(used for variant description)
(last modified March 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000436.3 in the OXCT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011823.1, covering OXCT1 transcript NM_000436.3.
(upstream sequence)
. . . g.5031
atcgaagctaaagggctgacagaagggctgt c.-301
. . . . . . g.5091
agcggcaagtgtgcgccaacacagctgcacacgcccagacacctgaggcgctgagaggaa c.-241
. . . . . . g.5151
cttccccgcgatccgccccggctgcacagagcctcttctccccgccggggccccgcccag c.-181
. . . . . . g.5211
cctcacttcttttaaaagcagcagccagcagcgcgccggtggcgtgcggctcgaaaggcc c.-121
. . . . . . g.5271
gggaggacgtcatcgacgcgctgtcgagcctccagcccgcccgggtttccttcgcagtcg c.-61
. . . . . . g.5331
cgcaccgacgctcaaacgcgcgctccaacccgcagcctcctcctgcctcaccgcccgaag c.-1
. . . . . . g.5391
ATGGCGGCTCTCAAACTCCTCTCCTCCGGGCTTCGGCTCTGCGCCTCTGCCCGCGGATCT c.60
M A A L K L L S S G L R L C A S A R G S p.20
. | 02 . . . . g.12981
GGGGCAACCTGGTACAAG | GGATGTGTTTGTTCCTTTTCCACCAGTGCTCATCGCCATACC c.120
G A T W Y K | G C V C S F S T S A H R H T p.40
. . . . . . g.13041
AAGTTTTATACAGATCCAGTAGAAGCTGTAAAAGACATCCCTGATGGTGCCACGGTTTTG c.180
K F Y T D P V E A V K D I P D G A T V L p.60
| 03. . . . . . g.14338
GTTGGTG | GTTTTGGGCTATGTGGAATTCCAGAGAATCTTATAGATGCTTTACTGAAAACT c.240
V G G | F G L C G I P E N L I D A L L K T p.80
. . . | 04 . . g.22157
GGAGTAAAAGGACTAACTGCAGTCAGCAACAATGCAGG | GGTTGACAATTTTGGTTTGGGG c.300
G V K G L T A V S N N A G | V D N F G L G p.100
. . . . . . g.22217
CTTTTGCTTCGGTCCAAGCAGATAAAACGCATGGTCTCTTCATATGTGGGAGAAAATGCA c.360
L L L R S K Q I K R M V S S Y V G E N A p.120
. . . . . | 05 . g.25516
GAATTTGAACGACAGTACTTATCTGGTGAATTAGAAGTGGAGCTGACACCACAG | GGCACA c.420
E F E R Q Y L S G E L E V E L T P Q | G T p.140
. . . . . . g.25576
CTTGCAGAGAGGATCCGTGCAGGCGGGGCTGGAGTTCCTGCATTTTACACCCCAACAGGG c.480
L A E R I R A G G A G V P A F Y T P T G p.160
. . . . . . g.25636
TATGGGACCCTGGTACAAGAAGGAGGATCGCCCATCAAATACAACAAAGATGGCAGTGTT c.540
Y G T L V Q E G G S P I K Y N K D G S V p.180
. . | 06 . . . . g.32944
GCCATTGCCAGTAAGCCAAGAGAG | GTGAGGGAGTTCAATGGTCAGCACTTTATTTTGGAG c.600
A I A S K P R E | V R E F N G Q H F I L E p.200
. . . . . . g.33004
GAAGCAATTACAGGGGATTTTGCTTTGGTGAAAGCCTGGAAGGCGGACCGAGCAGGAAAC c.660
E A I T G D F A L V K A W K A D R A G N p.220
. | 07 . . . . . g.35227
GTGATTTTCAG | GAAAAGTGCAAGGAATTTCAACTTGCCAATGTGCAAAGCTGCAGAAACC c.720
V I F R | K S A R N F N L P M C K A A E T p.240
. | 08 . . . . . g.68299
ACAGTGGTAGAG | GTTGAAGAAATTGTGGATATTGGAGCATTTGCTCCAGAAGACATCCAT c.780
T V V E | V E E I V D I G A F A P E D I H p.260
. . . . . . g.68359
ATTCCTCAGATTTATGTACATCGCCTTATAAAGGGAGAAAAATATGAGAAAAGAATTGAG c.840
I P Q I Y V H R L I K G E K Y E K R I E p.280
| 09 . . . . . . g.70068
| CGTTTATCAATCCGGAAAGAGGGAGATGGGGAAGCCAAATCTGCTAAACCTGGAGATGAC c.900
| R L S I R K E G D G E A K S A K P G D D p.300
. . . . . | 10 . g.72531
GTAAGGGAACGAATCATCAAGAGGGCCGCTCTTGAGTTTGAGGATGGCATGTATG | CTAAT c.960
V R E R I I K R A A L E F E D G M Y A | N p.320
. . . . . . g.72591
TTGGGCATAGGAATCCCTCTCCTGGCCAGCAATTTTATCAGCCCAAATATAACTGTTCAT c.1020
L G I G I P L L A S N F I S P N I T V H p.340
. . . | 11 . . . g.74649
CTTCAAAGTGAAAATGGAGTTCTGGGTTTG | GGTCCATATCCACGACAACATGAAGCTGAT c.1080
L Q S E N G V L G L | G P Y P R Q H E A D p.360
. | 12 . . . . g.80981
GCAGATCTCATCAATGCAG | GCAAGGAAACAGTTACTATTCTTCCAGGAGCCTCTTTTTTC c.1140
A D L I N A G | K E T V T I L P G A S F F p.380
. . . | 13 . . . g.81639
TCCAGCGATGAATCATTTGCAATGATTAGAGG | TGGACACGTCGATCTGACAATGCTAGGA c.1200
