(used for variant description)
(last modified September 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000466.2 in the PEX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008341.2, covering PEX1 transcript NM_000466.2.
(upstream sequence)
. . . g.5036
cgatcgatctcctccggctccgacgtcctcggcctg c.-61
. . . . . . g.5096
ccgggtcccgggtcctttgcggcgctagggtgggcgaacccagagcgacgctccgggacg c.-1
. . . . . . g.5156
ATGTGGGGCAGCGATCGCCTGGCGGGTGCTGGGGGAGGCGGGGCGGCAGTGACTGTGGCC c.60
M W G S D R L A G A G G G G A A V T V A p.20
. . . . . . g.5216
TTCACCAACGCTCGCGACTGCTTCCTCCACCTGCCGCGGCGTCTCGTGGCCCAGCTGCAT c.120
F T N A R D C F L H L P R R L V A Q L H p.40
| 02 . . . . . g.11337
CTGCTGCAG | AATCAAGCTATAGAAGTGGTCTGGAGTCACCAGCCTGCATTCTTGAGCTGG c.180
L L Q | N Q A I E V V W S H Q P A F L S W p.60
. . . . . . g.11397
GTGGAAGGCAGGCATTTTAGTGATCAAGGTGAAAATGTGGCTGAAATTAACAGACAAGTT c.240
V E G R H F S D Q G E N V A E I N R Q V p.80
. . . | 03 . . . g.14480
GGTCAAAAACTTGGACTCTCAAATGGGGGACAG | GTATTTCTCAAGCCATGTTCCCATGTG c.300
G Q K L G L S N G G Q | V F L K P C S H V p.100
. . . . . | 04. g.15279
GTATCTTGTCAACAAGTTGAGGTGGAACCCCTCTCAGCAGATGATTGGGAGATACTG | GAG c.360
V S C Q Q V E V E P L S A D D W E I L | E p.120
. . . . . . g.15339
CTGCATGCTGTTTCCCTTGAACAACATCTTCTAGATCAAATTCGAATAGTTTTTCCAAAA c.420
L H A V S L E Q H L L D Q I R I V F P K p.140
. . . . . | 05 . g.15497
GCCATTTTTCCTGTTTGGGTTGATCAACAAACGTACATATTTATCCAAATTG | TTGCACTA c.480
A I F P V W V D Q Q T Y I F I Q I V | A L p.160
. . . . . . g.15557
ATACCAGCTGCCTCTTATGGAAGGCTGGAAACTGACACCAAACTCCTTATTCAGCCAAAG c.540
I P A A S Y G R L E T D T K L L I Q P K p.180
. . . . . . g.15617
ACACGCCGAGCCAAAGAGAATACATTTTCAAAAGCTGATGCTGAATATAAAAAACTTCAT c.600
T R R A K E N T F S K A D A E Y K K L H p.200
. . . . . . g.15677
AGTTATGGAAGAGACCAGAAAGGAATGATGAAAGAACTTCAAACCAAGCAACTTCAGTCA c.660
S Y G R D Q K G M M K E L Q T K Q L Q S p.220
. . . . . . g.15737
AATACTGTGGGAATCACTGAATCTAATGAAAACGAGTCAGAGATTCCAGTTGACTCATCA c.720
N T V G I T E S N E N E S E I P V D S S p.240
. . . . . . g.15797
TCAGTAGCAAGTTTATGGACTATGATAGGAAGCATTTTTTCCTTTCAATCTGAGAAGAAA c.780
S V A S L W T M I G S I F S F Q S E K K p.260
. . . . . . g.15857
CAAGAGACATCTTGGGGTTTAACTGAAATCAATGCATTCAAAAATATGCAGTCAAAGGTT c.840
Q E T S W G L T E I N A F K N M Q S K V p.280
. . . . . . g.15917
GTTCCTCTAGACAATATTTTCAGAGTATGCAAATCTCAACCTCCTAGTATATATAACGCG c.900
V P L D N I F R V C K S Q P P S I Y N A p.300
. . . . . . g.15977
TCAGCAACCTCTGTTTTTCATAAACACTGTGCCATTCATGTATTTCCATGGGACCAGGAA c.960
