(used for variant description)
(last modified October 30, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015189.1 in the EXOC6B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering EXOC6B transcript NM_015189.1.
(upstream sequence)
. g.5018
gagcctgagggaggggtc c.-121
. . . . . . g.5078
ggcctgcgggtagccagaggctggggcggctgtggagcctgtggtgggagcggcattgtg c.-61
. . . . . . g.5138
gggcagggaaaaggtgagccgagccgacggaggggacgcgctgcggggcgcccccagtct c.-1
. . . . . . g.5198
ATGGAGCGGGGTAAGATGGCGGAGGCGGAGAGCCTGGAGACAGCGGCAGAGCACGAGCGG c.60
M E R G K M A E A E S L E T A A E H E R p.20
. . . . . | 02 . g.89586
ATCCTGCGAGAGATCGAGAGCACTGACACGGCCTGCATCGGGCCCACGCTCAG | GTCTGTT c.120
I L R E I E S T D T A C I G P T L R | S V p.40
. . . . . . g.89646
TATGATGGTGAAGAACATGGACGTTTCATGGAGAAGCTTGAAACTCGTATCCGTAATCAC c.180
Y D G E E H G R F M E K L E T R I R N H p.60
. . . . . . g.89706
GACCGAGAAATTGAGAAAATGTGCAACTTTCATTACCAGGGCTTTGTGGACTCTATAACT c.240
D R E I E K M C N F H Y Q G F V D S I T p.80
. . . | 03 . . g.97951
GAACTGCTGAAAGTGAGAGGAGAAGCCCAGAAACTCAAA | AATCAAGTGACGGATACTAAT c.300
E L L K V R G E A Q K L K | N Q V T D T N p.100
. . | 04. . . . g.99836
AGAAAACTACAACATGAGGGAAAGGAA | CTGGTAATAGCAATGGAAGAGCTGAAGCAGTGT c.360
R K L Q H E G K E | L V I A M E E L K Q C p.120
. . . . . | 05 g.99998
CGACTACAACAGAGAAATATTTCTGCCACTGTTGATAAATTAATGCTGTGTCTTCCAG | TC c.420
R L Q Q R N I S A T V D K L M L C L P V | p.140
. . . . | 06 . . g.112757
CTAGAGATGTACAGCAAACTGAGGGACCAGATGAAAACTAAAAG | GCATTATCCTGCACTG c.480
L E M Y S K L R D Q M K T K R | H Y P A L p.160
. . . . . . g.112817
AAAACTCTGGAACATCTAGAGCATACCTACCTGCCTCAAGTAAGCCACTATCGATTCTGC c.540
K T L E H L E H T Y L P Q V S H Y R F C p.180
. . . . . . g.112877
AAGGTGATGGTGGACAACATCCCCAAGCTTCGAGAAGAAATAAAAGATGTTTCTATGTCC c.600
K V M V D N I P K L R E E I K D V S M S p.200
. . . . . . g.112937
GATCTCAAAGACTTTCTGGAGAGCATCCGCAAACATTCAGACAAAATTGGAGAGACTGCC c.660
D L K D F L E S I R K H S D K I G E T A p.220
| 07 . . . . . g.255431
ATGAAGCAA | GCCCAGCAGCAAAGAAACCTGGATAACATCGTCTTGCAACAACCCAGAATA c.720
M K Q | A Q Q Q R N L D N I V L Q Q P R I p.240
. . . . . . g.255491
GGTAGCAAGAGGAAATCTAAGAAAGATGCATATATAATCTTTGATACAGAGATAGAAAGT c.780
G S K R K S K K D A Y I I F D T E I E S p.260
. . . . . . g.255551
ACTAGTCCGAAGTCTGAACAGGATTCAGGAATTCTGGATGTTGAAGACGAGGAAGATGAT c.840
T S P K S E Q D S G I L D V E D E E D D p.280
| 08 . . . . . . g.271581
GAAGAG | GTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACAT c.900
E E | V P G A Q D L V D F S P V Y R C L H p.300
. | 09 . . . . . g.315967
ATATATTCTGTCCTG | GGTGCCCGGGAAACATTTGAGAATTACTACCGAAAACAGAGGCGA c.960
I Y S V L | G A R E T F E N Y Y R K Q R R p.320
. . . | 10 . . g.316389
AAACAGGCTCGTTTGGTACTTCAACCTCCATCTAACATG | CATGAAACTTTAGATGGCTAC c.1020
K Q A R L V L Q P P S N M | H E T L D G Y p.340
. . | 11 . . . . g.317830
AGGAAGTATTTTAATCAAATTGTAGG | CTTTTTTGTGGTTGAAGATCACATTTTACATACA c.1080
R K Y F N Q I V G | F F V V E D H I L H T p.360
. . . . . . g.317890
ACCCAGGGCTTAGTAAATAGAGCCTACATTGATGAACTGTGGGAAATGGCACTTTCAAAA c.1140
T Q G L V N R A Y I D E L W E M A L S K p.380
. . | 12. . . . g.331109
