(used for variant description)
(last modified May 27, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001199107.1 in the TBC1D24 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028170.1, covering TBC1D24 transcript NM_001199107.1.
(upstream sequence)
. . g.5020
gctgaggagaaagcggcgcg c.-121
. | 02 . . . . . g.25943
cggag | ggtgtgagatggcagacaggtttgcaggaaaccctcagaaagggggctggaggat c.-61
. . . . . . g.26003
ttagccactctgtcctccccttccggcagtccagggcctcctcccgagcacagcggcgct c.-1
. . . . . . g.26063
ATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAG c.60
M D S P G Y N C F V D K D K M D A A I Q p.20
. . . . . . g.26123
GACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGC c.120
D L G P K E L S C T E L Q E L K Q L A R p.40
. . . . . . g.26183
CAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGG c.180
Q G Y W A Q S H A L R G K V Y Q R L I R p.60
. . . . . . g.26243
GACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAG c.240
D I P C R T V T P D A S V Y S D I V G K p.80
. . . . . . g.26303
ATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAG c.300
I V G K H S S S C L P L P E F V D N T Q p.100
. . . . . . g.26363
GTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGC c.360
V P S Y C L N A R G E G A V R K I L L C p.120
. . . . . . g.26423
CTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTG c.420
L A N Q F P D I S F C P A L P A V V A L p.140
. . . . . . g.26483
CTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCC c.480
L L H Y S I D E A E C F E K A C R I L A p.160
. . . . . . g.26543
TGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGC c.540
C N D P G R R L I D Q S F L A F E S S C p.180
. . . . . . g.26603
ATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCC c.600
M T F G D L V N K Y C Q A A H K L M V A p.200
. . . . . . g.26663
GTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTG c.660
V S E D V L Q V Y A D W Q R W L F G E L p.220
. . . . . . g.26723
CCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTG c.720
P L C Y F A R V F D V F L V E G Y K V L p.240
. . . . . . g.26783
TACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTG c.780
Y R V A L A I L K F F H K V R A G Q P L p.260
. . . . . . g.26843
GAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTG c.840
E S D S V K Q D I R T F V R D I A K T V p.280
. . . . . . g.26903
TCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATC c.900
S P E K L L E K A F A I R L F S R K E I p.300
. . . . . . g.26963
CAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAG c.960
Q L L Q M A N E K A L K Q K G I T V K Q p.320
| 03 . . | 04 . . . . g.28129
AAGAG | TGTGTCACTTTCTAAAAG | GCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTC c.1020
K S | V S L S K R | Q F V H L A V H A E N F p.340
. . . . . . g.28189
CGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGC c.1080
R S E I V S V R E M R D I W S W V P E R p.360
