(used for variant description)
(last modified December 7, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001198533.1 in the OXR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering OXR1 transcript NM_001198533.1.
(upstream sequence)
. . g.5028
atgtctgcaagcgctcagcggcgccggc c.-301
. . . . . . g.5088
agcagcggggctagagctgggctgcgtcaggctgagcccattcacctcgcggccacagga c.-241
. . . . . . g.5148
gctcagcgccggcgccgcgccgcccagccccgccgagaggggcgcactcgccgccgcggg c.-181
. . . . . | 02 . g.94316
gcccgccgccgctcaccgcagccccctcctggcgacccgcaa | gtcctctcaaactgtgag c.-121
. . . . . . g.94376
taactaagtggtttgtgcatcattccagaagcaaagctaaaatttttagcggtgttgtcg c.-61
. . . . . . g.94436
acttgacctgctaatttcctgttctggaatcgagagaagactcctcaacaagttgctgca c.-1
. . | 03 . . . . g.253802
ATGTCTGTGTCTAATCTATCATG | GCTGAAGAAAAAGTCCCAGTCGGTGGATATTAATGCT c.60
M S V S N L S W | L K K K S Q S V D I N A p.20
. . . . . . g.253862
CCAGGGTTCAACCCTTTGGCTGGTGCAGGAAAGCAAACACCACAAGCCAGTAAGCCCCCG c.120
P G F N P L A G A G K Q T P Q A S K P P p.40
. . . . . . g.253922
GCACCCAAGACCCCCATCATTGAAGAAGAGCAGAACAATGCAGCAAATACTCAGAAACAT c.180
A P K T P I I E E E Q N N A A N T Q K H p.60
. . . . | 04 . . g.414052
CCTTCCAGAAGGAGCGAACTGAAGAGGTTCTACACAATTG | ACACTGGCCAAAAGAAGACC c.240
P S R R S E L K R F Y T I D | T G Q K K T p.80
. . . . . . g.414112
CTAGACAAGAAAGATGGAAGACGAATGTCTTTTCAGAAACCTAAAGGGACTATTGAGTAT c.300
L D K K D G R R M S F Q K P K G T I E Y p.100
| 05 . . . . . . g.418078
ACT | GTTGAATCAAGGGATTCTTTGAATAGCATAGCCCTGAAGTTTGATACAACACCTAAC c.360
T | V E S R D S L N S I A L K F D T T P N p.120
. . . . . | 06 . g.419077
GAACTTGTTCAATTAAATAAGTTATTCTCCCGAGCAGTTGTTACTGGACAG | GTTCTGTAT c.420
E L V Q L N K L F S R A V V T G Q | V L Y p.140
. . . . . . g.419137
GTTCCTGATCCTGAATATGTCTCCAGTGTTGAGAGCTCTCCATCTCTAAGCCCCGTAAGT c.480
V P D P E Y V S S V E S S P S L S P V S p.160
. . . . | 07 . . g.427565
CCTCTGTCACCAACATCATCTGAGGCTGAATTTGATAAGACCACT | AATCCTGATGTCCAT c.540
P L S P T S S E A E F D K T T | N P D V H p.180
. . . . . . g.427625
CCAACAGAAGCAACTCCCTCATCTACTTTCACTGGTATTCGACCTGCACGAGTTGTATCT c.600
P T E A T P S S T F T G I R P A R V V S p.200
. . . . . . g.427685
TCAACTTCTGAGGAGGAGGAAGCATTTACTGAGAAATTTCTTAAAATTAATTGCAAATAT c.660
S T S E E E E A F T E K F L K I N C K Y p.220
. | 08 . . . . . g.437773
ATTACCAGTGGCAAG | GGCACAGTCAGTGGTGTGCTGCTAGTTACACCAAATAATATAATG c.720
