(used for variant description)
(last modified September 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001199198.2 in the TBC1D23 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering TBC1D23 transcript NM_001199198.2.
(upstream sequence)
. . g.5022
aagtctcctcccccaagacgct c.-181
. . . . . . g.5082
gcctttcggcctcgggacgccgtgacgttgcgttcctccagtcccttgccacctccctct c.-121
. . . . . . g.5142
ttcttcccctctggggaagctcagtgctggacttccgaagaccttttacgacattgagtc c.-61
. . . . . . g.5202
tcggagttggtctcagcgccggatccacttttcggcaaagtgacgtggacgtcaacagca c.-1
. . . . . | 02 . g.23839
ATGGCGGAAGGAGAAGATGTGCCGCCGCTGCCAACGTCGAGCGGCGACGGCTG | GGAAAAA c.60
M A E G E D V P P L P T S S G D G W | E K p.20
. . . . . . g.23899
GATCTTGAAGAAGCTCTGGAAGCAGGAGGTTGTGATCTTGAAACGTTGAGAAATATAATT c.120
D L E E A L E A G G C D L E T L R N I I p.40
. . . . | 03 . . g.25940
CAAGGAAGACCGCTGCCTGCTGATCTGAGGGCCAAAGTTTGGAAG | ATTGCTCTGAATGTT c.180
Q G R P L P A D L R A K V W K | I A L N V p.60
. . . . . . g.26000
GCAGGAAAAGGTGATAGTTTGGCATCATGGGATGGTATTTTAGACTTGCCAGAACAGAAC c.240
A G K G D S L A S W D G I L D L P E Q N p.80
. . . | 04 . . . g.27819
ACTATTCACAAAGATTGCCTGCAGTTTATTG | ACCAGCTTTCAGTGCCAGAGGAGAAGGCA c.300
T I H K D C L Q F I D | Q L S V P E E K A p.100
. . . . . . g.27879
GCAGAATTACTTTTGGATATTGAATCTGTAATTACCTTTTATTGTAAATCACGTAACATT c.360
A E L L L D I E S V I T F Y C K S R N I p.120
. . . . . . g.27939
AAATATAGCACATCCCTTAGCTGGATACATCTACTGAAACCATTGGTGCATCTTCAACTG c.420
K Y S T S L S W I H L L K P L V H L Q L p.140
. . . . . | 05 . g.34765
CCACGCAGCGATTTATACAACTGCTTTTATGCCATAATGAATAAGTACATTCCCAG | GGAT c.480
P R S D L Y N C F Y A I M N K Y I P R | D p.160
. . . . . . g.34825
TGTTCCCAGAAAGGGAGACCATTTCATCTCTTCAGGTTGCTCATCCAATACCATGAGCCT c.540
C S Q K G R P F H L F R L L I Q Y H E P p.180
. . . . . . g.34885
GAGCTTTGTTCTTATCTTGATACAAAGAAAATTACTCCAGACTCCTATGCACTCAACTGG c.600
E L C S Y L D T K K I T P D S Y A L N W p.200
| 06 . . . . . . g.39330
| CTTGGAAGTCTTTTTGCATGTTACTGTTCCACTGAAGTCACTCAGGCAATATGGGATGGA c.660
| L G S L F A C Y C S T E V T Q A I W D G p.220
. . . . . . g.39390
TATCTACAACAAGCAGATCCATTTTTTATTTATTTCTTAATGTTAATTATCCTTGTTAAT c.720
Y L Q Q A D P F F I Y F L M L I I L V N p.240
| 07 . . . . . | 08 . g.40363
GCAAA | AGAAGTTATTTTAACACAAGAGTCAGACAGCAAAGAAGAAGTTATCA | AGTTCTTG c.780
A K | E V I L T Q E S D S K E E V I K | F L p.260
. . . . . . g.40423
GAAAATACTCCATCCAGTCTGAATATAGAAGATATAGAAGACCTTTTCTCTCTGGCTCAG c.840
E N T P S S L N I E D I E D L F S L A Q p.280
. . . | 09 . . . g.42130
TATTATTGCAGCAAAACACCGGCTTCTTTTAGGAAG | GATAATCACCATCTCTTTGGTAGT c.900
Y Y C S K T P A S F R K | D N H H L F G S p.300