S A T S V F H K H C A I H V F P W D Q E p.320
. . . . . . g.16037
TATTTTGATGTAGAGCCCAGCTTTACTGTGACATATGGAAAGCTAGTTAAGCTACTTTCT c.1020
Y F D V E P S F T V T Y G K L V K L L S p.340
. . . . . . g.16097
CCAAAGCAACAGCAAAGTAAAACAAAACAAAATGTGTTATCACCTGAAAAAGAGAAGCAG c.1080
P K Q Q Q S K T K Q N V L S P E K E K Q p.360
. . . . . . g.16157
ATGTCAGAGCCACTAGATCAAAAAAAAATTAGGTCAGATCATAATGAAGAAGATGAGAAG c.1140
M S E P L D Q K K I R S D H N E E D E K p.380
. . . . . . g.16217
GCCTGTGTGCTACAAGTAGTCTGGAATGGACTTGAAGAATTGAACAATGCCATCAAATAT c.1200
A C V L Q V V W N G L E E L N N A I K Y p.400
. . . | 06 . . g.19585
ACCAAAAATGTAGAAGTTCTCCATCTTGGGAAAGTCTGG | ATTCCAGATGACCTGAGGAAG c.1260
T K N V E V L H L G K V W | I P D D L R K p.420
. . . . . . g.19645
AGACTAAATATAGAAATGCATGCCGTAGTCAGGATAACTCCAGTGGAAGTTACCCCTAAA c.1320
R L N I E M H A V V R I T P V E V T P K p.440
. . . | 07 . . g.21849
ATTCCAAGATCTCTAAAGTTACAACCTAGAGAGAATTTA | CCTAAAGACATAAGTGAAGAA c.1380
I P R S L K L Q P R E N L | P K D I S E E p.460
. . . . . . g.21909
GACATAAAAACTGTATTTTATTCATGGCTACAGCAGTCTACTACCACCATGCTTCCTTTG c.1440
D I K T V F Y S W L Q Q S T T T M L P L p.480
. . . . | 08 . . g.22501
GTAATATCAGAGGAAGAATTTATTAAGCTGGAAACTAAAGATG | GACTGAAGGAATTTTCT c.1500
V I S E E E F I K L E T K D G | L K E F S p.500
. . . . . . g.22561
CTGAGTATAGTTCATTCTTGGGAAAAAGAAAAAGATAAAAATATTTTTCTGTTGAGTCCC c.1560
L S I V H S W E K E K D K N I F L L S P p.520
. . | 09. . . . g.24153
AATTTGCTGCAGAAGACTACAATACAA | GTCCTTCTAGATCCTATGGTAAAAGAAGAAAAC c.1620
N L L Q K T T I Q | V L L D P M V K E E N p.540
. . . . . | 10 . g.26415
AGTGAGGAAATTGACTTTATTCTTCCTTTTTTAAAGCTGAGCTCTTTGGG | AGGAGTGAAT c.1680
S E E I D F I L P F L K L S S L G | G V N p.560
. . . . . . g.26475
TCCTTAGGCGTATCCTCCTTGGAGCACATCACTCACAGCCTCCTGGGACGCCCTTTGTCT c.1740
S L G V S S L E H I T H S L L G R P L S p.580
. . . . . . g.26535
CGGCAGCTGATGTCTCTTGTTGCAGGACTTAGGAATGGAGCTCTTTTACTCACAGGAGGA c.1800
R Q L M S L V A G L R N G A L L L T G G p.600
| 11 . . . . . . g.27244
AAG | GGAAGTGGAAAATCAACTTTAGCCAAAGCAATCTGTAAAGAAGCATTTGACAAACTG c.1860
K | G S G K S T L A K A I C K E A F D K L p.620
. . . . | 12 . . g.28649
GATGCCCATGTGGAGAGAGTTGACTGTAAAGCTTTACGAG | GAAAAAGGCTTGAAAACATA c.1920
D A H V E R V D C K A L R G | K R L E N I p.640
. . . . . . g.28709
CAAAAAACCCTAGAGGTGGCTTTCTCAGAGGCAGTGTGGATGCAGCCATCTGTTGTCCTG c.1980
Q K T L E V A F S E A V W M Q P S V V L p.660
. . . . . . g.28769
CTGGATGACCTTGACCTCATTGCTGGACTGCCTGCTGTCCCGGAACATGAGCACAGTCCT c.2040