ACCATCGCAGCACTCCGTACCCACTCG | TCTTACTGTTCTGATCCAAACCTTGTGTTAGAT c.1200
T I A A L R T H S | S Y C S D P N L V L D p.400
. . . | 13 . . g.332518
TTGAAGAACCTCATTGTGCTTTTTGCTGACACACTTCAG | GTGTATGGTTTCCCTGTAAAT c.1260
L K N L I V L F A D T L Q | V Y G F P V N p.420
. . . . . . g.332578
CAGCTTTTTGACATGCTGTTAGAAATCAGAGACCAATATAGTGAAACTCTGCTAAAGAAG c.1320
Q L F D M L L E I R D Q Y S E T L L K K p.440
. | 14. . . . . g.334532
TGGGCAGGTATTTTCAG | AAACATACTTGATTCTGACAACTACAGTCCTATACCAGTAACA c.1380
W A G I F R | N I L D S D N Y S P I P V T p.460
. . . . . . g.334592
AGTGAAGAGATGTACAAAAAGGTGGTAGGACAATTCCCATTTCAAGATATAGAACTGGAA c.1440
S E E M Y K K V V G Q F P F Q D I E L E p.480
| 15 . . . . . . g.335566
AAG | CAACCATTTCCAAAAAAGTTTCCTTTCTCTGAATTTGTGCCAAAAGTTTACAACCAA c.1500
K | Q P F P K K F P F S E F V P K V Y N Q p.500
. . . . . | 16 . g.338626
ATTAAAGAATTTATCTACGCTTGTCTGAAGTTTTCAGAAGATCTTCATCTAAG | CTCAACT c.1560
I K E F I Y A C L K F S E D L H L S | S T p.520
. . . . . . g.338686
GAAGTTGATGACATGATTCGGAAATCAACAAACCTGTTGCTAACCAGGACTCTGAGCAAC c.1620
E V D D M I R K S T N L L L T R T L S N p.540
. . . . | 17 . . g.350313
TCTCTGCAGAATGTAATTAAAAGGAAGAATATTGGGCTTACTGAG | CTTGTTCAGATTATT c.1680
S L Q N V I K R K N I G L T E | L V Q I I p.560
. . . . . . g.350373
ATCAATACAACACATTTGGAGAAATCCTGTAAGTACTTGGAAGAATTTATCACCAACATC c.1740
I N T T H L E K S C K Y L E E F I T N I p.580
. . . . . . g.350433
ACTAATGTGCTTCCAGAGACAGTTCACACTACCAAGCTCTATGGCACCACAACTTTTAAG c.1800
T N V L P E T V H T T K L Y G T T T F K p.600
| 18 . . . . . . g.365769
| GATGCTAGACATGCAGCTGAAGAAGAGATTTATACCAACTTAAACCAGAAGATTGACCAG c.1860
| D A R H A A E E E I Y T N L N Q K I D Q p.620
. . . . . . g.365829
TTCCTACAGCTGGCAGACTATGACTGGATGACCGGAGATTTGGGCAACAAAGCTAGTGAT c.1920
F L Q L A D Y D W M T G D L G N K A S D p.640
. . . . . . g.365889
TACCTGGTAGACCTCATTGCCTTTCTTCGTAGCACCTTTGCTGTATTCACACACCTTCCT c.1980
Y L V D L I A F L R S T F A V F T H L P p.660
| 19 . . . . . . g.451238
| GGAAAGGTGGCCCAGACAGCGTGTATGTCAGCTTGCAAGCATTTAGCCACATCCTTGATG c.2040
| G K V A Q T A C M S A C K H L A T S L M p.680
. . . . . . g.451298
CAACTTTTGTTGGAAGCTGAAGTGCGGCAGCTCACCTTGGGAGCATTACAGCAGTTCAAC c.2100
Q L L L E A E V R Q L T L G A L Q Q F N p.700
. . | 20 . . . . g.496066
TTGGACGTCAGAGAATGTGAAC | AGTTTGCCAGATCCGGCCCGGTGCCTGGGTTCCAGGAG c.2160
L D V R E C E Q | F A R S G P V P G F Q E p.720
. . . | 21 . . . g.646885
GACACGCTGCAGTTGGCCTTCATCGACTTGAGACAA | CTTTTGGATCTTTTCATCCAGTGG c.2220
D T L Q L A F I D L R Q | L L D L F I Q W p.740
. . . . . . g.646945
GATTGGTCAACCTACCTTGCTGACTATGGTCAGCCCAACTGCAAGTACCTCCGGGTAAAC c.2280
D W S T Y L A D Y G Q P N C K Y L R V N p.760
. . | 22 . . . g.651618
CCAGTGACTGCTCTGACCCTGCTTGAGAA | GATGAAGGATACTAGCCGCAAGAACAACATG c.2340
P V T A L T L L E K | M K D T S R K N N M p.780
. . . . . . g.651678
TTTGCACAGTTTCGGAAAAATGAGCGAGACAAGCAGAAACTCATTGACACCGTGGCCAAG c.2400
F A Q F R K N E R D K Q K L I D T V A K p.800
. . . g.651714
CAGCTCCGAGGACTCATCAGCAGCCACCACTCATGA c.2436
Q L R G L I S S H H S X p.811
. . g.651734
agggtgaccccggacccaca c.*20
(downstream sequence)
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