(used for variant description)
(last modified February 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_058181.1 in the YBEY gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering YBEY transcript NM_058181.1.
(upstream sequence)
g.5009
tggcggggc c.-421
. . . . . . g.5069
ttccggtcgggagggtccgcccgctctcgcgtcctttgctgggtccagacaccggtacgt c.-361
. . . . . . g.5129
ccgggcgggtttttagtctcccaagcgagagcgtcgcattcacccgcgtgggtctgcggg c.-301
. . . . . . g.5189
cgccccagaccccagaggacccggcccccaacgcttacctgtcccctctcctgtccctcc c.-241
. . . . . . g.5249
cccattccagccccttctctccccagccgttgcccctccccgcaccccgccgcgtccgcg c.-181
. . . . . . g.5309
cgcctctctccgcgcgcacccccaacccgcccccttttctctgggaaccgctccttccgc c.-121
. . . . . . g.5369
tccgcccgcctggagtccttctggccggattccgcggcatccttccatagaccctcgttg c.-61
. . | 02 . . . . g.5561
ttgcttcctccttgtg | gttccgttgcaaacatttttaaagggctggttattcttcctgaa c.-1
. . . . . . g.5621
ATGAGTTTGGTGATTAGAAATCTGCAGCGAGTCATCCCCATCAGGAGAGCGCCACTTCGC c.60
M S L V I R N L Q R V I P I R R A P L R p.20
. . . . . . g.5681
AGTAAGATCGAGATTGTAAGGAGGATTTTAGGAGTGCAGAAATTTGACCTGGGGATCATC c.120
S K I E I V R R I L G V Q K F D L G I I p.40
. . . . . . g.5741
TGTGTTGACAACAAGAATATTCAGCACATTAATAGAATCTACAGAGATAGAAATGTCCCA c.180
C V D N K N I Q H I N R I Y R D R N V P p.60
. . . | 03 . . . g.10011
ACCGATGTGCTTTCTTTTCCATTTCATGAG | CATCTGAAAGCAGGTGAATTTCCCCAGCCT c.240
T D V L S F P F H E | H L K A G E F P Q P p.80
. . . . . . g.10071
GATTTTCCAGATGACTACAATTTGGGAGACATTTTCCTAGGAGTGGAGTATATCTTCCAT c.300
D F P D D Y N L G D I F L G V E Y I F H p.100
. . . | 04 . . g.14830
CAGTGTAAAGAAAATGAAGATTACAATGACGTCCTGACT | GTGACGGCCACCCACGGACTC c.360
Q C K E N E D Y N D V L T | V T A T H G L p.120
. . . . | 05 . g.16198
TGTCACTTGCTGGGATTCACACACGGCACGGAGGCAGAGTGGCAGCAG | ATGTTCCAGAAG c.420
C H L L G F T H G T E A E W Q Q | M F Q K p.140
. . . . . . g.16258
GAGAAGGCGGTGCTGGACGAGCTGGGCCGACGCACGGGGACCCGGCTGCAGCCCCTGACC c.480
E K A V L D E L G R R T G T R L Q P L T p.160
. . g.16282
CGGGGCCTCTTCGGAGGGAGCTGA c.504
R G L F G G S X p.167
. . . . . . g.16342
gggccgcgttccttctgaaagcgggacgcgggaggggtggaggctgcggggagccggggt c.*60
. . . . . g.16399
cgcacacgaataaataacgaatgaacgtacgaggggaacctcctcttatttccttca c.*117
(downstream sequence)
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