(used for variant description)
(last modified September 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_057174.2 in the PEX16 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008460.1, covering PEX16 transcript NM_057174.2.
(upstream sequence)
. g.5012
cggtaaacggaa c.-301
. . . . . . g.5072
gagctgggtgctgacggcgctgggcgggtcaggggcggagagcgtgctaaccaatgactt c.-241
. . . . . . g.5132
gagggagtagggggccgggtttgggccctcagttgctaagggctacccgagtgggaagcg c.-181
. . . . . . g.5192
gttcaagagatggggtgaagggtggttcaccggttcttcaagtcctcagccttctggccc c.-121
. . . . . . g.5252
gcggaagttaagcaaccaagaggcgggcctaagaccggaagcaggaaggagggcgcagga c.-61
. . . . . . g.5312
agcagggcgccgcagcctgtcgtacggtccttctgtgggtctgtcggtgccgagggcagg c.-1
. . . . . . g.5372
ATGGAGAAGCTGCGGCTCCTGGGCCTCCGCTACCAGGAGTACGTGACTCGTCACCCGGCC c.60
M E K L R L L G L R Y Q E Y V T R H P A p.20
. . . . . | 02 . g.5638
GCCACGGCCCAGCTGGAGACAGCAGTGCGGGGCTTCAGTTACCTGCTGGCAG | GTCGATTC c.120
A T A Q L E T A V R G F S Y L L A G | R F p.40
. . | 03 . . . g.6852
GCCGATTCGCACGAGCTGTCAGAGCTGG | TGTACTCTGCCTCTAACCTGCTTGTGCTGCTC c.180
A D S H E L S E L V | Y S A S N L L V L L p.60
. . . . | 04 . . g.7302
AATGACGGGATCCTACGGAAGGAGCTTCGGAAAAAGTTGCCTGTG | TCGCTGTCCCAGCAG c.240
N D G I L R K E L R K K L P V | S L S Q Q p.80
. . . . . . g.7362
AAGCTGCTGACATGGCTGAGCGTGCTGGAGTGCGTGGAGGTGTTCATGGAGATGGGAGCT c.300
K L L T W L S V L E C V E V F M E M G A p.100
. . . . . | 05 g.7556
GCCAAGGTGTGGGGTGAAGTGGGCCGCTGGCTTGTCATCGCCCTCGTCCAGCTGGCCAA | G c.360
A K V W G E V G R W L V I A L V Q L A K | p.120
. . . . . . g.7616
GCTGTACTGCGGATGCTCCTGCTGCTCTGGTTCAAGGCTGGCCTCCAGACTTCACCCCCT c.420
A V L R M L L L L W F K A G L Q T S P P p.140
. . . . | 06 . . g.8459
ATCGTTCCACTGGACAGAGAGACCCAGGCACAGCCCCCGG | ATGGTGACCACAGCCCTGGC c.480
I V P L D R E T Q A Q P P D | G D H S P G p.160
. . . . . . g.8519
AACCATGAGCAGTCCTACGTGGGGAAGCGGTCAAACCGGGTGGTGCGAACCCTCCAGAAC c.540
N H E Q S Y V G K R S N R V V R T L Q N p.180
| 07 . . . . . . g.8714
A | CGCCGTCCCTGCACTCCAGGCACTGGGGAGCTCCCCAGCAGCGGGAGGGACGGCAGCAG c.600
T | P S L H S R H W G A P Q Q R E G R Q Q p.200
. . . . . . g.8774
CAGCATCACGAGGAGCTGAGTGCGACCCCCACCCCCCTGGGGCTGCAGGAGACCATCGCA c.660
Q H H E E L S A T P T P L G L Q E T I A p.220
. . . | 08 . . . g.8946
GAGTTTTTGTACATTGCCCGGCCGCTGCTGCACT | TGCTCAGCCTGGGCCTGTGGGGTCAG c.720
E F L Y I A R P L L H L | L S L G L W G Q p.240
. . . . | 09. . g.9198
AGGTCGTGGAAACCCTGGCTCTTGGCTGGTGTTGTGGACGTGACCAG | CCTGAGCCTCCTG c.780
R S W K P W L L A G V V D V T S | L S L L p.260
. . . . . . g.9258
AGTGACAGAAAGGGCCTGACCCGGAGGGAGCGGCGGGAGCTGCGGCGCCGGACCATCCTG c.840
S D R K G L T R R E R R E L R R R T I L p.280
. . . . | 10. . g.12174
CTGCTCTACTACCTGCTGCGCTCTCCTTTCTATGACCGCTTCTCCGA | GGCCAGGATCCTC c.900
L L Y Y L L R S P F Y D R F S E | A R I L p.300
. . . . . | 11 . g.12954
TTCCTGCTCCAGTTGCTGGCCGACCACGTCCCTGGCGTTGGCCTGGTCACAA | CGTCCCAG c.960
F L L Q L L A D H V P G V G L V T T | S Q p.320
. . . . . . g.13014
CGTGCGGCCTCTCCGTGCCTACCGGCCAGGCCCCACACACAGCCCTGGTCGCCACCAGCG c.1020
R A A S P C L P A R P H T Q P W S P P A p.340
. . g.13035
TTCCTCCCAGGACACCCTTGA c.1041
F L P G H P X p.346
. . . . . . g.13095
ctgcgctctcctgtgacgatgccactgcagcccgcaccttgtcactgctgggccaagaag c.*60
. . . . . . g.13155
ccttcactaggagtgggatccaggctcctctcccacagaaagcggtgacttcacctcatg c.*120
. . . . . . g.13215
gagcccgggaagctgctcgcctcggcagccataggagcgaacactgctgctctctcgctg c.*180
. . . . . . g.13275
gcccctggtgaggacaggaagcctgaacccgggtgatggctgaacgctgcccagcgtgtc c.*240
. . . . . . g.13335
ttctggctggggccctccgtctgccccttctccgcagggccctgtggctctggcagcccc c.*300
. . . . . . g.13395
aggccatggcgttgccagcctccctgtgacagagcctggtgaacagtgagcctggctccc c.*360
. . . . . . g.13455
acgcaagtggcactttaagccctgcatcctcggttgagagtaaaaggcttttctccctta c.*420
(downstream sequence)
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