I T S G K | G T V S G V L L V T P N N I M p.240
. . . . . . g.437833
TTTGATCCACATAAAAATGACCCTTTGGTTCAAGAGAATGGCTGTGAGGAATATGGCATC c.780
F D P H K N D P L V Q E N G C E E Y G I p.260
. . . . . . g.437893
ATGTGTCCAATGGAAGAGGTGATGTCAGCTGCAATGTACAAAGAAATTTTGGATAGCAAA c.840
M C P M E E V M S A A M Y K E I L D S K p.280
. . | 09 . . . . g.441244
ATAAAGGAATCTTTACCCAT | AGATATAGATCAGCTATCAGGAAGGGACTTCTGCCATTCA c.900
I K E S L P I | D I D Q L S G R D F C H S p.300
. . . . . . g.441304
AAGAAAATGACAGGAAGTAACACTGAGGAAATAGACTCAAGAATCCGAGATGCAGGTAAT c.960
K K M T G S N T E E I D S R I R D A G N p.320
. . . . . . g.441364
GATAGTGCCAGCACTGCTCCTAGGAGCACTGAGGAGTCTCTTTCTGAAGATGTGTTCACA c.1020
D S A S T A P R S T E E S L S E D V F T p.340
. . . . . . g.441424
GAATCAGAACTTTCCCCTATACGAGAGGAGCTTGTATCTTCAGATGAACTGCGACAAGAT c.1080
E S E L S P I R E E L V S S D E L R Q D p.360
. . . . . . g.441484
AAATCTTCTGGTGCGTCATCAGAATCTGTGCAAACTGTCAATCAGGCTGAAGTAGAAAGT c.1140
K S S G A S S E S V Q T V N Q A E V E S p.380
. . . . . . g.441544
CTGACAGTCAAATCAGAATCTACTGGTACTCCTGGTCACTTAAGATCTGATACTGAACAT c.1200
L T V K S E S T G T P G H L R S D T E H p.400
. . . . . . g.441604
TCTACAAATGAAGTTGGGACTTTATGTCATAAAACTGATTTAAATAATCTTGAAATGGCC c.1260
S T N E V G T L C H K T D L N N L E M A p.420
. . . . . . g.441664
ATTAAGGAAGATCAGATTGCAGATAACTTTCAAGGAATATCAGGTCCTAAAGAAGACAGC c.1320
I K E D Q I A D N F Q G I S G P K E D S p.440
. . . . . . g.441724
ACAAGTATAAAAGGTAATTCAGACCAGGATTCTTTTCTTCATGAGAATTCGTTACACCAA c.1380
T S I K G N S D Q D S F L H E N S L H Q p.460
. . . . . . g.441784
GAAGAGAGTCAAAAAGAAAATATGCCTTGTGGGGAAACAGCAGAATTTAAACAAAAGCAA c.1440
E E S Q K E N M P C G E T A E F K Q K Q p.480
. . . . . . g.441844
AGTGTTAACAAAGGAAAACAAGGAAAGGAGCAAAATCAGGACTCACAGACAGAGGCAGAA c.1500
S V N K G K Q G K E Q N Q D S Q T E A E p.500
. . . . . . g.441904
GAGCTACGCAAACTTTGGAAAACCCATACTATGCAACAAACTAAACAGCAAAGGGAAAAT c.1560
E L R K L W K T H T M Q Q T K Q Q R E N p.520
. . . . . . g.441964
ATTCAACAAGTGTCACAAAAAGAAGCTAAGCATAAAATTACATCTGCTGATGGACACATA c.1620
I Q Q V S Q K E A K H K I T S A D G H I p.540
| 10 . . . . . . g.445500
GAAA | GTTCTGCACTTTTAAAAGAAAAGCAAAGGCATCGATTACATAAGTTCTTGTGTCTC c.1680
E S | S A L L K E K Q R H R L H K F L C L p.560
. . . . . . g.445560
AGAGTTGGAAAACCAATGAGGAAAACGTTTGTATCTCAAGCAAGTGCTACAATGCAACAG c.1740
R V G K P M R K T F V S Q A S A T M Q Q p.580
. . . . . | 11 . g.448652
