(used for variant description)
(last modified June 26, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_031466.5 in the TRAPPC9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016478.1, covering TRAPPC9 transcript NM_031466.5.
(upstream sequence)
. g.5015
aaagtcgggagtgcc c.-1
. . . . . . g.5075
ATGGTGCCAGCTGGGGATCAAGACCGCGCGCCACACAGGGGGAAGCCGGCCCAGGCTGGG c.60
M V P A G D Q D R A P H R G K P A Q A G p.20
. . . . . . g.5135
GCTCGCACCTCACGTGCCTCCCGGGCCCTGCGATCCTGGAGGCGCTCCCAGGCCGCGCGC c.120
A R T S R A S R A L R S W R R S Q A A R p.40
. . . . . . g.5195
GCCACGGTCACCCACCCACGTGGGGGGCACGACCGTGGGAGTCACGGGGGGTACCGTGAG c.180
A T V T H P R G G H D R G S H G G Y R E p.60
. . . . . . g.5255
GGTCACAGGGGGTGCCGCAGGGATCCACAGTGGGCTTCCGCGGGGCCTCCACCCCTGAGC c.240
G H R G C R R D P Q W A S A G P P P L S p.80
. . . . | 02 . . g.12212
TTCACAGAGGAAGTGAAATTTGAGCTGCGCGCCCTGAAGGACTG | GGACTTCAAAATGAGC c.300
F T E E V K F E L R A L K D W | D F K M S p.100
. . . . . . g.12272
GTCCCTGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCT c.360
V P D Y M Q C A E D H Q T L L V V V Q P p.120
. . . . . . g.12332
GTGGGCATCGTCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGT c.420
V G I V S E E N F F R I Y K R I C S V S p.140
. . . . . . g.12392
CAGATCAGCGTGCGGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCA c.480
Q I S V R D S Q R V L Y I R Y R H H Y P p.160
. . . . . . g.12452
CCCGAGAACAACGAGTGGGGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACC c.540
P E N N E W G D F Q T H R K V V G L I T p.180
. . . . . . g.12512
ATCACAGACTGCTTCTCGGCCAAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAG c.600
I T D C F S A K D W P Q T F E K F H V Q p.200
. . . . . . g.12572
AAGGAGATCTACGGCTCCACACTGTATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGG c.660
K E I Y G S T L Y D S R L F V F G L Q G p.220
. . . . . . g.12632
GAGATCGTGGAGCAGCCGCGCACCGACGTGGCTTTCTACCCCAACTACGAGGACTGCCAG c.720
E I V E Q P R T D V A F Y P N Y E D C Q p.240
. . . . . . g.12692
ACGGTGGAGAAGAGAATCGAGGACTTCATCGAGTCACTGTTCATCGTGCTGGAGTCCAAG c.780
T V E K R I E D F I E S L F I V L E S K p.260
. . . . . . g.12752
CGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGATCCCCCTTCTCTGTGTCCCGTTT c.840
R L D R A T D K S G D K I P L L C V P F p.280
. . . | 03 . . g.24404
GAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAG | ACATTACAAGAAGCGGTGCCAA c.900
E K K D F V G L D T D S R | H Y K K R C Q p.300
. . . . . . g.24464
GGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGATGCTGCAGGACTCC c.960
G R M R K H V G D L C L Q A G M L Q D S p.320
. . . . . . g.24524
CTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTTTCTGTGGCTT c.1020
L V H Y H M S V E L L R S V N D F L W L p.340
| 04 . . . . . . g.28395
GGAG | CTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGTGGAACT c.1080
G A | A L E G L C S A S V I Y H Y P G G T p.360
. . . . . . g.28455
GGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCAAT c.1140
G G K S G A R R F Q G S T L P A E A A N p.380
. | 05 . . . | 06 . . g.57901
AGACACCGGCCAG | GGGCACAGGAAGTTCTCATTGATCCAG | GTGCCCTCACCACCAATGGC c.1200
R H R P G | A Q E V L I D P G | A L T T N G p.400
. . . . . . g.57961
ATCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGAC c.1260
I N P D T S T E I G R A K N C L S P E D p.420
. . . . | 07 . . g.65852
ATAATTGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAG | TATAAGAATGCGGGAGTG c.1320
I I D K Y K E A I S Y Y S K | Y K N A G V p.440
. . . . . . g.65912
ATTGAGTTGGAAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATG c.1380
