCTGCTGGAGTTCTACGACGCC c.960
G V E R A G P E Q E L T R L L E F Y D A p.320
. . . . | 08 . g.39375
ACCGCCCACTTCGCCAAGGGCTTGGAGATGGCACTGCTCCCCCACCTAC | ATGAACACAAT c.1020
T A H F A K G L E M A L L P H L H | E H N p.340
. . . . . . g.39435
CTGGTAAAAGTCACGGAGCTGGTGGATGCTGTGTATGATCCATACAAACCCTACCAGCTG c.1080
L V K V T E L V D A V Y D P Y K P Y Q L p.360
. . . . . | 09. g.41073
AAGTATGGCGACATGGAAGAGAGCAACCTCCTCATCCAGATGAGTGCTGTGCCTCTG | GAG c.1140
K Y G D M E E S N L L I Q M S A V P L | E p.380
. . . . . . g.41133
CATGGGGAAGTGATTGACTGTGTGCAGGAGCTGAGCCACTCCGTGAACAAGCTGTTTGGT c.1200
H G E V I D C V Q E L S H S V N K L F G p.400
. . . . . . g.41193
CTGGCGTCTGCAGCCGTTGACAGATGCGTCAGATTCACCAATGGCCTGGGGACCTGCGGC c.1260
L A S A A V D R C V R F T N G L G T C G p.420
. . . | 10 . . . g.44655
CTGTTGTCAGCCCTGAAATCCCTCTTTGCCAA | GTATGTGTCTGATTTCACCAGCACTCTC c.1320
L L S A L K S L F A K | Y V S D F T S T L p.440
. . . . . . g.44715
CAGTCCATACGAAAGAAGTGCAAACTGGACCACATTCCTCCCAACTCCCTCTTCCAGGAA c.1380
Q S I R K K C K L D H I P P N S L F Q E p.460
. . | 11 . . . g.47862
GATTGGACGGCTTTTCAGAACTCCATTAG | GATAATAGCCACCTGTGGAGAGCTTTTGCGG c.1440
D W T A F Q N S I R | I I A T C G E L L R p.480
. . . | 12 . . . g.51954
CATTGTGGGGACTTCGAGCAGCAGCTAGCCAACAG | GATTTTGTCCACAGCTGGGAAGTAT c.1500
H C G D F E Q Q L A N R | I L S T A G K Y p.500
. . . . . . g.52014
CTATCTGATTCCTGCAGCCCCCGGAGCCTGGCTGGTTTTCAGGAGAGCATCTTGACAGAC c.1560
L S D S C S P R S L A G F Q E S I L T D p.520
. . . . . . g.52074
AAGAAGAACTCTGCCAAGAACCCATGGCAAGAATATAATTACCTCCAGAAAGATAACCCT c.1620
K K N S A K N P W Q E Y N Y L Q K D N P p.540
. . . . | 13 . . g.54375
GCTGAATATGCCAGTTTAATGGAAATACTTTATACCCTTAAG | GAAAAAGGGTCAAGCAAC c.1680
A E Y A S L M E I L Y T L K | E K G S S N p.560
. . . . . . g.54435
CACAACCTGCTGGCTGCACCTCGAGCAGCGCTGACTCGGCTTAACCAGCAGGCCCACCAG c.1740
H N L L A A P R A A L T R L N Q Q A H Q p.580
. . . . . . g.54495
CTGGCTTTCGATTCCGTGTTCCTGCGCATCAAACAACAGCTGTTGCTTATTTCGAAGATG c.1800
L A F D S V F L R I K Q Q L L L I S K M p.600
| 14 . . . . . . g.60119
GAC | AGCTGGAATACGGCTGGCATCGGAGAAACCCTCACAGATGAACTGCCCGCCTTTAGT c.1860
D | S W N T A G I G E T L T D E L P A F S p.620
. . | 15. . . . g.64877
CTCACCCCTCTCGAGTACATCAGCAAC | ATCGGGCAGTACATCATGTCCCTCCCCCTGAAT c.1920
L T P L E Y I S N | I G Q Y I M S L P L N p.640
. . . . . . g.64937
CTTGAGCCATTTGTGACTCAGGAGGACTCTGCCTTAGAGTTGGCATTGCACGCTGGAAAG c.1980
L E P F V T Q E D S A L E L A L H A G K p.660
. . | 16 . . . . g.65706
CTGCCATTTCCTCCTGAGCAGG | GGGATGAATTGCCCGAGCTGGACAACATGGCTGACAAC c.2040
L P F P P E Q G | D E L P E L D N M A D N p.680
. . . . . . g.65766
TGGCTGGGCTCGATCGCCAGAGCCACAATGCAGACCTACTGTGATGCGATCCTACAGATC c.2100
W L G S I A R A T M Q T Y C D A I L Q I p.700
. . . . | 17 . . g.69119
CCTGAGCTGAGCCCACACTCTGCCAAGCAGCTGGCCACTGACATCG | ACTATCTGATCAAC c.2160
P E L S P H S A K Q L A T D I D | Y L I N p.720
. . . . . . g.69179
GTGATGGATGCCCTGGGCCTGCAGCCGTCCCGCACCCTCCAGCACATCGTGACGCTACTG c.2220
V M D A L G L Q P S R T L Q H I V T L L p.740
. . . . . . g.69239
AAGACCAGGCCTGAGGACTATAGACAGGTCAGCAAAGGCCTGCCCCGTCGCCTGGCCACC c.2280
K T R P E D Y R Q V S K G L P R R L A T p.760
. . . g.69272
ACCGTGGCCACCATGCGGAGTGTGAATTACTGA c.2313
T V A T M R S V N Y X p.770
. . . . . . g.69332
ccccaccacacaccggaccaccaagagagccagggctgctgtttcgcgactcaccagcac c.*60
. . . . . . g.69392
agatttgctcagaaactctgcccaagattgggcagaagttactttaaaaagacttggttc c.*120
. . . . . . g.69452
agctggtcacggtggctcacgcctgtaatcccagcactttgggaggccaagccagatgga c.*180
. . . . . . g.69512
tcatgaagccaggagttcgagaccagcctgaccaacatggtgaaaccccatctctactaa c.*240
. . . . . . g.69572
aaatacaaaaattaacagcagagcgagactctgtctcaaaaaaaaaaaaaaaaaagactt c.*300
. . . . . . g.69632
ggttcatttgtataatcaaaaagagttgtaaattaaagatgtattatttatcagagaaga c.*360
. . . . . . g.69692
ctttttagataatttttttaaaggatcagatcttgaaaatggaataaataactactgtga c.*420
g.69699
aatgcaa c.*427
(downstream sequence)
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