(used for variant description)
(last modified December 2, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_024665.4 in the TBL1XR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047195.1, covering TBL1XR1 transcript NM_024665.4.
(upstream sequence)
. . g.5021
ggggttataattgcctctcac c.-241
. . . . . . g.5081
cccccggaggggttattttgggggtggttggaggcggtggcggcggcggcgaggagggga c.-181
. . . . . . | 02 g.103720
atttccttgtgcctccattcccgggaggggggagcggcgttggaggccaccgtttccag | c c.-121
. . . . . . g.103780
atcaacaacagcaacttgtgattggcggtgaccggatattcagttgcacatccccacatc c.-61
. . | 03 . . . . g.137283
aatgcactgccaatg | ggttatatcctgtgttgtgacctcatggtttaagtgggaataaag c.-1
. . . . . | 04 g.148344
ATGAGTATAAGCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAG | GA c.60
M S I S S D E V N F L V Y R Y L Q E S G | p.20
. . . . . . g.148404
TTTTCTCATTCAGCATTTACCTTTGGTATAGAAAGCCATATCAGTCAGTCCAATATAAAT c.120
F S H S A F T F G I E S H I S Q S N I N p.40
. . . . . . g.148464
GGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTA c.180
G A L V P P A A L I S I I Q K G L Q Y V p.60
. . | 05 . . . . g.150570
GAAGCAGAAGTTAGTATTAATGAG | GATGGTACCTTGTTTGATGGTCGACCAATAGAGTCT c.240
E A E V S I N E | D G T L F D G R P I E S p.80
. . . . . . g.150630
CTGTCCCTGATAGATGCCGTAATGCCTGATGTAGTACAAACAAGACAACAAGCTTATAGA c.300
L S L I D A V M P D V V Q T R Q Q A Y R p.100
. . . . . . g.150690
GATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAA c.360
D K L A Q Q Q A A A A A A A A A A A S Q p.120
. . . . . . g.150750
CAAGGATCTGCAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACT c.420
Q G S A K N G E N T A N G E E N G A H T p.140
| 06. . . . . . g.151703
ATAGCAA | ATAATCATACTGATATGATGGAAGTGGATGGGGATGTTGAAATCCCTCCTAAT c.480
I A N | N H T D M M E V D G D V E I P P N p.160
. . . . . . g.151763
AAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTT c.540
K A V V L R G H E S E V F I C A W N P V p.180
. . | 07 . . . . g.152162
AGTGATCTCCTAGCATCAGG | GTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAG c.600
S D L L A S G | S G D S T A R I W N L S E p.200
. . . . . . g.152222
AACAGCACCAGTGGCTCTACACAGTTAGTACTTAGACATTGTATACGAGAAGGAGGGCAA c.660
N S T S G S T Q L V L R H C I R E G G Q p.220
. . . . | 08 . . g.154729
GATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAAT | AGTGAAGGTACACTTCTA c.720
D V P S N K D V T S L D W N | S E G T L L p.240
. . . . | 09 . . g.154877
GCAACTGGTTCCTATGATGGGTTTGCCAGAATATGGACTAAAGATG | GTAACCTTGCTAGC c.780
A T G S Y D G F A R I W T K D G | N L A S p.260
. . . . . . g.154937
ACCTTAGGGCAGCATAAAGGCCCTATATTTGCATTAAAATGGAATAAGAAAGGAAATTTC c.840
T L G Q H K G P I F A L K W N K K G N F p.280
. . | 10 . . . . g.156107
ATCCTAAGTGCTGGAGTAGACAAG | ACTACAATTATTTGGGACGCACATACTGGTGAAGCC c.900
I L S A G V D K | T T I I W D A H T G E A p.300
. . | 11 . . . . g.163861
AAGCAACAGTTTCCTTTTCATTCAG | CACCAGCATTGGATGTTGATTGGCAGAGCAACAAC c.960
