(used for variant description)
(last modified October 31, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_152730.4 in the TBC1D32 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering TBC1D32 transcript NM_152730.4.
(upstream sequence)
g.5010
gcgcgtgc c.-61
. . . . . . g.5070
gcagtgcgcggcttttgctcggacctggagtaatgagagtggacgtttgattccaacagg c.-1
. . . . . . g.5130
ATGGCCCATTTCTCCAGCGAGGACCAGGCGATGCTGCAGGCGATGCTGAGGCGGTTGTTC c.60
M A H F S S E D Q A M L Q A M L R R L F p.20
. . . . . . g.5190
CAGAGCGTGAAGGAGAAAATCACGGGTGCCCCTTCCCTGGAGTGTGCCGAAGAGATTCTT c.120
Q S V K E K I T G A P S L E C A E E I L p.40
. . . | 02 . . . g.17731
TTACATCTGGAGGAAACTGATGAAAATTTTCACAA | CTATGAATTTGTGAAATACCTCAGG c.180
L H L E E T D E N F H N | Y E F V K Y L R p.60
. . . . . . g.17791
CAGCATATAGGCAACACTTTGGGTTCTATGATTGAAGAAGAAATGGAAAAATGCACATCT c.240
Q H I G N T L G S M I E E E M E K C T S p.80
. . . . . . g.17851
GATCGGAATCAGGGTGAAGAATGCGGCTATGATACAGTTGTACAGCAGGTCACTAAAAGA c.300
D R N Q G E E C G Y D T V V Q Q V T K R p.100
. | 03. . . . . g.21871
ACTCAAGAATCTAAAGA | GTACAAAGAAATGATGCATTACCTGAAGAACATTATGATAGCT c.360
T Q E S K E | Y K E M M H Y L K N I M I A p.120
. . . . . . g.21931
GTGGTCGAGTCTATGATTAACAAGTTTGAAGAAGATGAGACACGAAATCAAGAAAGGCAG c.420
V V E S M I N K F E E D E T R N Q E R Q p.140
. . . . . . g.21991
AAAAAAATCCAAAAGGAGAAAAGCCATAGTTACCGCACAGACAATTGCTCTGATAGTGAT c.480
K K I Q K E K S H S Y R T D N C S D S D p.160
. | 04 . . . . . g.28698
TCATCATTGAATCAG | AGTTACAAATTTTGTCAAGGAAAATTACAATTGATTTTAGACCAG c.540
S S L N Q | S Y K F C Q G K L Q L I L D Q p.180
. . | 05 . . . . g.31435
TTGGATCCTGGGCAACCTAAAGAG | GTGAGATATGAAGCCTTGCAAACATTATGTTCAGCT c.600
L D P G Q P K E | V R Y E A L Q T L C S A p.200
. . . . . . g.31495
CCTCCATCTGATGTCCTCAACTGTGAAAATTGGACTACTCTCTGCGAAAAACTGACCGTG c.660
P P S D V L N C E N W T T L C E K L T V p.220
. . . | 06 . . . g.34697
TCTCTTTCAGATCCTGATCCTGTGTTTAGT | GACCGGATTTTAAAATTCTGTGCACAGACA c.720
S L S D P D P V F S | D R I L K F C A Q T p.240
. . . . | 07 . g.34886
TTTTTGCTTTCTCCATTACATATGACCAAGGAAATTTATACAAGCTTAG | CTAAGTATTTG c.780
F L L S P L H M T K E I Y T S L A | K Y L p.260
. . . . . . g.34946
GAGTCATACTTTCTTTCTAGGGAAAATCATATTCCTACTCTTTCAGCTGGTGTAGATATA c.840
E S Y F L S R E N H I P T L S A G V D I p.280
. . . | 08 . . . g.35101
ACTAATCCTAATATGACTCGCTTACTTAAAAAG | GTTCGTCTTCTAAATGAATATCAGAAA c.900
T N P N M T R L L K K | V R L L N E Y Q K p.300
. . . | 09 . . . g.35764
GAAGCTCCATCTTTCTGGATTCGTCATCCAGAGAA | GTATATGGAAGAAATTGTGGAGAGT c.960
E A P S F W I R H P E K | Y M E E I V E S p.320
. . . . . . g.35824
ACTTTGTCCTTGTTAACAGTTAAACATAATCAAAGCCATGTTGTCTCACAAAAGATTTTG c.1020
T L S L L T V K H N Q S H V V S Q K I L p.340
. . . . . . g.35884
GATCCGATCTACTTTTTTGCATTAGTTGATACCAAGGCTGTGTGGTTCAAAAAGTGGATG c.1080
D P I Y F F A L V D T K A V W F K K W M p.360
| 10 . . . . . . g.40055
| CATGCACATTATAGCAGAACTACAGTATTAAGACTTCTTGAAACGAAATATAAGTCTCTG c.1140