I E L E A C I K A V R V L A I Q K R S M p.460
. . . . | 08 . g.92411
GAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCTTCGACAG | CTTTCTGAGGAA c.1440
E A S E F L Q N A V Y I N L R Q | L S E E p.480
. . . . . . g.92471
GAGAAAATTCAGCGCTACAGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGC c.1500
E K I Q R Y S I L S E L Y E L I G F H R p.500
. . . . . . g.92531
AAGTCTGCGTTCTTCAAGCGCGTGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAG c.1560
K S A F F K R V A A M Q C V A P S I A E p.520
. . . . . . g.92591
CCTGGGTGGAGGGCCTGCTACAAACTCCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCG c.1620
P G W R A C Y K L L L E T L P G Y S L S p.540
. . | 09 . . . . g.103421
CTGGATCCCAAAGATTTCAGCAGAG | GCACGCACAGAGGCTGGGCTGCGGTCCAGATGCGT c.1680
L D P K D F S R G | T H R G W A A V Q M R p.560
. . . . . . g.103481
TTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGA c.1740
L L H E L V Y A S R R M G N P A L S V R p.580
. . . . | 10 . g.152216
CACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTTGTCGGATCAGG | AAAAGAAAGAT c.1800
H L S F L L Q T M L D F L S D Q E | K K D p.600
. . . . . . g.152276
GTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCC c.1860
V A Q S L E N Y T S K C P G T M E P I A p.620
. . . . . | 11 . g.162969
CTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAG | GCAT c.1920
L P G G L T L P P V P F T K L P I V R | H p.640
. . . . . . g.163029
GTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGT c.1980
V K L L N L P A S L R P H K M K S L L G p.660
. . . . . . g.163089
CAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGA c.2040
Q N V S T K S P F I Y S P I I A H N R G p.680
. . | 12 . . . . g.172539
GAAGAGCGGAACAAGAAAATAG | ATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAG c.2100
E E R N K K I D | F Q W V Q G D V C E V Q p.700
. . . . | 13 . g.175857
CTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATG | GGGCTGCTCACC c.2160
L M V Y N P M P F E L R V E N M | G L L T p.720
. . . . . . g.175917
AGCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTG c.2220
S G V E F E S L P A A L S L P A E S G L p.740
. . . . . | 14 . g.179563
TACCCAGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACG | GTTAC c.2280
Y P V T L V G V P Q T T G T I T V N G | Y p.760
. . . . . . g.179623
CATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAA c.2340
H T T V F G V F S D C L L D N L P G I K p.780
. . . . . . g.179683
ACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACCTCT c.2400
T S G S T V E V I P A L P R L Q I S T S p.800
| 15 . . . . . g.187810
CTGCCCAG | ATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTA c.2460
L P R | S A H S L Q P S S G D E I S T N V p.820
. . . . . . g.187870
TCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGA c.2520
S V Q L Y N G E S Q Q L I I K L E N I G p.840
. . . . . | 16 . g.210658
ATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAG | AAAAATTG c.2580
M E P L E K L E V T S K V L T T K E | K L p.860
. . . . . . g.210718
TATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAGCCT c.2640
Y G D F L S W K L E E T L A Q F P L Q P p.880
. . . . . . g.210778
GGGAAGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAG c.2700
G K V A T F T I N I K V K L D F S C Q E p.900
. . | 17 . . . . g.242031
AATCTCCTGCAGGATCTCAGTGATG | ATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGT c.2760
N L L Q D L S D D | G I S V S G F P L S S p.920
. . . . . . g.242091
CCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGC c.2820
