(used for variant description)
(last modified January 7, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_004035.6 in the ACOX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering ACOX1 transcript NM_004035.6.
(upstream sequence)
g.5001
a c.-361
. . . . . . g.5061
aaaagtgctttattttcccactccccggacgcccagcagggcagtttcttgaccttcgga c.-301
. . . . . . g.5121
gcccctttcccgaggatccgctcgggagcctcccctggccaggagcaggggattagtctg c.-241
. . . . . . g.5181
ccccgcgaccggccccagccacgacgcggacatcgccccctctgtctgggccgctgtcac c.-181
. . . . . . g.5241
tcacgcgccaaagggccacggagaaagaaggggcgggccggggcgggccgggcgagcgga c.-121
. . . . . . g.5301
ggcggggacttgcgccgtcctgaggctgcctcctagggtccggccggcgctggagctgcg c.-61
. . . . . . g.5361
gatttagattgtcactgccacctcggtcggtgcttacttcgctgccagctggtcgtcgcc c.-1
. . . . . . g.5421
ATGAACCCGGACCTGCGCAGGGAGCGGGATTCCGCCAGCTTCAACCCGGAGCTGCTTACA c.60
M N P D L R R E R D S A S F N P E L L T p.20
. . . . | 02 . g.5752
CACATCCTGGACGGCAGCCCCGAGAAAACCCGGCGCCGCCGAGAGATCG | AGAACATGATC c.120
H I L D G S P E K T R R R R E I E | N M I p.40
. . . . . . g.5812
CTGAACGACCCAGACTTCCAGCATGAGGACTTGAACTTCCTCACTCGCAGCCAGCGTTAT c.180
L N D P D F Q H E D L N F L T R S Q R Y p.60
. . . . . . g.5872
GAGGTGGCTGTCAGGAAAAGTGCCATCATGGTGAAGAAGATGAGGGAGTTTGGCATCGCT c.240
E V A V R K S A I M V K K M R E F G I A p.80
. . | 03 . . . g.24090
GACCCTGATGAAATTATGTGGTTTAAAAA | TTTTGTGCACCGAGGGCGGCCTGAGCCTCTG c.300
D P D E I M W F K N | F V H R G R P E P L p.100
. . . . . . g.24150
GATCTTCACTTGGGCATGTTCCTGCCCACCTTGCTTCACCAGGCAACTGCGGAGCAGCAG c.360
D L H L G M F L P T L L H Q A T A E Q Q p.120
. . . . . . g.24210
GAGCGCTTCTTCATGCCCGCCTGGAACTTGGAGATCATTGGCACTTATGCCCAGACAGAG c.420
E R F F M P A W N L E I I G T Y A Q T E p.140
. | 04 . . . . . g.26918
ATGGGTCATG | GAACTCACCTTCGAGGCTTGGAAACCACAGCCACGTATGACCCTGAAACC c.480
M G H G | T H L R G L E T T A T Y D P E T p.160
. . . . . | 05 g.28489
CAGGAGTTCATTCTCAACAGTCCTACTGTGACCTCCATTAAATGGTGGCCTGGTGGGC | TT c.540
Q E F I L N S P T V T S I K W W P G G L | p.180
. . . . . . g.28549
GGAAAGACTTCAAATCATGCAATAGTTCTTGCCCAGCTCATCACTAAGGGGAAATGCTAT c.600
G K T S N H A I V L A Q L I T K G K C Y p.200
. . . . . | 06 g.28755
GGATTACATGCCTTTATCGTACCTATTCGTGAAATCGGGACCCATAAGCCTTTGCCAG | GA c.660
G L H A F I V P I R E I G T H K P L P G | p.220
. . . . . . g.28815
ATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTC c.720
I T V G D I G P K F G Y D E I D N G Y L p.240
. . . . . | 07 . g.30820
AAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGCCCAG | GTGAAG c.780
K M D N H R I P R E N M L M K Y A Q | V K p.260
. . . . . . g.30880
CCTGATGGCACATACGTGAAACCGCTGAGTAACAAGCTGACTTACGGGACCATGGTGTTT c.840