K Q Q F P F H S A | P A L D V D W Q S N N p.320
. . . . . . g.163921
ACCTTTGCTTCTTGTAGTACAGATATGTGCATTCATGTCTGTAAATTAGGACAAGACAGA c.1020
T F A S C S T D M C I H V C K L G Q D R p.340
. . | 12. . . . g.164121
CCTATTAAAACATTCCAAGGACATACG | AATGAAGTAAATGCTATCAAATGGGACCCAACT c.1080
P I K T F Q G H T | N E V N A I K W D P T p.360
. . . . | 13 . . g.167953
GGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAG | ATATGGAGTATGAAACAA c.1140
G N L L A S C S D D M T L K | I W S M K Q p.380
. . . . . . g.168013
GACAATTGTGTCCATGATTTGCAAGCACATAATAAAGAAATTTATACTATCAAATGGAGT c.1200
D N C V H D L Q A H N K E I Y T I K W S p.400
. . . . . | 14 . g.169134
CCAACAGGACCAGGGACTAATAATCCAAATGCCAACCTTATGTTAGCAAG | TGCATCCTTT c.1260
P T G P G T N N P N A N L M L A S | A S F p.420
. . . . . . g.169194
GATTCTACTGTTAGGTTATGGGATGTAGACCGAGGGATATGCATCCATACCTTGACAAAA c.1320
D S T V R L W D V D R G I C I H T L T K p.440
. . . . . . g.169254
CACCAAGAGCCTGTGTACAGTGTAGCTTTCAGTCCTGATGGCAGGTATCTGGCAAGTGGT c.1380
H Q E P V Y S V A F S P D G R Y L A S G p.460
. . . | 15 . . . g.175810
TCTTTTGACAAATGTGTACACATCTGGAACACGCAG | ACAGGTGCTCTAGTTCACAGCTAT c.1440
S F D K C V H I W N T Q | T G A L V H S Y p.480
. . . . . . g.175870
AGGGGAACAGGTGGAATATTTGAAGTTTGCTGGAATGCAGCAGGAGACAAAGTTGGAGCC c.1500
R G T G G I F E V C W N A A G D K V G A p.500
. | 16 . . g.176778
AGTGCATCAGATGGTTCA | GTTTGTGTATTAGACCTTCGGAAATAG c.1545
S A S D G S | V C V L D L R K X p.514
. . . . . . g.176838
cgctactagttggaagccatggaccgactatgaatgtgtacatagccaaaatgactgtcc c.*60
. . . . . . g.176898
ctgacccatgtactgctatagtcccacttgaaccatggccagtccactacagccaaatct c.*120
. . . . . . g.176958
aaaagaaatatatacatacagtgtatataaacaaaattgcaccctgaagatgacagagtt c.*180
. . . . . . g.177018
ttgtcacagcttgtgaattctgttcaccaagtgctggaatctaatctgctgtgcccctaa c.*240
. . . . . . g.177078
aatagcatttagaagttttggatatgaaaaacagaagagagaaaaatatacattataaaa c.*300
. . . . . . g.177138
gcagaacatacatgtaccagtttttggatactaaatgacagccttgtttctcccctttga c.*360
. . . . . . g.177198
atcagcagacaccatggattatattctttttttcccttcagtagtgagcagtttgtatgt c.*420
. . . . . . g.177258
acagagaaaatggacttacaaaaacttgcagcagtagtttgttcttgctttaaaatttcg c.*480
. . . . . . g.177318
tttttggtttagattatggatgcatgaagtaagggagtgaatcagtttcttgtttatatt c.*540
. . . . . . g.177378
tttttcaccttttaaacaaaaaattctttaaaatattttaatgcattcttttgaagaggt c.*600
. . . . . . g.177438
agatgtttggtacattttatggctcccagagcatatattcagttggtgcatgttgtggaa c.*660
. . . . . . g.177498
gggggaattggaaattaaatgaaaacctatgactttggtcatgtcaatctgtaagacaca c.*720
. . . . . . g.177558
tcagtaaaagggtattatgctctgttggttttgtttttttgttttgcttttttttttttt c.*780
. . . . . . g.177618
ttttcttttttgttttttggtgatgtggcttaaatgcaatagtttcttttttgggacata c.*840
. . . . . . g.177678
tttctgccaattaaagactagaagggcacaactttttttttaattaccatagagaagata c.*900
. . . . . . g.177738
cattaaaaaaaatcttctgatgttttgtagccataactaaattatggtaaaaatgtgcac c.*960
. . . . . . g.177798
