(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001145079.1 in the COG6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028352.1, covering COG6 transcript NM_001145079.1.
(upstream sequence)
. . . . g.5040
gatgcgcatgcgcggccgatttgcacatgcgcaatactcg c.-61
. . . . . . g.5100
cgctgcctccgtggtccctgcctggctgaggtggcagcagggggcgggacgcgcagcgct c.-1
. . . . . . g.5160
ATGGCAGAGGGCAGCGGGGAAGTGGTCGCAGTGTCTGCGACCGGGGCTGCCAACGGCCTC c.60
M A E G S G E V V A V S A T G A A N G L p.20
. . . . . . g.5220
AACAATGGGGCAGGCGGGACCTCGGCGACGACCTGCAACCCGCTGTCGCGCAAGCTGCAT c.120
N N G A G G T S A T T C N P L S R K L H p.40
. . . | 02 . . . g.8764
AAGATCCTGGAGACGCGGCTGGACAACGACAAG | GAGATGTTAGAAGCTCTCAAGGCACTT c.180
K I L E T R L D N D K | E M L E A L K A L p.60
. . . . . . g.8824
TCAACCTTTTTTGTTGAAAATAGTCTGCGGACTCGAAGAAATTTACGTGGAGATATTGAA c.240
S T F F V E N S L R T R R N L R G D I E p.80
. . . . . | 03. g.10186
CGTAAAAGTTTAGCCATCAATGAAGAATTTGTAAGCATTTTCAAGGAAGTGAAGGAG | GAA c.300
R K S L A I N E E F V S I F K E V K E | E p.100
. . . . . . g.10246
CTTGAAAGCATAAGCGAAGATGTTCAAGCAATGAGCAACTGTTGTCAAGATATGACAAGT c.360
L E S I S E D V Q A M S N C C Q D M T S p.120
| 04 . . . . . g.14520
CGCCTACAG | GCAGCAAAGGAACAGACTCAAGATTTAATAGTAAAAACCACTAAGCTTCAA c.420
R L Q | A A K E Q T Q D L I V K T T K L Q p.140
| 05 . . . . . g.26893
TCTGAAAG | CCAAAAATTAGAGATAAGAGCTCAAGTTGCAGATGCCTTCTTATCCAAGTTC c.480
S E S | Q K L E I R A Q V A D A F L S K F p.160
. . . . . . g.26953
CAACTGACTTCTGATGAAATGAGTCTTCTCCGAGGTACAAGAGAAGGACCCATTACTGAG c.540
Q L T S D E M S L L R G T R E G P I T E p.180
| 06 . . . . . . g.28971
| GATTTTTTCAAGGCACTGGGAAGAGTAAAACAGATTCATAATGATGTCAAAGTTCTCTTG c.600
| D F F K A L G R V K Q I H N D V K V L L p.200
. . | 07 . . . . g.29385
CGTACAAATCAACAAACGGCAGG | TTTAGAAATTATGGAACAGATGGCCTTACTTCAAGAA c.660
R T N Q Q T A G | L E I M E Q M A L L Q E p.220
. . . | 08 . . . g.31570
ACGGCTTATGAAAGACTTTACCGATGGGCTCAAA | GTGAATGCAGAACATTGACACAAGAA c.720
T A Y E R L Y R W A Q S | E C R T L T Q E p.240
. . . . . . g.31630
TCATGTGACGTATCTCCAGTATTGACACAGGCAATGGAAGCCCTGCAGGACAGACCTGTC c.780
S C D V S P V L T Q A M E A L Q D R P V p.260
| 09 . . . . . g.36928
TTATATAA | ATATACCTTAGATGAATTTGGAACAGCCAGAAGAAGTACAGTTGTTCGTGGA c.840
L Y K | Y T L D E F G T A R R S T V V R G p.280
. . . . . . g.36988
TTTATTGATGCGCTCACAAGAGGGGGCCCCGGAGGTACACCTAGACCAATTGAAATGCAT c.900
F I D A L T R G G P G G T P R P I E M H p.300
. | 10. . . . . g.37124
TCTCATGACCCTTTGAG | GTATGTAGGAGATATGTTGGCTTGGCTCCATCAAGCTACTGCT c.960
S H D P L R | Y V G D M L A W L H Q A T A p.320
. . . . | 11 . g.39144
TCTGAAAAGGAACACCTTGAAGCTCTCTTAAAGCATGTAACTACACAAG | GTGTTGAAGAA c.1020
S E K E H L E A L L K H V T T Q G | V E E p.340
. . . . . | 12 . g.44013
AATATTCAAGAAGTTGTTGGGCATATCACTGAAGGTGTGTGCAGGCCTCTAAAG | GTTCGA c.1080
N I Q E V V G H I T E G V C R P L K | V R p.360
. . . . . . g.44073
ATTGAGCAAGTAATAGTTGCTGAACCTGGGGCAGTTTTATTATATAAAATTTCTAATCTC c.1140
I E Q V I V A E P G A V L L Y K I S N L p.380
. . | 13 . . . . g.48908
CTCAAATTTTATCACCATACAATCAG | TGGTATTGTTGGAAATAGTGCAACTGCATTATTG c.1200
L K F Y H H T I S | G I V G N S A T A L L p.400
. . . . . . g.48968
ACTACCATTGAAGAAATGCATTTGCTAAGCAAAAAAATATTCTTCAATAGCTTGAGTCTT c.1260
