(used for variant description)
(last modified September 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000286.2 in the PEX12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008447.1, covering PEX12 transcript NM_000286.2.
(upstream sequence)
. g.5016
tagagcgcctctcttc c.-601
. . . . . . g.5076
cgccaggcatcccagaggtcctggtggtttcatttccgggtgcggcttctgtcataaagc c.-541
. . . . . . g.5136
ggagacctcccttcaaacgtggcgtcgtgggttgtttgcgcctcgcctggggtcagcgag c.-481
. . . . . . g.5196
caaggacgggcgcgggcggggatactcaaagccaacagctggagtcagcccttgtgtccc c.-421
. . . . . . g.5256
gggctcacagtggcacgactgaatcctcagagtcggctggcttttgagctctcacgattg c.-361
. . . . . . g.5316
gggaggagggggcgtttctggttcgcagctccagaggattgcgttccttcccccatacct c.-301
. . . . . . g.5376
gtcccccacagtcacgctctgccctgacgtgcagcatttgacaagttaccccctcgccac c.-241
. . . . . . g.5436
atactacttccacccacgtccgagttaactttgttcttaaccttcttgagactaccctcg c.-181
. . . . . . g.5496
gcctccaggtctttttttcccagttcatttttgcccataagattgagtttcgagtttcag c.-121
. . . . . . g.5556
atatcatgcagaaagtttacctttaagactgagcacccatctgatactcttcctcccgaa c.-61
. . . . . . g.5616
aaagttcatgctcacgagagagtttgtgggaaaagtgaaagccagtacacgcaggaaact c.-1
. . . . . . g.5676
ATGGCTGAGCACGGGGCTCACTTCACAGCTGCTTCTGTGGCCGATGACCAGCCATCCATC c.60
M A E H G A H F T A A S V A D D Q P S I p.20
. . . . . . g.5736
TTTGAGGTGGTAGCACAGGACAGTTTAATGACAGCAGTGAGACCCGCTCTTCAGCATGTG c.120
F E V V A Q D S L M T A V R P A L Q H V p.40
| 02 . . . . . . g.6100
GTCAAG | GTTCTTGCAGAATCAAATCCCACCCACTATGGCTTCTTGTGGAGGTGGTTTGAT c.180
V K | V L A E S N P T H Y G F L W R W F D p.60
. . . . . . g.6160
GAAATCTTTACTCTGCTAGATCTTCTGCTCCAGCAACATTATCTGTCTAGAACCAGTGCC c.240
E I F T L L D L L L Q Q H Y L S R T S A p.80
. . . . . . g.6220
TCATTTTCTGAAAACTTTTACGGCTTAAAGAGAATTGTAATGGGGGACACTCACAAGTCT c.300
S F S E N F Y G L K R I V M G D T H K S p.100
. . . . . . g.6280
CAGAGATTGGCTAGTGCTGGTCTCCCAAAGCAGCAGCTTTGGAAATCTATTATGTTCCTG c.360
Q R L A S A G L P K Q Q L W K S I M F L p.120
. . . . . . g.6340
GTTCTTCTTCCCTATCTGAAAGTGAAGCTGGAGAAGCTGGTTTCTAGCCTGAGAGAAGAG c.420
V L L P Y L K V K L E K L V S S L R E E p.140
. . . . . . g.6400
GATGAATATTCTATTCATCCCCCTTCTTCCCGCTGGAAACGATTTTACAGAGCTTTCCTG c.480
D E Y S I H P P S S R W K R F Y R A F L p.160
. . . . . . g.6460
GCAGCCTACCCATTTGTGAACATGGCCTGGGAAGGATGGTTTCTTGTACAACAACTTCGA c.540
A A Y P F V N M A W E G W F L V Q Q L R p.180
. . . . . . g.6520
TACATCCTAGGAAAAGCTCAGCATCACTCACCACTGCTGAGGCTGGCTGGAGTTCAGCTA c.600
Y I L G K A Q H H S P L L R L A G V Q L p.200
. . . . . . g.6580
