(used for variant description)
(last modified October 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_016468.6 in the COX16 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering COX16 transcript NM_016468.6.
(upstream sequence)
. . g.5024
attcactaaggaccgagcaccaaa c.-121
. . . . . . g.5084
taaccaaggaaaaggaagtgagttaaggacgtactcgtcttggtgagagcgtgagctgct c.-61
. . . . . . g.5144
gagatttgggagtctgcgctaggcccgcttggagttctgagccgatggaagagttcactc c.-1
. . . . . . g.5204
ATGTTTGCACCCGCGGTGATGCGTGCTTTTCGCAAGAACAAGACTCTCGGCTATGGAGTC c.60
M F A P A V M R A F R K N K T L G Y G V p.20
| 02 . . . . . g.22053
CCCATGTTG | TTGCTGATTGTTGGAGGTTCTTTTGGTCTTCGTGAGTTTTCTCAAATCCGA c.120
P M L | L L I V G G S F G L R E F S Q I R p.40
. . | 03 . . . . g.35534
TATGATGCTGTGAAGAGTAAA | ATGGATCCTGAGCTTGAAAAAAAACTGAAAGAGAATAAA c.180
Y D A V K S K | M D P E L E K K L K E N K p.60
. . | 04 . . . . g.38318
ATATCTTTAGAGTCGGAATATGAG | AAAATCAAAGACTCCAAGTTTGATGACTGGAAGAAT c.240
I S L E S E Y E | K I K D S K F D D W K N p.80
. . . . . . g.38378
ATTCGAGGACCCAGGCCTTGGGAAGATCCTGACCTCCTCCAAGGAAGAAATCCAGAAAGC c.300
I R G P R P W E D P D L L Q G R N P E S p.100
. . g.38399
CTTAAGACTAAGACAACTTGA c.321
L K T K T T X p.106
. . . . . . g.38459
ctctgctgattcttttttccttttttttttttttaaataaaaatattattaactggactt c.*60
. . . . . . g.38519
cctaatatatacttctatcaagtggaaaggaaattccaggcccatggaaacttggatatg c.*120
. . . . . . g.38579
ggtaatttgatgacaaataatcttcactaaaggtcatgtacaggtttttatacttcccag c.*180
. . . . . . g.38639
ctattccatctgtggatgaaagtaacaatgttggccacgtatattttacacctcgaaata c.*240
. . . . . . g.38699
aaaaatgtgaatactgctccaaaaacagagtcacgtattccactctccaactacccacat c.*300
. . . . . . g.38759
attccttttgcaatagccattagggcatcattttgatatttcattctgatttctgattct c.*360
. . . . . . g.38819
ctgatttctgattcctaatgaggacagtaggtctggatccaaattctcacagtaaaatca c.*420
. . . . . . g.38879
agcagtaattttctctcatatctattagggaaagaaaaatgatcacagtctgctaagagt c.*480
. . . . . . g.38939
cttgattttctttgtaatgcctcacatagtatgataatcagtctccaaagcatcacatga c.*540
. . . . . . g.38999
taattacaatgataccattaacatgtcaaggaaattatattatttatggttgtcaaaaat c.*600
. . . . . . g.39059
tatgaagtagtgtatgattataagcagatatggcaaatttgttcagtaaatccatagatg c.*660
. . . . . . g.39119
actacattttgagaaatactaagataatactaaaaattatgccttagcataatttgcatg c.*720
. . . . . . g.39179
caaaattgccctctagtgtttttgttttgttttgagacatagtctcgctctgttcgccca c.*780
. . . . . . g.39239
ggctggagtgcaggggcacgatctctgctcactgcaagctctgcttcccgggttcacacc c.*840
. . . . . . g.39299
attctcctgcctcagcatcctgagtagctgggactacaggcacatgctgtcacacccggc c.*900
. . . . . . g.39359
taattttttgtatttagtagagatggggtttcaccacgttagccaggatggtctccatct c.*960
. . . . . . g.39419
cctgaccttgtgatccgcccacctcggcctcacaaattgctgggattacaggtgtgagcc c.*1020
. . . . . . g.39479
accacgcctggccgaaagttagttgttttgaactcattttctcctttttacccctgcctt c.*1080
. . . . . . g.39539
tatcagcttctaccttctggtttcatgctgagttctagttgcctaaagtctccattgaaa c.*1140
. . . . . . g.39599
cactcctgttataattgccataaaatcataaatccactccccctttctcctcctagtcaa c.*1200
. . . . . g.39651
aatttgtattcttttcagcaggttggttttaataaaaagtaaattaagttga c.*1252
(downstream sequence)
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