P D G T Y V K P L S N K L T Y G T M V F p.280
. . . . . . g.30940
GTCAGGTCCTTCCTTGTGGGAGAAGCTGCTCGGGCTCTGTCTAAGGCGTGCACCATTGCC c.900
V R S F L V G E A A R A L S K A C T I A p.300
. . . . | 08 . . g.32873
ATCCGATACAGCGCTGTGAGGCACCAGTCTGAAATCAAGCCAGG | TGAACCAGAACCACAG c.960
I R Y S A V R H Q S E I K P G | E P E P Q p.320
. . . . . . g.32933
ATTTTGGATTTTCAAACCCAGCAGTATAAACTCTTTCCACTCCTGGCCACTGCCTATGCC c.1020
I L D F Q T Q Q Y K L F P L L A T A Y A p.340
. . . . . . g.32993
TTCCAGTTTGTGGGCGCATACATGAAGGAGACCTATCACCGGATTAACGAAGGCATTGGT c.1080
F Q F V G A Y M K E T Y H R I N E G I G p.360
. . | 09. . . . g.33503
CAAGGGGACCTGAGTGAACTGCCTGAG | CTTCATGCCCTCACCGCTGGACTGAAGGCTTTC c.1140
Q G D L S E L P E | L H A L T A G L K A F p.380
. . . . . . g.33563
ACCTCCTGGACTGCAAACACTGGCATTGAAGCATGTCGGATGGCTTGTGGTGGGCATGGC c.1200
T S W T A N T G I E A C R M A C G G H G p.400
. . . . . . g.33623
TATTCTCATTGCAGTGGTCTTCCAAATATTTATGTCAATTTCACCCCAAGCTGTACCTTT c.1260
Y S H C S G L P N I Y V N F T P S C T F p.420
. . . | 10 . . g.34559
GAGGGAGAAAACACTGTCATGATGCTCCAGACGGCTAG | GTTCCTGATGAAAAGTTATGAT c.1320
E G E N T V M M L Q T A R | F L M K S Y D p.440
. . . . . . g.34619
CAGGTGCACTCAGGAAAGTTGGTGTGTGGCATGGTGTCCTATTTGAACGACCTGCCCAGT c.1380
Q V H S G K L V C G M V S Y L N D L P S p.460
. . . . . . g.34679
CAGCGCATCCAGCCACAGCAGGTAGCAGTCTGGCCAACCATGGTGGATATCAACAGCCCC c.1440
Q R I Q P Q Q V A V W P T M V D I N S P p.480
. . . | 11 . . g.34856
GAAAGCCTAACCGAAGCATATAAACTCCGTGCAGCCAG | ATTAGTAGAAATTGCTGCAAAA c.1500
E S L T E A Y K L R A A R | L V E I A A K p.500
. . . . . . g.34916
AACCTTCAAAAAGAAGTGATTCACAGAAAAAGCAAGGAGGTAGCTTGGAACCTAACTTCT c.1560
N L Q K E V I H R K S K E V A W N L T S p.520
. . | 12 . . . . g.35110
GTTGACCTTGTTCGAGCAAGTGAG | GCACATTGCCACTATGTGGTAGTTAAGCTCTTTTCA c.1620
V D L V R A S E | A H C H Y V V V K L F S p.540
. . . . . . g.35170
GAAAAACTCCTCAAAATTCAAGATAAAGCCATTCAAGCTGTCTTAAGGAGTTTATGTCTG c.1680
E K L L K I Q D K A I Q A V L R S L C L p.560
. . . . | 13 . g.35989
CTGTATTCTCTGTATGGAATCAGTCAGAACGCGGGGGATTTCCTTCAG | GGGAGCATCATG c.1740
L Y S L Y G I S Q N A G D F L Q | G S I M p.580
. . . . . . g.36049
ACAGAGCCTCAGATTACACAAGTAAACCAGCGTGTAAAGGAGTTACTCACTCTGATTCGC c.1800
T E P Q I T Q V N Q R V K E L L T L I R p.600
. . . . . . g.36109
TCAGATGCTGTTGCTTTGGTTGATGCATTTGATTTTCAGGATGTGACACTTGGCTCTGTG c.1860
S D A V A L V D A F D F Q D V T L G S V p.620
. . . . . . g.36169
CTTGGCCGCTATGATGGGAATGTGTATGAAAACTTGTTTGAGTGGGCTAAGAACTCCCCA c.1920
L G R Y D G N V Y E N L F E W A K N S P p.640
. | 14 . . . . . g.37684
CTGAACAAAGCAGAG | GTCCACGAATCTTACAAGCACCTGAAGTCACTGCAGTCCAAGCTC c.1980