GGTCGACTGACAGTTCAGGATATACAAGCTCTGGAGCACAAACCAGCTAAGGCCAGCATG c.660
G R L T V Q D I Q A L E H K P A K A S M p.220
. . | 03 . . . . g.7496
ATGCAGCAACCAGCCAGGAG | TGTTAGTGAGAAGATAAACTCAGCTCTGAAGAAAGCTGTT c.720
M Q Q P A R S | V S E K I N S A L K K A V p.240
. . . . . . g.7556
GGGGGTGTTGCCTTATCCCTGTCTACTGGCCTTTCTGTGGGTGTATTCTTCTTGCAGTTC c.780
G G V A L S L S T G L S V G V F F L Q F p.260
. . . . . . g.7616
CTTGACTGGTGGTACTCATCTGAAAATCAAGAAACCATCAAGTCATTGACTGCCCTGCCT c.840
L D W W Y S S E N Q E T I K S L T A L P p.280
. . . . . . g.7676
ACTCCACCACCACCTGTACACCTAGACTATAACTCTGATTCTCCCCTCTTACCCAAAATG c.900
T P P P P V H L D Y N S D S P L L P K M p.300
. . . . . . g.7736
AAGACTGTGTGCCCACTGTGTCGTAAAACCCGGGTGAATGATACTGTTCTTGCCACCTCT c.960
K T V C P L C R K T R V N D T V L A T S p.320
. . . . . . g.7796
GGCTATGTGTTTTGTTACCGCTGTGTGTTTCATTATGTGAGGAGTCACCAAGCTTGTCCC c.1020
G Y V F C Y R C V F H Y V R S H Q A C P p.340
. . . . . . g.7856
ATCACAGGTTATCCAACAGAAGTACAACATCTGATTAAACTCTACTCCCCTGAGAACTGA c.1080
I T G Y P T E V Q H L I K L Y S P E N X p.359
. . . . . . g.7916
aagggaatcatgtcttatcctcacaacaaaagtattgcgctgtaatgtcacagagctggt c.*60
. . . . . . g.7976
ttcagcatggtattgagttgacacttctcagcctcaattcataactatatgaactttaaa c.*120
. . . . . . g.8036
tgattatatggatttctttaaaaggatatgcccatttgatcctaaccttttagcctgctc c.*180
. . . . . . g.8096
tctagaaccctacttacagttgaccaagctgcttaaagtagaaggatcaggactggcagg c.*240
. . . . . . g.8156
ggatatgagggccagtgtagagattaaacagaataatgagtacacaagtttttgcctatc c.*300
. . . . . . g.8216
cctttccttaaaatataagaaataaaggagctcttacgaaaaacccaggttagaccgcat c.*360
. . . . . . g.8276
aaaaaataaagtgaacagtgaggtggtagcaagacttctttttagaaaagaaagcattta c.*420
. . . . . . g.8336
cctgcctgtctgtaaggtggaaatttcatcagtttgcaaacgataagaaatgcagacttg c.*480
. . . . . . g.8396
ctcttgatagaaatgcttagaaacactctgggggggaaaaaagctccttccatatactgt c.*540
. . . . . . g.8456
gagacatttgttaagtgacatctattgtttatcagcttttaaggataaaaaaggtatttt c.*600
. . . . . . g.8516
aaaagttggatatttaggatatttgaggatattcctttatgagctctccatatccttctt c.*660
. . . . . . g.8576
gagaaactggttaaaaaaggaataggggttgagtgttacagagagtagtctgaagattcc c.*720
. . . . . . g.8636
tgtgtaaaagcaaagctaacaagcaatgaagacatgaagcaaaatactaatctaattgtg c.*780
. . . . . . g.8696
taaagaaaggatattttaataagttctttctgcttgctgctaagagtttgctaaagtgtc c.*840
. . . . . . g.8756
atgaattattctggttattactaaagtttctatgaaacacttaagtagattttaagaata c.*900
. . . . . . g.8816
aatgtttctggaaaagaactatgttatgattttgtagaaatgtaaagattacttgaggtg c.*960
. . g.8843
tttaaaataaatttttcattcagacta c.*987
(downstream sequence)
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