(used for variant description)
(last modified August 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_016146.4 in the TRAPPC4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering TRAPPC4 transcript NM_016146.4.(upstream sequence) . . g.5025 tgacgcatactatagcgctgttttc c.-241 . . . . . . g.5085 ctgcactgataaacgaaaagcaatccaccaggtctcggcagctaactttccggcactact c.-181 . . . . . . g.5145 tatgcccgagcgtgtcgctcccagtgcgcaagtgcagcaggtggctgcacggggggcgcg c.-121 . . . . . . g.5205 ggaggaggaggaggaggaggaggaggctggggtggggccggcggcaagtgctgtgatgcg c.-61 . . . . . . g.5265 gttccggggaggggccgtcgggtagaggctgaataccagtttccgagcggcaaggcagcg c.-1 . . . . . . g.5325 ATGGCGATTTTTAGTGTGTATGTGGTGAACAAAGCTGGCGGCTTGATTTACCAGTTGGAC c.60 M A I F S V Y V V N K A G G L I Y Q L D p.20 . . . . . . g.5385 AGCTACGCGCCACGGGCTGAGGCTGAGAAAACTTTCAGTTATCCGCTGGATCTGCTGCTC c.120 S Y A P R A E A E K T F S Y P L D L L L p.40 . . . . . | 02 . g.5617 AAGCTACACGATGAGCGTGTGTTGGTTGCTTTCGGCCAGCGGGACGGCATCCGAG | TGGGT c.180 K L H D E R V L V A F G Q R D G I R V | G p.60 . . . . . . g.5677 CATGCAGTGCTGGCCATCAATGGCATGGACGTGAATGGCAGGTACACGGCCGACGGGAAA c.240 H A V L A I N G M D V N G R Y T A D G K p.80 . . . . . . g.5737 GAGGTGCTGGAGTATCTGGGTAACCCTGCTAATTACCCGGTGTCCATTCGATTTGGCCGG c.300 E V L E Y L G N P A N Y P V S I R F G R p.100 . . . . . | 03 . g.6629 CCCCGCCTCACTTCTAATGAGAAGCTTATGCTGGCCTCCATGTTCCACTC | GCTCTTTGCC c.360 P R L T S N E K L M L A S M F H S | L F A p.120 . . . . . . g.6689 ATCGGCTCCCAGCTGTCTCCTGAACAGGGAAGCTCAGGCATTGAGATGCTGGAGACAGAC c.420 I G S Q L S P E Q G S S G I E M L E T D p.140 . . . | 04 . . . g.8255 ACATTCAAATTGCACTGCTACCAGACACTGACAG | GGATCAAGTTTGTGGTTCTAGCAGAT c.480 T F K L H C Y Q T L T G | I K F V V L A D p.160 . . . . . . g.8315 CCTAGGCAAGCTGGAATAGATTCTCTTCTCCGAAAGATTTATGAGATTTACTCAGACTTT c.540 P R Q A G I D S L L R K I Y E I Y S D F p.180 . . . . | 05 . . g.9809 GCCCTCAAGAATCCATTCTATTCCTTAGAAATGCCTATCAG | GTGTGAGCTCTTTGACCAG c.600 A L K N P F Y S L E M P I R | C E L F D Q p.200 . . . . . . g.9869 AACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAG c.660 N L K L A L E V A E K A G T F G P G S X p.219 . . . . . . g.9929 gctgaacctgttatggacccccaaattctgagagttcctgcaacaagaatactgctgttg c.*60 . . . . . . g.9989 acactccagtggaaatcccagcagccttgttagtgcacttgaaagtgggagaatgctgac c.*120 . . . . . . g.10049 cctgatgacttgtactgattcctgagccttaacactgtgctctttccttctgtatatacc c.*180 . . . . . . g.10109 atggtcttactttccaactctgtacagatttatttatggaggagctaggtccataaatgt c.*240 . . . g.10144 tgtaataaatattcctttgatcttggtgtttgcaa c.*275 (downstream sequence)Legend:
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