T T I E E M H L L S K K I F F N S L S L p.420
. . | 14 . . . . g.68645
CATGCAAGTAAATTAATGGACAAG | GTTGAACTCCCACCACCTGATCTTGGACCAAGTTCT c.1320
H A S K L M D K | V E L P P P D L G P S S p.440
. . . . . . g.68705
GCACTAAATCAGACACTCATGTTGCTGCGTGAAGTTTTAGCATCTCACGATTCTTCAGTT c.1380
A L N Q T L M L L R E V L A S H D S S V p.460
. . . | 15 . . . g.69057
GTACCATTAGATGCTCGTCAAGCTGATTTTGTGCAG | GTTTTATCATGTGTCTTGGATCCT c.1440
V P L D A R Q A D F V Q | V L S C V L D P p.480
. . . . . . g.69117
CTCCTACAGATGTGTACTGTATCAGCCAGCAATTTAGGCACAGCTGACATGGCCACTTTC c.1500
L L Q M C T V S A S N L G T A D M A T F p.500
. . . . . . g.69177
ATGGTCAATTCACTATATATGATGAAGACAACATTAGCTCTATTTGAATTCACTGACAGA c.1560
M V N S L Y M M K T T L A L F E F T D R p.520
. . | 16 . . . . g.72742
CGTCTGGAAATGCTACAGTTTCAG | ATCGAAGCACATTTGGACACACTTATAAATGAGCAA c.1620
R L E M L Q F Q | I E A H L D T L I N E Q p.540
. . . . . . g.72802
GCCTCTTATGTTTTAACTAGGGTAGGCTTGAGTTACATCTATAACACTGTACAGCAACAT c.1680
A S Y V L T R V G L S Y I Y N T V Q Q H p.560
. | 17 . . . . . g.73929
AAACCTGAACAG | GGCTCTTTAGCTAATATGCCCAACCTAGATTCTGTGACACTGAAGGCT c.1740
K P E Q | G S L A N M P N L D S V T L K A p.580
| 18 . . . . . . g.76896
GCAATG | GTTCAGTTTGATCGTTATCTGTCAGCCCCAGACAACCTATTGATACCACAGCTG c.1800
A M | V Q F D R Y L S A P D N L L I P Q L p.600
. . | 19 . . g.137742
AACTTTCTTCTAAGTGCCACAGTGAA | GCGTCCACCCAACGGCCCATGA c.1848
N F L L S A T V K | R P P N G P X p.615
. . . . . . g.137802
tcatcttgtaaccagtgcaggaccttgtgcttctggagccattccagttgtgggaggtga c.*60
. . . . . . g.137862
tgtctcggaaaactctgccttggggactggctatagaaatgtggccagatggctttgtca c.*120
. . . . . . g.137922
tcttcccctgtctactctgtgactcttcatctggtggaaatgctgtgagggatgaaccaa c.*180
. . . . . . g.137982
atggaaactcagatttactcttcagaataatgcggatcataatacgcacacacacagcat c.*240
. . . . . . g.138042
gtagagttgctgtgtggcttaaataagtaaatgtatgcaaagcactaaaatggtgtctgt c.*300
. . . . . . g.138102
ctaagtgtaaacaccaattgtgttggctattatcactattgttgttcttatctcaaatat c.*360
. . . . . . g.138162
gtgttactttctaaataactttagtgttcatagattgttaaaagacaagatgacctgaag c.*420
. . . . . . g.138222
aaaagtaagccctaaaaatccattattaacttttttctccaccactcttttcttctaaac c.*480
. . . . . . g.138282
ttcactattctttgtgttttcacaaaagttgcttacttcacctggcagagatagcattac c.*540
. . . . . . g.138342
gcaggggatgattaaaatatactcacttgtacttgttggttttaaattttattatttatg c.*600
. . . . . . g.138402
aataggtaatagcatgtacactgtaaaaatctcaaaaggcaaaaaaggatatacagtaaa c.*660
. . . . . . g.138462
cattaagttcctcttaccctggaccttagccatcaagttctcttccccataggcaatccc c.*720
. . . . . . g.138522
tgttgcctaatttccaattcccctgcatactttaaagatcatctgtgcatctgcactcag c.*780
. . . . . . g.138582
accactcacacgtctaaaacaaatgatagcacactacacacaaagttctgttccttttta c.*840
. . . . . . g.138642
tgctcaatgatatgttttgcatcatatttcactgccgtataaataatgctgcctcgattt c.*900
. . . . . . g.138702
ttaaaataactgaacagtaatacacagtatgaatttactccaatttataatccaatcctt c.*960
. . . . . . g.138762
agttaatggatattttgattttgttgttaagaatcatgcagcaatgatgtacctgttaga c.*1020
. . . . . . g.138822
catgagttattaatttctcttcgaagaatcaatatgtcactacgttcaattctttgcctt c.*1080
. . . . . . g.138882
ctacttttaaacttcacttcctcataaagcaaccttttgcgatcatctgctccaccctga c.*1140
. . . . . . g.138942
ctcattccaatcacctgctccaccctgactcattctgatcacctgctctgcccagactca c.*1200
. . . . . . g.139002