. . . . . . g.42190
ACTTTGTTGGGAATTAAGGATGATGATGCAGATCTGAGTCAGGCTCTTTGTCTGGCCATC c.960
T L L G I K D D D A D L S Q A L C L A I p.320
. . . | 10 . . g.43443
TCCGTGTCAGAGATCCTTCAAGCGAATCAGCTACAAGGG | GAAGGAGTCCGGTTCTTTGTG c.1020
S V S E I L Q A N Q L Q G | E G V R F F V p.340
. . . . . . g.43503
GTGGATTGCCGTCCTGCAGAACAATATAATGCTGGGCATTTATCAACTGCTTTCCACTTA c.1080
V D C R P A E Q Y N A G H L S T A F H L p.360
. | 11 . . . . . g.46298
GATTCAGACCTG | ATGCTTCAGAATCCATCTGAGTTTGCACAGTCAGTAAAATCCTTGCTG c.1140
D S D L | M L Q N P S E F A Q S V K S L L p.380
. . . . . . g.46358
GAAGCACAGAAGCAGTCCATTGAGTCTGGCTCCATAGCTGGTGGGGAGCACCTCTGTTTT c.1200
E A Q K Q S I E S G S I A G G E H L C F p.400
. . . . . . g.46418
ATGGGCAGTGGCAGGGAGGAAGAAGACATGTATATGAACATGGTCCTGGCACACTTTTTA c.1260
M G S G R E E E D M Y M N M V L A H F L p.420
| 12 . . . . | 13 . . g.50634
CAG | AAAAACAAAGAATATGTGAGTATTGCCAGTGGAGGATTTATGG | CACTGCAGCAGCAC c.1320
Q | K N K E Y V S I A S G G F M A | L Q Q H p.440
. . . . . . g.50694
CTGGCAGACATTAATGTGGATGGACCAGAAAATGGATATGGCCATTGGATTGCTAGTACC c.1380
L A D I N V D G P E N G Y G H W I A S T p.460
. . . | 14 . . . g.54613
TCAGGCTCAAGGAGCAGTATCAATTCTGTTGAT | GGTGAATCTCCTAATGGCTCAAGTGAT c.1440
S G S R S S I N S V D | G E S P N G S S D p.480
. . . . . . g.54673
AGAGGAATGAAATCACTAGTAAATAAAATGACTGTGGCTTTGAAGACAAAATCCGTTAAT c.1500
R G M K S L V N K M T V A L K T K S V N p.500
. . . . . | 15 . g.56023
GTCAGGGAAAAAGTTATCAGTTTTATAGAGAATACATCAACTCCTGTGGATCG | AATGTCT c.1560
V R E K V I S F I E N T S T P V D R | M S p.520
. . . | 16 . . g.60304
TTCAATCTTCCTTGGCCAGACAGATCATGTACAGAGCG | GCATGTGAGCAGCAGTGACAGA c.1620
F N L P W P D R S C T E R | H V S S S D R p.540
. . . . . . g.60364
GTGGGCAAGCCTTACCGTGGCGTAAAGCCTGTTTTCAGCATTGGGGATGAAGAAGAATAC c.1680
V G K P Y R G V K P V F S I G D E E E Y p.560
| 17. . . . . . g.63305
GACACAG | ATGAAATTGACAGTTCTTCAATGTCAGATGATGATAGAAAAGAGGTTGTAAAC c.1740
D T D | E I D S S S M S D D D R K E V V N p.580
. . . . . . g.63365
ATTCAGACTTGGATAAACAAACCAGATGTCAAACATCATTTTCCTTGTAAAGAAGTAAAA c.1800
I Q T W I N K P D V K H H F P C K E V K p.600
. . | 18 . . . . g.64997
GAAAGTGGACACATGTTTCCCAG | TCATCTGTTGGTTACTGCAACACATATGTACTGTTTA c.1860
E S G H M F P S | H L L V T A T H M Y C L p.620
. . . . . . g.65057
AGGGAGATTGTTTCACGGAAAGGATTGGCTTATATACAGTCTCGACAAGCGCTGAATTCT c.1920
R E I V S R K G L A Y I Q S R Q A L N S p.640
. . . . . . g.65117
GTAGTTAAAATTACATCCAAAAAAAAACATCCTGAACTCATTACCTTCAAGTATGGAAAT c.1980
V V K I T S K K K H P E L I T F K Y G N p.660
. . . | 19 . . g.67792
AGCAGTGCTTCAGGAATAGAAATCTTGGCAATCGAAAG | GTATTTGATTCCAAATGCAGGG c.2040
