(used for variant description)
(last modified March 19, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_016030.5 in the TRAPPC12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering TRAPPC12 transcript NM_016030.5.
(upstream sequence)
. . g.5026
tttccggcctgggggcagggcctcgg c.-181
. . . . . . g.5086
gttcctgcatcgggcctgagcagaactaggcgcgccgcggcccggcacgcgcaggcgtac c.-121
. . . . . . g.5146
agagctccccgggggtgccagttcctctccgattcccggcttctgtcaccttcctcacgg c.-61
. . . . . . | 02 g.12949
accttggtcacggccgcaggtgaccccttagcccagctccagtgggcgggtggcag | ggtc c.-1
. . . . . . g.13009
ATGGAGGACGCTGGCGGCGGCGAGGAGACCCCGGCCCCGGAGGCCCCGCACCCCCCTCAG c.60
M E D A G G G E E T P A P E A P H P P Q p.20
. . . . . . g.13069
CTCGCGCCTCCGGAGGAGCAGGGGTTGCTCTTCCAGGAGGAAACCATCGATCTTGGCGGA c.120
L A P P E E Q G L L F Q E E T I D L G G p.40
. . . . . . g.13129
GATGAGTTTGGATCCGAAGAGAACGAGACCGCATCGGAAGGCTCGAGTCCTCTCGCGGAC c.180
D E F G S E E N E T A S E G S S P L A D p.60
. . . . . . g.13189
AAGCTGAACGAACACATGATGGAGAGCGTCCTCATCTCTGACTCCCCCAACAGCGAGGGC c.240
K L N E H M M E S V L I S D S P N S E G p.80
. . . . . . g.13249
GACGCGGGCGACCTGGGCCGAGTGCGGGACGAAGCTGAGCCCGGAGGGGAAGGCGACCCA c.300
D A G D L G R V R D E A E P G G E G D P p.100
. . . . . . g.13309
GGCCCGGAGCCCGCGGGCACCCCGAGTCCCAGCGGCGAGGCCGACGGCGACTGTGCCCCC c.360
G P E P A G T P S P S G E A D G D C A P p.120
. . . . . . g.13369
GAGGACGCGGCACCCAGTAGCGGAGGGGCCCCGAGGCAGGACGCGGCCCGCGAGGTCCCA c.420
E D A A P S S G G A P R Q D A A R E V P p.140
. . . . . . g.13429
GGCAGCGAAGCCGCGCGCCCGGAGCAGGAGCCTCCCGTTGCGGAGCCGGTCCCGGTGTGC c.480
G S E A A R P E Q E P P V A E P V P V C p.160
. . . . . . g.13489
ACCATCTTCAGCCAGCGCGCGCCCCCAGCCTCCGGGGACGGCTTCGAGCCGCAGATGGTG c.540
T I F S Q R A P P A S G D G F E P Q M V p.180
. . . . . . g.13549
AAGTCGCCCAGCTTCGGTGGCGCCAGCGAGGCCTCGGCCAGGACACCGCCCCAGGTCGTG c.600
K S P S F G G A S E A S A R T P P Q V V p.200
. . . . . . g.13609
CAGCCCAGCCCCAGCCTCAGCACGTTCTTCGGAGACACGGCCGCCAGCCACTCCTTGGCC c.660
Q P S P S L S T F F G D T A A S H S L A p.220
. . . . . . g.13669
TCGGACTTCTTCGACTCCTTTACTACCTCCGCCTTCATTTCCGTCAGCAATCCCGGCGCG c.720
S D F F D S F T T S A F I S V S N P G A p.240
. . . . . . g.13729
GGCTCCCCGGCCCCCGCCAGCCCGCCTCCCCTCGCTGTGCCCGGGACCGAGGGGCGCCCC c.780
G S P A P A S P P P L A V P G T E G R P p.260
. . . . . . g.13789
GAACCCGTGGCCATGCGAGGGCCCCAGGCAGCTGCGCCCCCGGCGTCGCCAGAGCCTTTC c.840
E P V A M R G P Q A A A P P A S P E P F p.280
. . . . . . g.13849
GCGCACATCCAGGCAGTGTTTGCAGGGAGTGACGACCCCTTTGCCACCGCCCTGAGCATG c.900
A H I Q A V F A G S D D P F A T A L S M p.300
. . . . . . g.13909
AGCGAGATGGACCGGAGGAACGACGCCTGGCTTCCCGGCGAGGCTACGCGTGGAGTCCTG c.960
S E M D R R N D A W L P G E A T R G V L p.320
. . . . . . g.13969
CGGGCCGTGGCCACCCAGCAGCGCGGCGCCGTGTTCGTGGACAAGGAGAACCTCACCATG c.1020
R A V A T Q Q R G A V F V D K E N L T M p.340
. . | 03. . . . g.27135
CCGGGCCTCAGGTTCGACAACATCCAG | GGAGATGCAGTTAAAGACTTGATGCTTCGCTTT c.1080