L N K A E | V H E S Y K H L K S L Q S K L p.660
g.37687
TGA c.1983
X p.660
. . . . . . g.37747
agtgtcacaaggacaagtttaatctgcttcagaaagcgcctgtgtgcaactcaaattttg c.*60
. . . . . . g.37807
tggaatctttttcgaattcaaatagctatagagcaaatgataaattgacccctttttata c.*120
. . . . . . g.37867
aatggagggaaaaaatgaacagatttcagagattaaatgaaaaaaagcagatgttttaag c.*180
. . . . . . g.37927
tgcaattaacactgaaagagacctgttaaaccattcagaaaaagcttaagaaatgcgata c.*240
. . . . . . g.37987
tgacttccttttgtaatgctgctgatcccagtagactatgacttttgataattagcagaa c.*300
. . . . . . g.38047
tttaactactgagtagttgattattttcacattttaattgctaatcactggctatataag c.*360
. . . . . . g.38107
tgtttttaagcaaaggtatttttgaagtggtgtagaacccttccaagctttcctgctcag c.*420
. . . . . . g.38167
tgttctaccagacttaccctggggcctggcttaaaagcaggattgaagaaaagggactgg c.*480
. . . . . . g.38227
gggaaggaaacttattggaaaacttgatgcgaatgagtttctgcttggcacagtctctgc c.*540
. . . . . . g.38287
ctgcttgctctcctttgctgatggattgcatttatcaaactattcatgctagcatttttc c.*600
. . . . . . g.38347
caacgagggaacttattccgcacgggcctactgtaggaccattgtctcgtgtaattagga c.*660
. . . . . . g.38407
attttccatttgaaggattgctaaattgtcacagtagtaggaagtatagggaaacctctc c.*720
. . . . . . g.38467
agctgtggcactgttgtagctttggagtgcagagtgtaactctgggacaatcagatttca c.*780
. . . . . . g.38527
catattctgtcatcttggcataagccattaaaagcttggagattactgtatttggcatta c.*840
. . . . . . g.38587
aaaaaaaatgtcacttaggtcagcactcccagacgtagcacagaaaaaccctttgacaca c.*900
. . . . . . g.38647
aaccatgtgttctgatttttggttcagaaaatattgaaactgtgagttgtttttttttta c.*960
. . . . . . g.38707
acaactgggaaaaaacaaaaacaaaaaactatagttagaaaaatggaagttccataggtt c.*1020
. . . . . . g.38767
ctatttcttactctatgtatggctttgttttcagtctatttctaggagctttctctgaat c.*1080
. . . . . . g.38827
cgctaattgtcctttcagttgaaatctaatttatacaatcattctatacttaaaggttaa c.*1140
. . . . . . g.38887
atacatcttaattaattttttcttaaagtcaatgtaagtcactttgttttgttttttttt c.*1200
. . . . . . g.38947
aatctacgccatatgcctcatgaaaccagctgttctagaatcagtcctgagaatatggct c.*1260
. . . . . . g.39007
taattccatggaaacataactcctatcttgggacctgacataatatctatctatcctggg c.*1320
. . . . . . g.39067
gaactggtaatatgagacttataggttacagcagaaatgctacatgttgacaaaagcctt c.*1380
. . . . . . g.39127
aatcgttccactgggagaactaattgataattgtgttaagattgaagattaaccctgtgt c.*1440
. . . . . . g.39187
taatctcacttgagtctatcctgacagtagttcagattctggaaaatgataaactgacct c.*1500
. . . . . . g.39247
gctagatgtagaattgtttcaaaattagtgttgaaataccttgttcacagatgaatatct c.*1560
. . . . . . g.39307
gggcaggatctgagggtgtttggaatgacaccccccaatccagttgcatagatgggatgt c.*1620
. . . . . . g.39367
ctttgcaggtttgaggagatcatcgacctgcagagccccctttgacccagtacctcacgt c.*1680
. . . . . . g.39427
tttatttaaaatctaaatctggggccaggcgtggtggctcacgcctgtaatccaagcact c.*1740
. . . . . . g.39487
