(used for variant description)
(last modified November 6, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_182548.3 in the LHFPL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering LHFPL5 transcript NM_182548.3.
(upstream sequence)
. g.5017
gggcgctggccgcggtg c.-361
. . . . . . g.5077
ctgaaacggcgccctccgcggacggaggagggggcggggctctcgggagccgtgagccgg c.-301
. . . . . . g.5137
gaagagggagacgggcagggcggcgccagcaggccctggtgggcttgggaggaggcagga c.-241
. . . . . . g.5197
gactggagacagcctcggctagagcggacacaggcacctggcaagctttccttgaccaaa c.-181
. . . . . . g.5257
tcaaggttgtccttgtcctattaagcctcttccccttgccttgaagggacctcacctggt c.-121
. . . . . . g.5317
gccctgacctcagcctcctccccaaaccccgctggggagtgacctgcttctaggcctcca c.-61
. . . . . . g.5377
tccacaaagctacggacttgcagcccacgggaccccagcccagggcctgctgccctcacc c.-1
. . . . . . g.5437
ATGGTGAAATTGCTGCCGGCCCAGGAGGCAGCCAAGATCTACCATACCAACTATGTGCGG c.60
M V K L L P A Q E A A K I Y H T N Y V R p.20
. . . . . . g.5497
AACTCGCGAGCCGTGGGCGTGATGTGGGGTACCCTCACCATCTGCTTCTCCGTACTGGTC c.120
N S R A V G V M W G T L T I C F S V L V p.40
. . . . . . g.5557
ATGGCCCTCTTCATCCAGCCCTACTGGATCGGCGACAGCGTCAACACACCGCAGGCAGGC c.180
M A L F I Q P Y W I G D S V N T P Q A G p.60
. . . . . . g.5617
TACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGTGCTGTCCTCCGAGCTCATCTGCAAG c.240
Y F G L F S Y C V G N V L S S E L I C K p.80
. . . . . . g.5677
GGCGGCCCCCTAGACTTCTCCTCCATCCCCTCTAGAGCCTTCAAGACTGCCATGTTCTTT c.300
G G P L D F S S I P S R A F K T A M F F p.100
. . . . . . g.5737
GTGGCCTTGGGCATGTTCCTCATCATTGGCTCCATCATCTGCTTCAGCCTGTTCTTCATC c.360
V A L G M F L I I G S I I C F S L F F I p.120
. . . . . | 02 . g.14260
TGCAACACGGCCACAGTCTATAAGATCTGTGCATGGATGCAGCTGGCTGCGG | CCACAGGC c.420
C N T A T V Y K I C A W M Q L A A A | T G p.140
. . . . . . g.14320
CTAATGATTGGCTGCCTGGTCTACCCTGATGGTTGGGACTCAAGTGAGGTGCGGCGCATG c.480
L M I G C L V Y P D G W D S S E V R R M p.160
. . . . . . g.14380
TGTGGGGAGCAGACGGGCAAGTACACGCTGGGCCACTGCACCATCCGCTGGGCCTTCATG c.540
C G E Q T G K Y T L G H C T I R W A F M p.180
. . . . . . g.14440
CTGGCCATCCTCAGCATTGGCGACGCCCTCATCCTCTCCTTCCTGGCCTTCGTGTTGGGC c.600
L A I L S I G D A L I L S F L A F V L G p.200
. . . . | 03 . g.19154
TACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGATGGAACCG | AGGAGGTGTGA c.660
Y R Q D K L L P D D Y K A D G T E | E V X p.219
. | 04 . . . . . g.22732
agcagctgaagggtcg | gtcatctatttcccagacacaggaaaactagggaatcaaattct c.*60
. . . . . . g.22792
tcagagataagaacttgttcttccaagtttccttgttcctggctactataggcctgaagc c.*120
. . . . . . g.22852
ctgaagccttttattataacactaaaactggacagtctcctgagacaagacctcctactg c.*180
. . . . . . g.22912
tactctttctggggaagcagaactgcagtgacccacttcaaagatattcagaggctgagc c.*240
. . . . . . g.22972
ggtgcagggagtgctcagttgctggggatgggatccaagtccatttcttagttccacaca c.*300
. . . . . . g.23032
gcagcaaatcgcttcaccttcttgaagcctctcctctgtaaagcgagagggctaaatggg c.*360
. . . . . . g.23092
tccatctctaggggccttccctcccaggtctgtgtctgatagcatacacacacacatata c.*420
. . . . . . g.23152
tatacacacacacacacacacacacacacacacacacacatacatacacacacacatata c.*480
. . . . . . g.23212
tatacacacacacacacacacacacacacacactctctctctctctcaaacacacacaaa c.*540
. . . . . . g.23272
tgcccaaccagctctaagagggcactgaagaggtggctggacatgtgctgggtcattttt c.*600
. . . . . . g.23332
agggtgaggtgtagggggtcttttgcttctcccttctcatattttgttttcttattgctg c.*660
. . . . . . g.23392
ctcagaggggggtaaggaatggaggggccatcagaacttgaatcctttaacatccaccag c.*720
. . . . . . g.23452
gaagttttatgaagagtgggtgataggatctaaaatctctgcagacttttttcctcccgg c.*780
. . . . . . g.23512
gagccaaatatcacatttccttatggtgcccacactgactcaaccagaactggctaccag c.*840
. . . . . . g.23572
cttcagaaatgtgttacttatgttcaagtaatttgttataggaatagatgacattttttt c.*900
. . . . . . g.23632
ttttcaaaaactttggatttggcatatagtcatctatagggggattggttccaggatccc c.*960
. . . . . . g.23692
ctgcagatgccaaaatacatggatgcccaagtcctcagctaaaaatagcgtagtatttgc c.*1020
. . . . . . g.23752
atataacctatgcacatcctcctgtatactttaaatcatctctagattacttataatacc c.*1080
. . . g.23782
taatacaatgtaaatgctatgtaaatactc c.*1110
(downstream sequence)
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