. . . . . . g.28249
TTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCC c.1140
F A L C Q P L L L F S S L Q H G Y S L A p.380
| 05 . . . . . . g.29269
AG | GTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAG c.1200
R | F Y F Q C E G H E P T L L L I K T T Q p.400
| 06 . . . . . . g.29743
AAGGAG | GTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGC c.1260
K E | V C G A Y L S T D W S E R N K F G G p.420
. . . . | 07 . . g.30140
AAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGG | CTGCAGCCTGAGGTGCAG c.1320
K L G F F G T G E C F V F R | L Q P E V Q p.440
. . . . . . g.30200
CGCTACGAGTGGGTGGTGATCAAGCACCCCGAGCTGACCAAGCCCCCACCCTTGATGGCT c.1380
R Y E W V V I K H P E L T K P P P L M A p.460
. . . . . . g.30260
GCCGAGCCCACCGCCCCACTCAGCCACTCCGCCTCCTCAGACCCCGCTGACCGCCTCTCG c.1440
A E P T A P L S H S A S S D P A D R L S p.480
. . . . . . g.30320
CCCTTCCTGGCCGCTCGCCACTTCAACCTGCCCTCCAAGACCGAGTCCATGTTCATGGCG c.1500
P F L A A R H F N L P S K T E S M F M A p.500
. . | 08 . . . . g.30693
GGGGGCAGCGACTGCCTCATCGTCG | GGGGAGGAGGCGGCCAGGCGCTCTACATCGATGGG c.1560
G G S D C L I V G | G G G G Q A L Y I D G p.520
. . . . . . g.30753
GACCTGAACCGGGGCCGCACAAGCCACTGCGACACCTTCAACAACCAGCCCCTCTGCTCC c.1620
D L N R G R T S H C D T F N N Q P L C S p.540
. . . . . . g.30813
GAGAACTTCCTCATTGCTGCCGTGGAGGCCTGGGGCTTCCAGGACCCTGACACCCAGTGA c.1680
E N F L I A A V E A W G F Q D P D T Q X p.559
. . . . . . g.30873
cggcctgtgccacggtgactgagccgtggtggggcggtgggccgaggctgggctgccgcc c.*60
. . . . . . g.30933
tcgggcagcagagagcagatgaaacccccatgtggtaggcagggttgggggacggcagga c.*120
. . . . . . g.30993
ccccatggccaagcctggcgttgcctggacctgctgctgcctctacctggggtttgggct c.*180
. . . . . . g.31053
gggcttccccagtccacctgcatctgggtcagagctggagggcctgctgtgcccccagcc c.*240
. . . . . . g.31113
ccacccagagctggcataggaagtaccttcctcctccgtggaggcttccatagcccaagg c.*300
. . . . . . g.31173
ccttgggagtgtctgggtcttgctgcccctgagcctctctaggcagcctgagcccctggg c.*360
. . . . . . g.31233
gtgggagtacaacggcagtgggaacgtgcagctaagggtgggcctgtggtgccccctgct c.*420
. . . . . . g.31293
ggtgccgcatagcatcgcgccctcctgagcagggccctgcagcctggctggctggcgact c.*480
. . . . . . g.31353
gaatcccagcgtagatcccgagaacagactggcacccttgggcctgccccctggcggacc c.*540
. . . . . . g.31413
ccaccccctgtcctgggcgtttgccccagttccctccccaggcctcctgggccacctctc c.*600
. . . . . . g.31473
acattaacccttcttggctgcctctgaggctcccctgggctgcgtttgggagctgctggg c.*660
. . . . . . g.31533
tgggaggaggagggtgggatttgtgctgggctccacccccagggagggtgggagctggag c.*720
. . . . . . g.31593
ggggatgtcacatgtccttgtgtttctgcagagcctgaagcttttgctgggcctccctgc c.*780
. . . . . . g.31653
gtgttcccatctgaagaggtagccccgggagaggccctcagggaccgacccagaccagca c.*840
. . . . . . g.31713
agctccatttccaggggtctgcccagagaagcctggacccagggggcttctcagctcccc c.*900
. . . . . . g.31773
tcccttccagcccaggcctccttgagctcctgtagcctctgcagctgcccatttcacctc c.*960
. . . . . . g.31833