ttcccatcacctgctccaccctgacttattccaattacctgctccaccctgtctcattct c.*1260
. . . . . . g.139062
ccaccctgactcattccataaccatttttcccaccaaaccagtcaccccctcaccctctt c.*1320
. . . . . . g.139122
taaattagctaatcggaattagtttagcttgtgtggtctaacctagccaatagatgaatg c.*1380
. . . . . . g.139182
acacagcagcaggagccacgttcgtcagggataagaacaccttccccttccttgtccagg c.*1440
. . . . . . g.139242
ggtgtactcaccattgctccatctgtgagggcgcacccttctatagaagtaaattgcctt c.*1500
. . . . . . g.139302
gctgagaagaaaaaaagaaaattttatatttgagtgctatttattttgtggcaccaaaac c.*1560
. . . . . . g.139362
tatttataacatacctgatctttattttaaatttttgtttatttaaatattaaatatatt c.*1620
. . . . . . g.139422
atccacctggtattaatttgtttaaataaatgtgaggtagggttccattgctatttttta c.*1680
. . . . . . g.139482
accaggtaggttatattgactaaccttcactttgaaagtgatttgaaatacacttttcat c.*1740
. . . . . . g.139542
ttattaaattctcccttgtgtttaggcagtaaggcataatatttgagagtgtgggctctg c.*1800
. . . . . . g.139602
cagtccagctatctgggtttgaagtttatctcctttatttgcgagtggtacaaacttgaa c.*1860
. . . . . . g.139662
caaattatgtaatttgtttttctcaattccctcatgcactaagtgaggataaaaatagca c.*1920
. . . . . . g.139722
ataacaccatgagattgctgataacaaaatgcaaggtaaaaattgtgtaaggcttaaaat c.*1980
. . . . . . g.139782
tgtgtagcctggtatacaagaggctctaaataacataagctattattgcttttctactta c.*2040
. . . . . . g.139842
ttattatttctggcttttgtagtctttttcccattgttgatctttctactattcacaaag c.*2100
. . . . . . g.139902
catgagtctagtatctgtagatttataaactaattaatgtaacttttcaatatgttttaa c.*2160
. . . . . . g.139962
tatctcatagatactgttcttcctcattacttttctattttataaatttctatttcatct c.*2220
. . . . . . g.140022
gcttcataaattttgcattctcataaactaagaatcatctcctgtagttaaaaaatattg c.*2280
. . . . . . g.140082
tttgtatttttgttgggagtagagtgaattaaaatatattgacttaaggagaactgacat c.*2340
. . . . . . g.140142
ctttataatattgaatcttcctgtttgagattggactttatgtccatattttaaagtctt c.*2400
. . . . . . g.140202
tgtttatgaccctaagtataattttaacgtttttatattaggcttatttctagatacttt c.*2460
. . . . . . g.140262
ttgttaatatatcatctaactggttgttcttcatatatataatgactatgaattttttct c.*2520
. . . . . . g.140322
cagtcttttttctgaattctcacatcatttgtgttatatttttaagttgattctcttgag c.*2580
. . . . . . g.140382
tttttcaggtaaacaattatatcacctataaaaataatgttgccaccttaaattaagaaa c.*2640
. . . . . . g.140442
atgtttttctattgtctaattgcatggactgttgcctcaggaacagtataagattgctta c.*2700
. . . . . . g.140502
caaaagccttgctttcttgttccagattttaaaaacaaggctttcaatgacaatctcgct c.*2760
. . . . . . g.140562
agcaagaagctggtatacttacatacatacatacaaacagacagacacccactttctata c.*2820
. . . . . . g.140622
tgtatatctagatagatttagatagacatatatgtgtgattcctgttaagatgaatctat c.*2880
. . . . . . g.140682
ttttggtatttaagattttaaaaatctagaatgggtattattatattgtattgaagctct c.*2940
. . . . . . g.140742
taagcatctatggaaatgaaagtatgattcttctctttcgactaattaatatgtgatcca c.*3000
. . . . . . g.140802
tagtattttagtaacagatttcctaatatcgaatgatctaggcattgattctagcagatt c.*3060
. . . . . . g.140862
atgtctatgggtattttatttaagattttgcatcagtattaataaatgaccatggtctat c.*3120
. . . . . . g.140922
gggtttgcttttttgtgtgctatgtttgcagagtgtttgtagtttacaagagatttttgc c.*3180
. . . . . . g.140982
aaacttctatttatgacaatatggtagattatatatctgaaaaaaaaaccttctcattac c.*3240
. . . . . . g.141042
agaacatatacaaaactgctgaataaaacgaggcaaccaacattttaaatatatggttaa c.*3300
g.141051
taaggtttt c.*3309
(downstream sequence)
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