TATGCACAGAGAGATAAGAAACATGAATATTGGTTTGCTGTGCCACAAGAAAG | GACAGAT c.1800
Y A Q R D K K H E Y W F A V P Q E R | T D p.600
. . . . . . g.448712
CACTTGTATGCCTTCTTCATTCAGTGGAGTCCAGAAATATATGCAGAAGATACTGGCGAA c.1860
H L Y A F F I Q W S P E I Y A E D T G E p.620
. . . . . . g.448772
TATACCAGAGAACCTGGATTTATAGTAGTAAAAAAGATTGAGGAGTCTGAAACAATTGAG c.1920
Y T R E P G F I V V K K I E E S E T I E p.640
. . . | 12 . . . g.472366
GATTCTAGTAATCAAGCAGCAGCCAGAGAATGGGAG | GTAGTGTCAGTGGCTGAGTATCAC c.1980
D S S N Q A A A R E W E | V V S V A E Y H p.660
. . . . . | 13. g.474283
CGCAGGATCGATGCTCTAAATACTGAAGAACTGCGCACACTCTGCAGACGCCTCCAG | ATT c.2040
R R I D A L N T E E L R T L C R R L Q | I p.680
. . . . . . g.474343
ACTACAAGGGAAGACATAAATTCAAAGCAGGTTGCTACAGTGAAAGCAGACCTGGAGTCT c.2100
T T R E D I N S K Q V A T V K A D L E S p.700
. . . . . . g.474403
GAATCTTTTCGACCAAACCTAAGTGATCCCAGTGAACTTTTACTGCCAGATCAAATTGAA c.2160
E S F R P N L S D P S E L L L P D Q I E p.720
| 14 . . . . . . g.475222
AAG | CTTACCAAGCATCTTCCACCAAGAACAATTGGCTATCCATGGACTCTTGTTTATGGT c.2220
K | L T K H L P P R T I G Y P W T L V Y G p.740
. . . . . . g.475282
ACTGGAAAACATGGCACAAGCTTGAAAACTCTTTATCGAACAATGACAGGTTTAGACACC c.2280
T G K H G T S L K T L Y R T M T G L D T p.760
. . . | 15 . . . g.477068
CCAGTGCTGATGGTGATTAAAGACAGTGATGGACAG | GTTTTTGGTGCGTTAGCATCTGAG c.2340
P V L M V I K D S D G Q | V F G A L A S E p.780
. . . . . . g.477128
CCACTGAAAGTGAGTGATGGCTTTTATGGTACTGGAGAGACCTTTGTTTTTACATTCTGT c.2400
P L K V S D G F Y G T G E T F V F T F C p.800
. | 16 . . . . . g.480659
CCGGAGTTTGAG | GTCTTTAAGTGGACAGGAGATAATATGTTTTTTATCAAAGGAGACATG c.2460
P E F E | V F K W T G D N M F F I K G D M p.820
. . | 17 . . . . g.485662
GATTCACTAGCTTTCGGTGGTGGAGG | AGGAGAATTTGCGCTTTGGCTTGATGGAGATCTC c.2520
D S L A F G G G G | G E F A L W L D G D L p.840
. . . . . . g.485722
TACCATGGAAGAAGCCATTCTTGTAAAACGTTTGGGAATCGTACACTTTCTAAGAAGGAA c.2580
Y H G R S H S C K T F G N R T L S K K E p.860
. . . . g.485764
GATTTCTTTATCCAAGATATTGAAATCTGGGCTTTTGAATAA c.2622
D F F I Q D I E I W A F E X p.873
. . . . . . g.485824
ataaaatgctctctgtcttagcaggagaatggcccaaacctgacatggacaagcattgtt c.*60
. . . . . . g.485884
tggaaagttcaagaagcaatacagtgtaacatgtcacttgtgctttaaaattagtctgta c.*120
. . . . . . g.485944
tcaccatttattacagttataattttggagtttatttttcaaatcatgttcttgtcccag c.*180
. . . . . . g.486004
agttctttaggttaacactagggactgcgtccatgtactagtataacagcttgggtttgt c.*240