P F R Q V V R P R V E G K P V N P P E S p.940
. . . | 18 . . . g.439532
AACAAAGCAGGCGACTACAGCCACGTGAAG | ACCCTGGAAGCTGTCCTGAATTTCAAATAC c.2880
N K A G D Y S H V K | T L E A V L N F K Y p.960
. . . . . . g.439592
TCTGGAGGCCCGGGCCACACTGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTA c.2940
S G G P G H T E G Y Y R N L S L G L H V p.980
. . . . . | 19 . g.474641
GAAGTCGAGCCGTCTGTATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAG | TACCCGG c.3000
E V E P S V F F T R V S T L P A T S | T R p.1000
. . . . . . g.474701
CAGTGTCACCTGCTCCTGGATGTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGCACC c.3060
Q C H L L L D V F N S T E H E L T V S T p.1020
. . . . | 20 . . g.551150
AGGAGCAGCGAGGCACTCATCCTGCACGCCGGCGAGTGCCAGCG | AATGGCTATTCAAGTG c.3120
R S S E A L I L H A G E C Q R | M A I Q V p.1040
. . . . . . g.551210
GACAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCTGGGGAGAAGGGGCAATTTGCAAAC c.3180
D K F N F E S F P E S P G E K G Q F A N p.1060
. . . . . . g.551270
CCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCCTGGAGATCCACAGCAAGCTG c.3240
P K Q L E E E R R E A R G L E I H S K L p.1080
. | 21 . . . . g.575507
GGCATCTGCTGGAGAATC | CCCTCCCTGAAGCGCAGTGGCGAGGCGAGTGTGGAAGGACTC c.3300
G I C W R I | P S L K R S G E A S V E G L p.1100
. . . . | 22 . g.729244
CTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGGG | ATGTGCTGGTG c.3360
L N Q L V L E H L Q L A P L Q W D | V L V p.1120
. . . . . . g.729304
GACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGTGGGCGACCCCGTGCGC c.3420
D G Q P C D R E A V A A C Q V G D P V R p.1140
. . . . . . g.729364
CTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTCGCCCTCACTGTG c.3480
L E V R L T N R S P R S V G P F A L T V p.1160
. . . . . . g.729424
GTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACACCGTCTCC c.3540
V P F Q D H Q N G V H N Y D L H D T V S p.1180
. . . | 23 . . . g.730234
TTCGTGGGCTCCAGCACCTTCTACCTCGACGCG | GTGCAGCCGTCCGGCCAGTCGGCCTGC c.3600
F V G S S T F Y L D A | V Q P S G Q S A C p.1200
. . . . . . g.730294
CTCGGGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAG c.3660
L G A L L F L Y T G D F F L H I R F H E p.1220
. . . . . . g.730354
GACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGT c.3720
D S T S K E L P P S W F C L P S V H V C p.1240
. . g.730375
GCCCTGGAGGCGCAGGCCTGA c.3741
A L E A Q A X p.1246
. . . . . . g.730435
gcccgcctacttccgtccctctttctgcagggccagaggtgaccctgcctggcctcccac c.*60
. . . . . . g.730495
accccctgcaatgagcaaggccttcactgcagccccatctcctcctcctcccccagaccc c.*120
. . . . . . g.730555
ctcccagccctctcctcctgttcctcctgtagcatctttgctgggctacgcagaagcccc c.*180
. . . . . . g.730615
ggacatggcagccccaccccatgccacgccccttcctacactgttccctggaccatacac c.*240
. . . . . . g.730675
aggctgaagcagaggaaatcccaaagcgggtgcccatccagcccaggtcccaggatccct c.*300
. . . . . . g.730735
gcacccatttctgtgacctggggccccagccgtgctgtgctgctcatcccagcagaggga c.*360
. . . . . . g.730795
cctccctcgtccagcgacttccctttggccatagaaagaaatggtgagcatgagactggg c.*420
. . . . . . g.730855
cacagcctgagggcgtgggcagcttcccaccctccctgggccttggaatcccccaaggct c.*480
. . . . . . g.730915
ggttttcttcctggagacccccatgggcaacttggcaggagagatggtgccgtaggaggt c.*540
. . . . . . g.730975
cgtggatggttgatgccaagagaggccctccacccgtggtgggcaaatgtccaggcctgg c.*600
. . . . . . g.731035
gctggcagcccagggctgtttctgggtgctccctggccccagggtggcgtctggttacca c.*660
. . . . . g.731093
tggctgtgtgtgtccatgtctgcaagcagttcttcaataaatggcctgcctccccctc c.*718
(downstream sequence)
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