ttgggaggccgaagcgggtggatcacctgaggtcaggagtttgagaccatcctggccaac c.*1800
. . . . . . g.39547
atggtgaaaccccgtctctactgaaaaaaatacaaaaattagctgggcatggtggtagca c.*1860
. . . . . . g.39607
cgcgcctgtagtcccagctactcgggaggctgaggcaggataatcgcttgaacttggcgg c.*1920
. . . . . . g.39667
gtagaggttgcagtgagccaagatggtgccactacactgcagcctgggtggctgagcgag c.*1980
. . . . . . g.39727
actccgtctcaaaaaaaaaatctaaatctgacatttgatgctatttttattaatattgga c.*2040
. . . . . . g.39787
atgttctgtcttgaactttattcaatataatcaagaataaagatagagtaaacgtcactg c.*2100
. . . . . . g.39847
atttgtactattaagagagaaaaaatatgccacacaactaaacataggtttaaattatga c.*2160
. . . . . . g.39907
agaaatttagaatagaggtttattagatttagggaacactaagaacaaaaaaggaaggag c.*2220
. . . . . . g.39967
tgatacctgcctgagtggacagctgtaaatcagctgtaattactgcagttgtaccaatag c.*2280
. . . . . . g.40027
ttgtgagtggctccagtcactttaggagtccttggaagtacttggtacacatttgttggc c.*2340
. . . . . . g.40087
tgtaccttaaaggaagtggcaagtccagtttgttctctctaccacactagactgccactg c.*2400
. . . . . . g.40147
acaagtttgggtctgttggattcaaaattttgtaagccattttcacaagtacaaagatac c.*2460
. . . . . . g.40207
attttaaccttgtcttctccaaaattactgagtaggaattttatttttatctttttgaga c.*2520
. . . . . . g.40267
cagggtatcactgtcacccagactggagtgcagtggtgggatcttggcttactgtgacct c.*2580
. . . . . . g.40327
ctgcctcccgggttcaaatggtcctccctcctcagtctcctgagtagctgggacgacagg c.*2640
. . . . . . g.40387
cacgtgccaccatgcccagctaatttgttctattttttctgtagagacggggttttgcca c.*2700
. . . . . . g.40447
tgttgcccaggctggtctcagactcctgggctcaagcgatcatttcgcctcagcctccca c.*2760
. . . . . . g.40507
aagtgctgagattataggtgtgagccacagcatctggcccagagtgaggagaattaatga c.*2820
. . . . . . g.40567
gattttttgtgtgtgttagataatattgatttaagcctttttttaaaaagtactctcaac c.*2880
. . . . . . g.40627
caaatacaaaattgaaaatgtgaggtttaatagaaatgtgttggctatttgcaatggatt c.*2940
. . . . . . g.40687
ttcttcttgcccaagtgtttggagttctactttatgctctgtatttaaaaattagtgacc c.*3000
. . . . . . g.40747
tcaaagcagagttgatgacacaggctttggggccctcatgttcttgtctttagaacatat c.*3060
. . . . . . g.40807
cactactaagtatcagcttatcttcagaacattacaacattcaccgtgttcatatgcttt c.*3120
. . . . . . g.40867
ctgagaagtcaccacttgtaatttcagatcacatacacctgaaggcattttatagttcct c.*3180
. . . . . . g.40927
aaagttaacatgttagatcttttttttccaccccatgagggtctcactctcacccaggct c.*3240
. . . . . . g.40987
ggaatgcagtggtgtgattgtagcacactttggccaccaactcctgggctcaagtgatcc c.*3300
. . . . . . g.41047
tcctgctttggcctcctctgagaagctgggattactggtgcacaccaccacacctggcta c.*3360
. . . . . . g.41107
attttttatttttttttatttttggaaatagggtatggctatgttgccttgggcccgtca c.*3420
. . . . . . g.41167
tgaactcctagcctcaggtgaccctcccacctcaggcctcccaaagggttgggattacag c.*3480
. . . . . . g.41227
gagtgagctactgcactgggccaacatgttaatttttttttttttttttttgagatggag c.*3540