L D D L D L I A G L P A V P E H E H S P p.680
. . . | 13 . . . g.30365
GATGCGGTGCAGAGCCAGCGGCTTGCTCATG | CTTTGAATGATATGATAAAAGAGTTTATC c.2100
D A V Q S Q R L A H A | L N D M I K E F I p.700
. . . . . . g.30425
TCCATGGGAAGTTTGGTTGCACTGATTGCCACAAGTCAGTCTCAGCAATCTCTACATCCT c.2160
S M G S L V A L I A T S Q S Q Q S L H P p.720
. . . . . . g.30485
TTACTTGTTTCTGCTCAAGGAGTTCACATATTTCAGTGCGTCCAACACATTCAGCCTCCT c.2220
L L V S A Q G V H I F Q C V Q H I Q P P p.740
| 14 . . . . . . g.31506
AATCAG | GAACAAAGATGTGAAATTCTGTGTAATGTAATAAAAAATAAATTGGACTGTGAT c.2280
N Q | E Q R C E I L C N V I K N K L D C D p.760
. . . . . . g.31566
ATAAACAAGTTCACCGATCTTGACCTGCAGCATGTAGCTAAAGAAACTGGCGGGTTTGTG c.2340
I N K F T D L D L Q H V A K E T G G F V p.780
. . . . . . g.31626
GCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATTCTCGACTCTCTCGTCAGAGT c.2400
A R D F T V L V D R A I H S R L S R Q S p.800
. | 15 . . . . . g.31902
ATATCCACCAGAGAAA | AATTAGTTTTAACAACATTGGACTTCCAAAAGGCTCTCCGCGGA c.2460
I S T R E K | L V L T T L D F Q K A L R G p.820
. . . . . . g.31962
TTTCTTCCTGCGTCTTTGCGAAGTGTCAACCTGCATAAACCTAGAGACCTGGGTTGGGAC c.2520
F L P A S L R S V N L H K P R D L G W D p.840
. . . . . . g.32022
AAGATTGGTGGGTTACATGAAGTTAGGCAGATACTCATGGATACTATCCAGTTACCTGCC c.2580
K I G G L H E V R Q I L M D T I Q L P A p.860
| 16 . . . . . . g.33750
AAG | TATCCAGAATTATTTGCAAACTTGCCCATACGACAAAGAACAGGAATACTGTTGTAT c.2640
K | Y P E L F A N L P I R Q R T G I L L Y p.880
. . . . . . g.33810
GGTCCGCCTGGAACAGGAAAAACCTTACTAGCTGGGGTAATTGCACGAGAGAGTAGAATG c.2700
G P P G T G K T L L A G V I A R E S R M p.900
. | 17 . . . . g.36796
AATTTTATAAGTGTCAAG | GGGCCAGAGTTACTCAGCAAATACATTGGAGCAAGTGAACAA c.2760
N F I S V K | G P E L L S K Y I G A S E Q p.920
. . | 18 . . . . g.38939
GCTGTTCGGGATATTTTTATTAG | AGCACAGGCTGCAAAGCCCTGCATTCTTTTCTTTGAT c.2820
A V R D I F I R | A Q A A K P C I L F F D p.940
. . . . . . g.38999
GAATTTGAATCCATTGCTCCTCGGCGGGGTCATGATAATACAGGAGTTACAGACCGAGTA c.2880
E F E S I A P R R G H D N T G V T D R V p.960
. . . . | 19 . . g.39149
GTTAACCAGTTGCTGACTCAGTTGGATGGAGTAGAAGGCTTACAGG | GTGTTTATGTATTG c.2940
V N Q L L T Q L D G V E G L Q G | V Y V L p.980
. . . . . . g.39209
GCTGCTACTAGTCGCCCTGACTTGATTGACCCTGCCCTGCTTAGGCCTGGTCGACTAGAT c.3000
A A T S R P D L I D P A L L R P G R L D p.1000
. . . | 20 . . . g.40432
AAATGTGTATACTGTCCTCCTCCTGATCAG | GTGTCACGTCTTGAAATTTTAAATGTCCTC c.3060
K C V Y C P P P D Q | V S R L E I L N V L p.1020
. . . . . . g.40492
AGTGACTCTCTACCTCTGGCAGATGATGTTGACCTTCAGCATGTAGCATCAGTAACTGAC c.3120