S S D E S F A M I R G | G H V D L T M L G p.400
. . . . | 14 . g.113501
GCGATGCAGGTTTCCAAATATGGTGACCTGGCTAACTGGATGATACCT | GGGAAGATGGTG c.1260
A M Q V S K Y G D L A N W M I P | G K M V p.420
. . . . . . g.113561
AAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACC c.1320
K G M G G A M D L V S S A K T K V V V T p.440
. | 15 . . . . g.126124
ATGGAGCATTCTGCAAAG | GGAAATGCACATAAAATCATGGAGAAATGTACATTACCATTG c.1380
M E H S A K | G N A H K I M E K C T L P L p.460
. . . | 16 . . g.136219
ACTGGAAAGCAATGTGTCAACCGCATTATTACTGAAAAG | GCTGTGTTTGATGTGGACAAG c.1440
T G K Q C V N R I I T E K | A V F D V D K p.480
. . . . . . g.136279
AAGAAAGGGTTGACTCTGATTGAGCTCTGGGAAGGCCTGACAGTGGATGACGTACAGAAG c.1500
K K G L T L I E L W E G L T V D D V Q K p.500
. . | 17 . . . . g.143958
AGTACTGGGTGTGATTTTGCA | GTTTCACCAAAACTCATGCCAATGCAGCAGATCGCAAAT c.1560
S T G C D F A | V S P K L M P M Q Q I A N p.520
g.143961
TGA c.1563
X p.520
. . . . . . g.144021
aatatggatatttgtaccaggctgcgtgtttttcattttaaacacacaagatttaattga c.*60
. . . . . . g.144081
aaggacatcaataatcataattgtgtatttaacaggtggttttttattagttttcttgtg c.*120
. . . . . . g.144141
tttcagactttatgcagccatataaactgttctctaggcatgctgtgacattttaataaa c.*180
. . . . . . g.144201
aagcaaaaggagcatttataattatctcatttgttaaggctgagaaggttgtttttataa c.*240
. . . . . . g.144261
taggtaattatattgaatgcattttcactgaatatggtatgtatgctaaattatatgaac c.*300
. . . . . . g.144321
ctttccccaagaagggccctagaaattgatgtggctttcctcttaaatattaattattag c.*360
. . . . . . g.144381
tcctgaaagaaagataacatatgtgatttttgtggttaggagagttgctgtcatgattgt c.*420
. . . . . . g.144441
tttttcttcagcctcctctgacttttcttttggggcttcagattttatgattacatcttg c.*480
. . . . . . g.144501
tccccctagaacatcccccttcctcccatactgcttttaaacagatgcccaagaaggcaa c.*540
. . . . . . g.144561
gcaggaatgcctcttgtgggggagggcagggagaaataactagttcaaaccaactatcta c.*600
. . . . . . g.144621
tctatgctttgcaaagactaaggcgtattataggaagagggctagaaacctaactgattc c.*660
. . . . . . g.144681
ttctcagttttctcattttaaaacagcccagtattcctttgtatcctcaagggtccttga c.*720
. . . . . . g.144741
gaatacttctgttattgagaccctgtgggctacttgtactgtacctcctctcaagccaag c.*780
. . . . . . g.144801
aagggctgtgggataatttaccatgaatccttagtagcaatgacagcagagttaaaaaat c.*840
. . . . . . g.144861
aaaaggtgttttactttcaggctcttgttttggttcagaggagattttaaatattgaatg c.*900
. . . . . . g.144921
acacttctacagaacaacggtttttcttctgccaaggctacttcctttaacgaagtgcct c.*960
. . . . . . g.144981
ttaattcagccttatccaactagggaaaataatgttggacaagtctaggatttgaagagt c.*1020
. . . . . . g.145041
cagtgaacttttagtgtcagggaataaacatggtgggtagattaggtttgaaaaaaactt c.*1080
. . . . . . g.145101
ccttagaggtatttattctcaatacctgacaggggcccatgggaatgacttcagaagcat c.*1140
. . . . . . g.145161
cccggataatagatgggtaaaaagtctaggcaccctgaagaacaggtgagacagctggcc c.*1200
. . . . . . g.145221
tctggacagaggtaggcatagtacagtacgatatatcattcctctggtcctaaatataca c.*1260
. . . . . . g.145281
aacttattcatgtttttaggtgatgatggtcattgaaactcacttcttttcaggtgtagc c.*1320
. . . . . . g.145341
tacaattgtgtaatgtacaatattagagaaaggacaggctttttatgagtaacacacacc c.*1380
. . . . . . g.145401
atatataaaacagcctttctggctgaccacatggttaaatgcataccttcccagtactgg c.*1440
. . . . . . g.145461
ggggaaaaaatgacccttcttagaatgtgcaagttccatgagagtaatatattgatatga c.*1500
. . . . . . g.145521
ttttgaaaagaattgttgatagttacatcttcaaacttatcattccagtatgcatcttta c.*1560
. . . . . . g.145581
agataatgtgattctaagtagatgactttatattcttgattaaagagtgctatacatgtt c.*1620
. . . . g.145625
aagaaatgcattaaggaatacaataaatattctaaagtgatgta c.*1664
(downstream sequence)
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