tttgtcattgcaatgacctggggcccagggtcacgcccaagcccctctttgtggcatgct c.*1020
. . . . . . g.31893
catctcagtgcagccccaactgcttctctgcaccaggccccgtgccctcccctggccctg c.*1080
. . . . . . g.31953
gccacacagcacctccttggccaccttgcatggatgcatgtcctccctctgtccctcttg c.*1140
. . . . . . g.32013
tggtgctgtggctggccacgtgtcagggttttctgtgagcctctcaccttacagcctttg c.*1200
. . . . . . g.32073
ggcccctgggcccctgccctgcctgagccctgcgctggccagacgcaggtaggtgccagg c.*1260
. . . . . . g.32133
ggaggccttgcctctgggcactatagggggcagccccctgccttgtgacctccctccatg c.*1320
. . . . . . g.32193
ccccatgacctccttcaactcgtcttgagggtctggtcaccacggaggggagaagggaga c.*1380
. . . . . . g.32253
cacagaggcccaagtggctgttctgggaccatggaagcctgggtcacagaggcaggtacc c.*1440
. . . . . . g.32313
agcagtcctgcccccacccccgtccctgctggcctccagccagtgccacttggagtcccc c.*1500
. . . . . . g.32373
tgcaccgtgccactttccatccccacaccattgcctgctcctcccatggggctttagcct c.*1560
. . . . . . g.32433
cccctgaccatctgctcatgtagcctctgactgggcgcacagtggtgcaggaggaaggac c.*1620
. . . . . . g.32493
cgggaaccctgtgtggctttgggcaagctgacaaacccgtctggaactcagtttccccag c.*1680
. . . . . . g.32553
ctgtgaaatggggccagtccccatgccctgctgtcctcctcacaggactgttgagaggct c.*1740
. . . . . . g.32613
cgcagggggatggggtgaatccctctcacggggagaggtatgggagggaagtcgccactc c.*1800
. . . . . . g.32673
atctcagcccaccgcagccctccaggcccccgcctgagcccctgaggccctcatctgtac c.*1860
. . . . . . g.32733
cgccagctttggtgttcattaaacatggtcttgctgcatcaactccagggctccaagctg c.*1920
. . . . . . g.32793
agtctgatctcttcagccagaggggcctccgggggcttcctgggcctacagccaagcagg c.*1980
. . . . . . g.32853
tgtgggaggctgcccgctgtagtgctcacccacattctatgactggaatgctgcaagcct c.*2040
. . . . . . g.32913
cttccagagggagccctccaggagcagggaagtcatatccgtggaccatttgtaggtttc c.*2100
. . . . . . g.32973
cctctgcaaacttcctgaactgggtggtgatttttctggcgagttaagtccagcaggttc c.*2160
. . . . . . g.33033
tgcgtggctgcccccagggggccccacccgggccttccagtgatctggaccaggaagacg c.*2220
. . . . . . g.33093
gattgctgctgggtcatgatttccacatcatgagcgaagttctttgttttttgtgtgcat c.*2280
. . . . . . g.33153
gcaaaatattgtttctttaaatttaatatcttttcctaacttttctactaacctagaagg c.*2340
. . . . . . g.33213
tatgtgtgattattatcttttttattcttatcactgtacttgttagtatctgatattagg c.*2400
. . . . . . g.33273
tattcccaaatagaacataatttattttgttaatgttctctatttcttcttgattattta c.*2460
. . . . . . g.33333
ttagctttggatgttaaaaattagccaaaagtggctgctctgcctatgaagtagccattc c.*2520
. . . . . . g.33393
tttgtttaaaaaaaaaaaaagccaacatttgttgaaactgcataataaattatcatttgt c.*2580
. . . . . . g.33453
ttttagaaacattcaaagaattattttttgattttttttttttttgggacagagtcaccc c.*2640
. . . . . . g.33513
aggctggagtgcagtggcatgatcttggctcactgcaacctccgcctcctgggttcaagc c.*2700
. . . . . . g.33573
gattctcctgcctcagcctcctgagtagctgggattacaggcatacgccaccacgcccag c.*2760
. . . . . . g.33633
ctaaattttttttgtatttttagtagaggcagggtttcactgtgttggtcaggctggtct c.*2820
. . . . . . g.33693
tgaactcctgacctcgtgatccacccccccctcagcctcccaaagtgctgggattacagg c.*2880
. . . . . . g.33753