S D S L P L A D D V D L Q H V A S V T D p.1040
. . . . . . g.40552
TCCTTTACTGGAGCTGATCTGAAAGCTTTACTTTACAATGCCCAATTGGAGGCCTTACAT c.3180
S F T G A D L K A L L Y N A Q L E A L H p.1060
. . | 21. . . . g.42062
GGAATGCTGCTCTCGAGTGGACTCCAG | GATGGAAGTTCCAGCTCTGATAGTGACCTAAGT c.3240
G M L L S S G L Q | D G S S S S D S D L S p.1080
. . . . . . g.42122
CTGTCTTCAATGGTCTTTCTTAACCATAGCAGTGGCTCTGACGATTCAGCTGGAGATGGA c.3300
L S S M V F L N H S S G S D D S A G D G p.1100
. . . . . . g.42182
GAATGTGGCTTAGATCAGTCCCTTGTTTCTTTAGAGATGTCCGAGATCCTTCCAGATGAA c.3360
E C G L D Q S L V S L E M S E I L P D E p.1120
. . . . . . g.42242
TCAAAATTCAATATGTACCGGCTCTACTTTGGAAGCTCTTATGAATCAGAACTTGGAAAT c.3420
S K F N M Y R L Y F G S S Y E S E L G N p.1140
. | 22 . . . . g.43662
GGAACCTCTTCTGATTTG | AGCTCACAATGTCTCTCTGCACCAAGCTCCATGACTCAGGAT c.3480
G T S S D L | S S Q C L S A P S S M T Q D p.1160
. . . . . . g.43722
TTGCCTGGAGTTCCTGGGAAAGACCAGTTGTTTTCACAGCCTCCAGTGTTAAGGACAGCT c.3540
L P G V P G K D Q L F S Q P P V L R T A p.1180
. . . . . . g.43782
TCACAAGAGGGTTGCCAAGAACTTACACAAGAACAAAGAGATCAACTGAGGGCAGATATC c.3600
S Q E G C Q E L T Q E Q R D Q L R A D I p.1200
. . . | 23 . . . g.44132
AGTATTATCAAAGGCAGATACCGGAGCCAAAGTGGA | GAGGACGAATCCATGAACCAACCA c.3660
S I I K G R Y R S Q S G | E D E S M N Q P p.1220
. . . . . . g.44192
GGACCAATCAAAACCAGACTGGCTATTAGTCAGTCACATTTAATGACTGCACTTGGTCAC c.3720
G P I K T R L A I S Q S H L M T A L G H p.1240
. . . . | 24. . g.46003
ACAAGACCATCCATTAGTGAAGATGACTGGAAGAATTTTGCTGAGCT | ATATGAAAGCTTT c.3780
T R P S I S E D D W K N F A E L | Y E S F p.1260
. . . . . . g.46063
CAAAATCCAAAGAGGAGAAAAAATCAAAGTGGAACAATGTTTCGACCTGGACAGAAAGTA c.3840
Q N P K R R K N Q S G T M F R P G Q K V p.1280
. g.46075
ACTTTAGCATAA c.3852
T L A X p.1283
. . . . . . g.46135
aatatacttctttttgatttggttctgttaagttttttgatggcttttccatatgttgta c.*60
. . . . . . g.46195
acaggaaaaaaatggtgtctatgaatttcttcttaatttaacaaatttggttaatttata c.*120
. . . . . . g.46255
aaatcacagattggtaaatgctataattatgtaatgatcaggattgagattaatactgta c.*180
. . . . . . g.46315
gtataaattgggacattataacagattccatattttatttcctaaaatctaaattcagtc c.*240
. . . . . . g.46375
tttaatgaaataatattagccaaatggtggaactaatttatttcttttgaggaaaagata c.*300
. . . . . . g.46435
ataaagaatgtaattaaatttaaatttcttggaattcccagttgtatattcatcaccttt c.*360
. . . . . . g.46495
gtagcatttgacaaattttatgcttagcagcttcttcactgttttgaaataaaatatcct c.*420
. g.46509
attacctactgata c.*434
(downstream sequence)
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