. . . . . . g.486064
tagaatttgggcaacattttgattataatgacaacttcattttcacatgttactcagttc c.*300
. . . . . . g.486124
cctaataggatggtgctcttttgttgaacctgtattgatttttttttttttaactatatt c.*360
. . . . . . g.486184
gattcgtttactagaacagtctaattggggcattgaggaaatgaagactggatacttctg c.*420
. . . . . . g.486244
tatctgtgaagttggcacaggtaacatttggacatgttcatcttattcttaggaaggaaa c.*480
. . . . . . g.486304
aaatcacttgccaaaataatacatacttcatagaccactgagttctagtttttattcaca c.*540
. . . . . . g.486364
ctacaacattctctttaacgatgttgcaggtattctcaatttccttttaagaaaaatgaa c.*600
. . . . . . g.486424
atgtgaggagaattctggttgtaatagatgacagtacatatgatctgcaggtttgggcat c.*660
. . . . . . g.486484
atgctttcatcattaaattatctgataaagttacaagtcacaaaggagaatgagaactta c.*720
. . . . . . g.486544
atgattctattggatttaatatattagcaagaaaacatactatttacatatgtgtagctt c.*780
. . . . . . g.486604
agtaaggcattaacataagtacaaaaactatgaaacagatgcatatttcctcaacatact c.*840
. . . . . . g.486664
gtgtcaggtatactgttttataatttggttgttttagccttattgcacaccaactcccaa c.*900
. . . . . . g.486724
aatataggttactcttgttcaaaaggaaaaaaaaaattgtgattttctttgagtggtata c.*960
. . . . . . g.486784
tgttattaattaccattagcatttgctcttataaagggcaatgattatagtagacaatat c.*1020
. . . . . . g.486844
tgtaactcagtagacttgttgaatatgcaaacttactgtcaagtgacctcaaaaaaaaaa c.*1080
. . . . . . g.486904
tgaaaagatagaatacactagtagttcttatcctcttttgtaggaaaccaataatagcca c.*1140
. . . . . . g.486964
ttgtggcaataattcatcagttgattttaaagcttcatgttatgcaaaaaagaatcctgc c.*1200
. . . . . . g.487024
tgttatacatgtgacagtgactttgtgctgaaatttcagctattccagataaacattgta c.*1260
. . . . . . g.487084
tatcttgtaaattaatgtttaaaggtgtagttttgttcttacagaaagtgttgattgcca c.*1320
. . . . . . g.487144
ggttgcttatagcactttaagttattctaaaaatgaaattataagccaaatatttggctt c.*1380
. . . . . . g.487204
aagtagatttagttgtatagcacttacatatttagttcttttgaaagtttagataattat c.*1440
. . . . . . g.487264
ttaaagaaagcataatgctaatggaaaagaaaatctgatgttctattataatatgctatt c.*1500
. . . . . . g.487324
gctgaatatgaatagaaatacagggcatcatttccttgtctcattataagttagtaacaa c.*1560
. . . . . . g.487384
tatatagattaaatgtttacaatatagggaattgtaaataaatatatcagtttttttccc c.*1620
. . . . . . g.487444
cttcggtcttccacagcagtattattgtctttgtggagttgactaatgataatttaaaaa c.*1680
. . . . . . g.487504
tcctgtaatggatttctactaaaataaggtcatagtggcatataccaaataaaatcaaat c.*1740
. g.487517
acagaaatacaaa c.*1753
(downstream sequence)
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