cgtgagccaccgcgcctagcctattttttaatttttttgaatagaccactttgtgctgaa c.*2940
. . . . . . g.33813
taaatgtttaacatttatttttaaaacaacaattgcacctaatttaaaatagtttattaa c.*3000
. . . . . . g.33873
atgaattcattaaagcagattatatgcctttggggcttcagaaaatcagtttaagcaaaa c.*3060
. . . . . . g.33933
gaacttatgagagtaagtcatttgtacttgaattttttcagagttttaatgaactaaagt c.*3120
. . . . . . g.33993
attttaatttttctatttttgtaagccgcatacttcattttttgagtttttcagtggaat c.*3180
. . . . . . g.34053
ttgttttaaaacgttttgaagatttcagaggccttcatatttctcttatccactttctga c.*3240
. . . . . . g.34113
acccataaagcctttgcagtctccttgagtagtttatatttagtaatttagttgtgtacc c.*3300
. . . . . . g.34173
tttttattttgaagtaatttttgatttgcagaagagttgcagagacggtacagggtttcc c.*3360
. . . . . . g.34233
atgtaccctcaccttcccccaagtcaatatcaaaacaaagaaataagcattgttgcattg c.*3420
. . . . . . g.34293
ctgttaactaaaccacaggcctattgagattgtcccttttttttttttttttttttttga c.*3480
. . . . . . g.34353
gacagagtctcgctctgtcgcccaggctggagtgcagtggcgcgatctcggctcaccgca c.*3540
. . . . . . g.34413
agccccgcctcccggattcacgccattctcctgcctcagcctcctgagtagctgggacta c.*3600
. . . . . . g.34473
caggcacctgctaccacacccggctaatttttttatatttttagtagagatggggtttca c.*3660
. . . . . . g.34533
ccgtgttagccaggatggtcttgatctcctgacctcgtgatctgccctcctcggcctccc c.*3720
. . . . . . g.34593
aaagtgctgggattacaggcgtgagcaaccgcgcccagccgagattgccccgtttttttc c.*3780
. . . . . . g.34653
ccactgtccaggaatcgatttaatttttacagttgtttactttctcacatttttactaag c.*3840
. . . . . . g.34713
tccagaatatcatcaaactcacaaaaccactggtcaaaaaaacccaaatggccactaatt c.*3900
. . . . . . g.34773
aggcaatacagcacctgcctcaaatttgggttcatatagatttttttcctccctttttgt c.*3960
. . . . . . g.34833
ggagaacatagtcttgctgtgttgcccaggctagtcttgaactcctggactcaagcaatc c.*4020
. . . . . . g.34893
ctcccgcctctgcctccctaaattctgggattacaggcgtgagctgctgtgcccagctca c.*4080
. . . . . . g.34953
tccagattcttgctggttctctttctcagcctaaatgtcttgtttgcgtggagaaattat c.*4140
. . . . . . g.35013
caaatgaagcaggagtgccaaacaagcctcataggctcttcaccctacaacatctatgtt c.*4200
. . . . . . g.35073
aggtagaaaagtatgtggatttttaaaaatcatctggtataaagagtttttaagaactat c.*4260
. . . . . . g.35133
cttcatcatcttagtatcagattgtgcttgagaagttaggtacaatgtaatgtgattcat c.*4320
. . . . . . g.35193
tgctaaaaacaaaatgcctcccacaattgcagactcactcattttaccaaactatggaat c.*4380
. . . . . . g.35253
ttgtcaacaccttttcttgggaccaaggaagcaaagtcagtggataccgtgtcctgtaga c.*4440
. . . . . . g.35313
catgtcacttgtgataaggcacggacaacatgaactggcaaaaacattggcatttggtca c.*4500
. . . . . . g.35373
aatgcttatgagctaaggatagaagggaaaaaatagttgtgtgaatgattttacctctta c.*4560
. . . . . . g.35433
gttcttacgaaggatggttatcgggctggaaaaatgtttattggactgatgctttggagc c.*4620
. . . . . . g.35493
ctctcaatgaatgtaataaaaaaaatgtgtagtgagcacaaatgtatggatttgcagcac c.*4680
. . . . . . g.35553
aatccaactttgaaaatgtgaaaataagtgagttagtgatatgtttggttggtgttaatt c.*4740
. . . g.35588
tgagtcctaaataaaatcgagaactggtaaaagaa c.*4775
(downstream sequence)
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