tattgtgaaaaggagcaacgtagttttgggttttttgttgtttgtttgttttgctttgtt c.*1020
. . . . . . g.177858
ttttaagagattaaaatgtttctggataaggattagcttctcgaagtgtccatcattctg c.*1080
. . . . . . g.177918
tgtagaagcttaaatatgtaatgtaaccaaactccagtattaaaaatctctcatgttgtt c.*1140
. . . . . . g.177978
ttctttatacaaagcaagataacggcatataacactgccattacatggcaaaatgtttgc c.*1200
. . . . . . g.178038
taccttagtttaaaaaacaatctcaaacaaaagacttgcttcaaggtgtttttaaatagc c.*1260
. . . . . . g.178098
agtgattcagaattttttttaatgaaagtataattgcactaaccttcttcctgctgctct c.*1320
. . . . . . g.178158
gattctgcatttgtggtacttgtgactacgttttttcaaatatagatagatttaagctgc c.*1380
. . . . . . g.178218
taatttttttttttttagtaatcactactatatcatgtcttttactctgtttataatatc c.*1440
. . . . . . g.178278
aagtattttcttaaagatatagatattaaaccttgtgctcatgcaacttagagtaacata c.*1500
. . . . . . g.178338
tacagacaaatgattgcatgaggccatgtttatatgtgtgactaataaggcttgtcatga c.*1560
. . . . . . g.178398
ttaacataatccaggtatgtcatttctgaagagaatagtcatcaaatttatatctcgaag c.*1620
. . . . . . g.178458
attttaattaaggaattgcttattgttgagcttagcaaattaataacactatttctgtca c.*1680
. . . . . . g.178518
ctaattattttgaggccttttagtactaaaattttaacctgtgttctaagtagaaactga c.*1740
. . . . . . g.178578
tttaacccaagtaatgcagctttgattgatttcagcattcgttgctttgctatttttaca c.*1800
. . . . . . g.178638
aaacagcattgattgaagcaagtcttggttttactaaggtagggtagcatttgctattgg c.*1860
. . . . . . g.178698
taaagagaataaatacacttaatttcacaatacattgttatatgtaccccagttgttgtt c.*1920
. . . . . . g.178758
agtggggactatgatactgtaataatatttttaaaaatttacatcaagagaggcagtcat c.*1980
. . . . . . g.178818
tcacgatggttttgtgccagctctttttagggttttggatcacattagagatatttagaa c.*2040
. . . . . . g.178878
catattaccctgtgacttacgtaggaaacctaatatgctgagtatctggcacttgaattc c.*2100
. . . . . . g.178938
ctgcttttattgctggaggtccacatctgtggttgacctctgttattgtttaaaaaaaat c.*2160
. . . . . . g.178998
aaataaaaattaaaaaaatctgtgcaataattttaaaatgtgctcccaggaatagacaca c.*2220
. . . . . . g.179058
aatgttttgagtatcttttaagctgcattttcctttagtgatgcatttgtcaattgcact c.*2280
. . . . . . g.179118
gaatttaaatctgaaagtcagaggtgattattgatagtacttttgtattttgatatggac c.*2340
. . . . . . g.179178
agtttattcatttgcatacagttattgactttttcccagctgattaaaagatagtcaaga c.*2400
. . . . . . g.179238
aattctgcaatatagctgccaaaatagacagctacatttttatgatattgtcatcttttc c.*2460
. . . . . . g.179298
tgttttttttttcttttttttctttagctattttacttaagcataatagccacaatagga c.*2520
. . . . . . g.179358
catataaaagattataaatacagagctttattatcctgacgtcttgggtcttttaagtat c.*2580
. . . . . . g.179418
atacttttctgaaaggtatccattttgtaggcttgggttcttcatgagcatacgattgtt c.*2640
. . . . . . g.179478
tatttttgctgctgttctcaacatcatcattgcctgctgatgtgccacgatgctgctcca c.*2700
. . . . . . g.179538
atagacagcaataagattgtctctaatttgagcagtaacatgattgcaagagaccaagtt c.*2760
. . . . . . g.179598
tcacagcttgtaaagttctgtatttgggattcttgcttatttttccgcctgtgtttttct c.*2820
. . . . . . g.179658
gagaacttattcctgatgatcaattgaatccagtagtttttctatgctatttgttgttgt c.*2880
. . . . . . g.179718