S S A S G I E I L A I E R | Y L I P N A G p.680
. . . . . . g.67852
GATGCAACTAAAGCCATAAAACAGCAGATCATGAAAGTTTTGGATGCTTTGGAAAGTTAA c.2100
D A T K A I K Q Q I M K V L D A L E S X p.699
. . . . . . g.67912
tataaaagaaaattatataaaaagaaattaagacaaccaagagaaacatggacatatacc c.*60
. . . . . . g.67972
tcctgactgaatactaactggagacctttcatttgctcatggggctgcttaaatagcagg c.*120
. . . . . . g.68032
tctaagaaagtgtaaattattataatcaatctgtggacagtaaactttttaaaaattttt c.*180
. . . . . . g.68092
cttctgcattttggttttataaaatgatgtattataaaggtcagttattaaattactttg c.*240
. . . . . . g.68152
aagtaactgaccctgtgcccttatggactaagtaagggtacagaatgcagttctgttttg c.*300
. . . . . . g.68212
aagagctgttttaagggaacatgcatcactttcgggatcaaaaacaactgtacacataca c.*360
. . . . . . g.68272
tatctgcagtgtcttcactgaaaattagagatagaattagttgaagagacttccttaatt c.*420
. . . . . . g.68332
gctacattgttttactcactgagcaatatcagaaactaaaacatagattaataattcact c.*480
. . . . . . g.68392
cactgtttctattcttcttaaaaagagtgaaatctttttaatggaatggttgaagattcc c.*540
. . . . . . g.68452
tgccaactcaaaatacagtacagctagtaaaatgttgaaacatcagtttctaaatcacct c.*600
. . . . . . g.68512
ttgctccattagctaattttttggacactaaatgcttcaaagataagaaacttcatccta c.*660
. . . . . . g.68572
atgatttctaaagagcagttaaaagcattaaaataagtaggtaggctgttaagattaaaa c.*720
. . . . . . g.68632
ttaacattttggggacagaattgtgtctgtaaaaatgtcattggttttattacaagcgga c.*780
. . . . . . g.68692
ttattttattcatattttaaaacaaatgtttaagccacattgatttatcctcattgagga c.*840
. . . . . . g.68752
ttatggtctgtgaccacagtaatatccacttatataaatgccaaataatcagagagctta c.*900
. . . . . . g.68812
taaagtacaattgtttttgtcatcattttctgaatttctttctcttcttttggttttgtc c.*960
. . . . . . g.68872
ctctcattgaagttccagtggtttgaaattagttttggacacattgtcttaatgtactga c.*1020
. . . . . . g.68932
aaattgctctgctgtattttgcagcgttcttcatttaatttataatggtccatattagac c.*1080
. . . . . . g.68992
acatttggtaagagaagtccaggaacacatttagggccatggaatagtattttgtaaaat c.*1140
. . . . . . g.69052
ccatttgggaagttgcaatacccacaatctgacatgtcctaaaatgtaagggattatctc c.*1200
. . . . . . g.69112
taaggggttgatgggagaaatatttagatgtaccctgttaacagccagtcattttgattt c.*1260
. . . . . . g.69172
acttatggaaatcaagtgaataaaaggcaacataatttgggaaattttattctaatatct c.*1320
. . . . . . g.69232
aataaaaacagtttgagtggttgaagacatctgcatgaaattgcacctaggtgcattact c.*1380
. . . . . . g.69292
tgatataactctcccctaaaactgttgtaattgcattttttcccttttcttggcacccct c.*1440
. . . . . . g.69352
ttagaaatgtactgaagtctcatttttcacccatttcagccatgggacatttttcataat c.*1500
. . . . . . g.69412
attaatgtaaagatgtttgtgttactgtttataaattacaattgtaaataaattactagt c.*1560
. . g.69436
ttgcccaaaactttgttcttaaag c.*1584
(downstream sequence)
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