. . . . . . g.41287
tctcccaggcgggaatgcaatggtgcgatctcgacttcactgcaatcttcacctcccggg c.*3600
. . . . . . g.41347
ttcgagcgattctcccacctcagcctcctgagtagctgggattacaggcacctgccatca c.*3660
. . . . . . g.41407
cgctcggctaatttttgtattttgagcagagatggagtttcaccatgttggccaggtgat c.*3720
. . . . . . g.41467
ctgcactcccactccccccacacttcccaaagtgctgggattacaggcataagccacaag c.*3780
. . . . . . g.41527
ccacctcacccagccaacatgttacatcttaattcttggattttcttcactgcagggctt c.*3840
. . . . . . g.41587
tgggtggagaaataaaactcttcaaatgcatgatcttggagatccctgtgaatcaataat c.*3900
. . . . . . g.41647
tctttagacaactgcggctcaaaatccctcctttcccttttccgagttattccatccatc c.*3960
. . . . . . g.41707
ttattagaaaggaagtgaattaggtgtaggtggtctgtaacacctgcacatctttttata c.*4020
. . . . . . g.41767
cgtgtagagggtatgcctgggatatataggttgtcttcaagcagtagctgctactacagc c.*4080
. . . . . . g.41827
tagagagaggaggagtgccaggaaactgatgacctgagaccaagagtcttgttgatgttc c.*4140
. . . . . . g.41887
tgacttagataaaggttttgatcattttcatgaaataatgcagggaagtcatttctgctg c.*4200
. . . . . . g.41947
tttctttactactccattcttggaggattagaacaagtcacactgtaattgactaaaacg c.*4260
. . . . . . g.42007
actttttattttaaaatattgatggtggggttttgcttttttttttttttttttttttga c.*4320
. . . . . . g.42067
gacgttgtcttgctctttcacccagggtagagtgcagtggcgaaatcttggctcactgca c.*4380
. . . . . . g.42127
acctctgcctcccgggttcaagcaattctctgcctcagcctcctgagaagctgggattac c.*4440
. . . . . . g.42187
agcgcctgccaccatgcctgtctagtttttttgtatttttagtagagacaggggtttcac c.*4500
. . . . . . g.42247
caagttggccaggctggtcttgaactcctgacctcgtgatccacccacctcggcctccca c.*4560
. . . . . . g.42307
aagtgctgggattacaggcgtgagccaccgtgccgggccagtgtttttaactgtccacac c.*4620
. . . . . . g.42367
ttactaaattttccagtacttcttcctatggttcatgatagtaaacacagaaacatataa c.*4680
. . . . . . g.42427
ggaacattattagagttaccagatgttagctgttgcatatgtgcacattcctagattcaa c.*4740
. . . . . . g.42487
gggtgtttttgccttaaatttaagtgggtcattggttgtcttgggaagatcatggaaaat c.*4800
. . . . . . g.42547
tcgggattttttagaattctgaaccaaaatatgttttgagtgtttcttagtaaatgtgtg c.*4860
. . . . . . g.42607
atcttccaccttccacattcagactgcggactacacttcataaatgcctttttatttcca c.*4920
. . . . . . g.42667
gttatggattcaactaaatgactgccttgggagcacataattactttgctacctttttcc c.*4980
. . . . . . g.42727
ccctttgctgttgtggctcgagtttggttctcacctgagaagatgcattgagcatatgtt c.*5040
. . . . . . g.42787
gttacccagccctggcttaatggtgtcctgtggggtaggggtgggaggacgaggggcacg c.*5100
. . . . . . g.42847
gggccagagcatgtgaatggatcatggttggacagctgtgacctgccagcactgcgggta c.*5160
. . . . . . g.42907
agcaaaactacaaaccgttctttcctctgtgacattgaataaaccttaataaaattcata c.*5220
. . g.42928
attagcacatactagaaaaaa c.*5241
(downstream sequence)
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