P G L R F D N I Q | G D A V K D L M L R F p.360
. . . . . . g.27195
CTGGGTGAAAAAGCTGCAGCAAAGAGACAAGTCCTAAATGCCGACTCAGTGGAACAATCT c.1140
L G E K A A A K R Q V L N A D S V E Q S p.380
. . | 04 . . . . g.47242
TTTGTTGGATTGAAACAGCTAATC | AGCTGCAGAAACTGGAGGGCAGCAGTGGACCTGTGC c.1200
F V G L K Q L I | S C R N W R A A V D L C p.400
. . . . . . g.47302
GGACGTCTCCTCACAGCCCACGGCCAGGGCTACGGCAAGAGCGGGCTGCTCACCAGCCAC c.1260
G R L L T A H G Q G Y G K S G L L T S H p.420
. | 05 . . . . g.49892
ACGACAGATTCACTGCAG | CTCTGGTTTGTCAGGCTGGCACTACTAGTGAAGTTGGGCCTT c.1320
T T D S L Q | L W F V R L A L L V K L G L p.440
. . . . . . g.49952
TTCCAGAATGCTGAGATGGAATTTGAACCCTTCGGAAATCTTGATCAGCCAGATCTTTAT c.1380
F Q N A E M E F E P F G N L D Q P D L Y p.460
. . . | 06. . . g.69127
TACGAGTACTACCCGCACGTGTACCCTGGGCGCAGGG | GCTCCATGGTCCCCTTCTCGATG c.1440
Y E Y Y P H V Y P G R R G | S M V P F S M p.480
. . . . . . g.69187
CGCATCTTGCACGCGGAGCTTCAGCAGTACCTGGGGAACCCACAGGAGTCGCTGGATAGA c.1500
R I L H A E L Q Q Y L G N P Q E S L D R p.500
. . . | 07 . . . g.82976
CTGCACAAGGTGAAGACTGTCTGCAGCAAG | ATCCTGGCCAATTTGGAGCAAGGCTTAGCA c.1560
L H K V K T V C S K | I L A N L E Q G L A p.520
. . . . | 08 . . g.85605
GAAGACGGCGGCATGAGCAGCGTGACTCAGGAGGGCAGACAAG | CCTCTATCCGGCTGTGG c.1620
E D G G M S S V T Q E G R Q A | S I R L W p.540
. . . . . | 09. g.90925
AGGTCACGTCTGGGCCGGGTGATGTACTCCATGGCAAACTGTCTGCTCCTGATGAAG | GAT c.1680
R S R L G R V M Y S M A N C L L L M K | D p.560
. . . . . . g.90985
TATGTGCTGGCCGTGGAGGCGTATCATTCGGTTATCAAGTATTACCCAGAGCAAGAGCCC c.1740
Y V L A V E A Y H S V I K Y Y P E Q E P p.580
. . . | 10 . . . g.103044
CAGCTGCTCAGCGGCATCGGCCGGATTTCCCTGCAG | ATTGGAGACATAAAAACAGCTGAA c.1800
Q L L S G I G R I S L Q | I G D I K T A E p.600
. . . . . . g.103104
AAGTATTTTCAAGACGTTGAGAAAGTAACACAGAAATTAGATGGACTACAGGGTAAAATC c.1860
K Y F Q D V E K V T Q K L D G L Q G K I p.620
. | 11. . . . . g.104214
ATGGTTTTGATGAACAG | CGCGTTCCTTCACCTCGGGCAGAATAACTTTGCAGAAGCCCAC c.1920
M V L M N S | A F L H L G Q N N F A E A H p.640
. . . . | 12 . . g.104559
AGGTTCTTCACAGAGATCTTAAGGATGGATCCAAGAAACGCAGTG | GCCAACAACAACGCT c.1980
R F F T E I L R M D P R N A V | A N N N A p.660
. . . . . . g.104619
GCCGTGTGTCTGCTCTACCTGGGCAAGCTCAAGGACTCCCTGCGGCAGCTGGAGGCCATG c.2040
A V C L L Y L G K L K D S L R Q L E A M p.680
. . . . . . g.104679
GTCCAGCAGGACCCCAGGCACTACCTGCACGAGAGCGTGCTCTTCAACCTGACCACCATG c.2100
V Q Q D P R H Y L H E S V L F N L T T M p.700
. . . . . . g.104739
TACGAGCTGGAGTCCTCACGGAGCATGCAGAAGAAACAGGCCCTGCTGGAGGCTGTCGCC c.2160
Y E L E S S R S M Q K K Q A L L E A V A p.720
. . . . g.104787
GGCAAGGAGGGGGACAGCTTCAACACACAGTGCCTCAAGCTGGCCTAG c.2208
G K E G D S F N T Q C L K L A X p.735
. . . . . . g.104847
ctgcctccaacacactacgtcagaaggacccgggtctttgaaactgtgtcttgaagctaa c.*60
. . . . . g.104897
tgtattaatgtgacatggaggaactcaataaaactcctgcttcactggtg c.*110
(downstream sequence)
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