(used for variant description)
(last modified September 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_020408.4 in the LYRM4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051651.1, covering LYRM4 transcript NM_020408.4.
(upstream sequence)
. . g.5026
gcgcccgcccccgaagcggcgcggga c.-181
. . . . . . g.5086
cgcctggcgccgtccgcgatccgcagggctgcccgcttaggcttaggcccggcccgctgg c.-121
. . . . . . g.5146
caaagccgagccgcagcattttatttcgttcgtggtttccgcacaggctggagtttcgtg c.-61
. . . . . . g.5206
ggttgggtcgtacttgggacctcggcgaagaggacccgtttatttttttttctttccaaa c.-1
. . . . . . g.5266
ATGGCAGCCTCCAGTCGCGCACAAGTGTTATCTCTGTACCGGGCGATGCTGAGAGAGAGC c.60
M A A S S R A Q V L S L Y R A M L R E S p.20
. . | 02 . . . . g.49235
AAGCGTTTCAGCGCCTACAATTACAG | AACATATGCTGTCAGGAGGATAAGAGATGCCTTC c.120
K R F S A Y N Y R | T Y A V R R I R D A F p.40
. . . . . . g.49295
AGAGAAAATAAAAATGTAAAGGATCCTGTAGAAATTCAAACCCTAGTGAATAAAGCCAAG c.180
R E N K N V K D P V E I Q T L V N K A K p.60
. . | 03. . . . g.156480
AGAGACCTTGGAGTAATTCGTCGACAG | GTCCACATTGGCCAACTGTATTCAACTGACAAG c.240
R D L G V I R R Q | V H I G Q L Y S T D K p.80
. . . g.156516
CTGATCATTGAGAATCGAGACATGCCCAGGACCTAG c.276
L I I E N R D M P R T X p.91
. . . . . . g.156576
caagccggggaccagccaccagtggcggccagggaccaccttcagcatccactctctgtt c.*60
. . . . . . g.156636
tgagatgggggctcccaaaaccagcttacaatagccttttgcgctgcctgtcctgtggga c.*120
. . . . . . g.156696
gctgataaaccaagtcacatttgcattctgttgcaggcttagtgaaaaaggactgctgtc c.*180
. . . . . . g.156756
tttccttggttcaagtgttagaatggagagctggagttcgttcagaatagtgctgtgtgt c.*240
. . . . . . g.156816
taccacgtctcccctgcaccccattcctaccttgtagctcatgaccattgtgtatagcat c.*300
. . . . . . g.156876
ttctacactttgtttcttggtccttggcaataaaaagaatgatctccctgagcctttgac c.*360
. . . . . . g.156936
cccagataaacccctcccaattaatgcattttcatttcctactgatacaaggcctggaga c.*420
. . . . . . g.156996
gggctgttgggggccctcagggagggttcaactctgagacgagaactgccttggtgaagg c.*480
. . . . . . g.157056
caagttcaagcaccacttgagactgggggcagcatggagtagggcagggctacggggata c.*540
. . . . . . g.157116
cacggtgcaccctgcaacttatacctgagcccagtacaacaaaggtgacgggtgtgtagg c.*600
. . . . . . g.157176
tacacacccagagatggagcactgcagatcagcaacctcagccccacctgggaatttgct c.*660
. . . . . . g.157236
ggaaatgcaggctcaagcccctccccacacctggtgaatgagagagccccagcctgaccc c.*720
. . . . . . g.157296
aagcccagggcgactcccataccctgaagcctggggcatgctgggcagcaccggtgccca c.*780
. . . . . . g.157356
aatctggctggtggacagaagcacctggagagttggagagctttttaaaaagacatctct c.*840
. . . . . . g.157416
cagcacttccctctctgcagattctgactcagtaagtgaggggtgaggcacagtcatttt c.*900
. . . . . . g.157476
tctctattctgaagctctcccactgttttcaatgtttaaccaactggggacccctgctct c.*960
. . . . g.157520
ttaagtatattacaggtaataaagatattgtttgtatgctttta c.*1004
(downstream sequence)
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