ataagctactgtaagaaacttatcataaggaaaaatagaaaggaaaacttgaatcaatac c.*2940
. . . . . . g.179778
tcattgattaaaatggaataaagaaagagcagctgccacttttaaacaacataaaggaat c.*3000
. . . . . . g.179838
atctttttttgtctccgtgtaggaaatcccataagttcttatatttgttccagttcccat c.*3060
. . . . . . g.179898
ttcctgccattgaccagataacatcattgactttcaaatgacttttagaagtgataactc c.*3120
. . . . . . g.179958
ttaatttcctaatagatactagattgtattgaattctgttttaattattctctaggtaag c.*3180
. . . . . . g.180018
tatgttttaggattaaataccttttacagatactgaaagtgcctccttttgtggtgtaaa c.*3240
. . . . . . g.180078
aaacaaattatggtgcaaaaagtaatcactagattgaaatacatgaaggttttttgcttt c.*3300
. . . . . . g.180138
ttgacatacgaaaatgtcaagagaaaggccaaagatttgtactttttcacttacaaagca c.*3360
. . . . . . g.180198
ctcctttttcccttaaacttctttctgtcaaattagatttaatgagagagtactattttt c.*3420
. . . . . . g.180258
aaggagctatctgtttatgtagaatgattttgttaagagtaatgtaaactattattgagt c.*3480
. . . . . . g.180318
agaggcctaaagaggactgtgcatttttgctatttaaaggaatcacaaatgatcatactt c.*3540
. . . . . . g.180378
aagtgagcaaaaatgacaagttttactagctaagtagagaaataaatctcaaatgcagcg c.*3600
. . . . . . g.180438
ctacaattttcattatcttaagtacattgtacatttctacagaacctgtgattattctcg c.*3660
. . . . . . g.180498
catgataaggatggtacttgcatatggtgaattactactgttgacagtttccgcagaaat c.*3720
. . . . . . g.180558
cctatttcagtggaccaacattgtggcatggcagcaaatgccaacattttgtggaatagc c.*3780
. . . . . . g.180618
agcaaatctacaagagaccctggttggtttttcgttttgttttctttgttttttccccct c.*3840
. . . . . . g.180678
tctcctgaatcagcagggatggaaggagggtagggaagttatgaattactccttccagta c.*3900
. . . . . . g.180738
gtagctctgaagtgtcacatttaatatcagttttttttaaacatgattctagttaaatgt c.*3960
. . . . . . g.180798
agaagagagaagaaagaggaagtgttcacttttttaatacactgatttagaaatttgatg c.*4020
. . . . . . g.180858
tcttatatcagtagttctgaggtattgatagcttgctttatttctgcctttacgttgaca c.*4080
. . . . . . g.180918
gtgttgaagcagggtgaataactagggcatatattttttttttttttgtaagctgtttca c.*4140
. . . . . . g.180978
tgatgttttctttggaatttccggataagttcaggaaaacattctgcatgttgtatctag c.*4200
. . . . . . g.181038
tctgatgtacttatccatctcattacaaacaaaaacacacagactgcatttgtagctctg c.*4260
. . . . . . g.181098
taatccttgaatacggaagtaaattttcttctttcctgactttgacattgtagctatact c.*4320
. . . . . . g.181158
gtttccatttttgtttttacaaatcctttgggtctaattctgtgagcctacctatagcac c.*4380
. . . . . . g.181218
tggattaaaatgtctgcatcatttctttagttatccagttaactttaaaactgttgtaaa c.*4440
. . . . . . g.181278
agtgtaaaccagcccatgacaggtttttgtacatgttaaagaacttcattgttcagtttt c.*4500
. . . . . . g.181338
catgattattgtgtaaggaagactgatgtagatgttctgtgctgtcctggaccatgttaa c.*4560
. . . . . . g.181398
ttacacttacgacgtattttagttccacatcacaatgatttgtccccagtgaccctttta c.*4620
. . . . . . g.181458
tcctttctaggcacatttcttgttgttgttgttgttgcagttcccctttgcattgtattg c.*4680
. . . . . . g.181518
ctttgacaactgtaatttgaatcagatctgaaagaggtccagaataaaatatattttgat c.*4740
g.181522
atta c.*4744
(downstream sequence)
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