| H A H Y S R T T V L R L L E T K Y K S L p.380
| 11 . . . . . . g.44900
| GTAACTACAGCCATTCAACAGTGTGTTCAGTACTTTGAAATGTGTAAGACTAGGAAAGCT c.1200
| V T T A I Q Q C V Q Y F E M C K T R K A p.400
. . . | 12 . . . g.47336
GATGAAACTTTGGGACATTCAAAGCATTGCA | GAAACAAGCAGAAAACTTTCTACTACTTA c.1260
D E T L G H S K H C R | N K Q K T F Y Y L p.420
. . . . . . g.47396
GGACAAGAATTACAATATATTTATTTCATTCACTCACTGTGCCTTTTAGGAAGATTATTG c.1320
G Q E L Q Y I Y F I H S L C L L G R L L p.440
. . . . . | 13 . g.55598
ATCTATAAACAAGGCAGAAAACTATTTCCTATTAAGCTGAAGAATAAAAAAG | GTTTGGTA c.1380
I Y K Q G R K L F P I K L K N K K G | L V p.460
. . . . . . g.55658
TCCCTCATAGATCTGCTTGTTCTTTTTACCCAACTTATCTATTACTCACCAAGTTGTCCA c.1440
S L I D L L V L F T Q L I Y Y S P S C P p.480
. . | 14 . . . . g.57849
AAGATGACATCAGCTGCCCATTCAG | AGAATTACTCTCCTGCAAGTATGGTGACTGAAGTT c.1500
K M T S A A H S E | N Y S P A S M V T E V p.500
. . . . . . g.57909
CTGTGGATACTCAGTGATCAAAAAGAATGTGCAGTGGAATGCTTATATAACAACATTGTA c.1560
L W I L S D Q K E C A V E C L Y N N I V p.520
. . . . | 15 . g.60267
ATAGAGACACTTCTTCAGCCTATTCACAATTTAATGAAAGGAAATGAG | GCATCTCCAAAT c.1620
I E T L L Q P I H N L M K G N E | A S P N p.540
. . . . . . g.60327
TGCTCTGAGACAGCTTTAATTCATATAGCTGGTATTTTGGCAAGAATTGCATCTGTAGAA c.1680
C S E T A L I H I A G I L A R I A S V E p.560
. . . . . | 16 . g.83222
GAAGGGCTTATTTTACTCCTTTATGGAGCAAATATGAACTCTTCTGAAGAAAG | TCCTACA c.1740
E G L I L L L Y G A N M N S S E E S | P T p.580
. . . . . . g.83282
GGTGCTCATATAATTGCCCAGTTTTCGAAAAAACTTCTCGATGAAGATATTTCTATATTT c.1800
G A H I I A Q F S K K L L D E D I S I F p.600
. . . . . . g.83342
TCTGGATCAGAAATGTTGCCTGTGGTTAAAGGAGCTTTTATTTCTGTGTGTCGTCACATA c.1860
S G S E M L P V V K G A F I S V C R H I p.620
. . . . . . g.83402
TATAGTACATGTGAAGGTTTGCAGGTGTTAATCACTTATAATTTGCATGAATCTATAGCA c.1920
Y S T C E G L Q V L I T Y N L H E S I A p.640
. | 17 . . . . . g.84135
AAGGCATGGAAAAAG | ACAAGTTTGCTATCAGAAAGAATTCCTACTCCAGTAGAGGGTTCT c.1980
K A W K K | T S L L S E R I P T P V E G S p.660
. . . | 18 . . g.97183
GATTCTGTTTCTTCAGTAAGCCAGGAATCCCAAAACAT | TATGGCTTGGGAAGATAATTTG c.2040
D S V S S V S Q E S Q N I | M A W E D N L p.680
. . . . . . g.97243
TTAGATGATTTACTACATTTTGCTGCCACCCCCAAAGGATTACTACTTCTTCAAAGAACA c.2100
L D D L L H F A A T P K G L L L L Q R T p.700
. . . . . | 19. g.97951
GGTGCTATCAATGAATGTGTGACATTTATATTCAATCGATATGCAAAAAAATTACAG | GTC c.2160
G A I N E C V T F I F N R Y A K K L Q | V p.720
. . . . . . g.98011
AGCAGGCATAAAAAATTTGGCTATGGAGTTTTGGTTACACGAGTGGCATCAACAGCAGCA c.2220
S R H K K F G Y G V L V T R V A S T A A p.740
. . | 20 . . . . g.100347
GGTGGCATTGCACTAAAAAAGTCAG | GGTTTATTAATGAACTTATAACTGAATTATGGTCC c.2280
G G I A L K K S G | F I N E L I T E L W S p.760
. . . . . . g.100407
AATCTGGAATATGGAAGAGATGATGTTAGGGTAACCCATCCCAGAACTACTCCAGTGGAT c.2340
N L E Y G R D D V R V T H P R T T P V D p.780
. . | 21 . . . . g.116184
CCTATTGACCGAAGCTGTCAAAAG | TCTTTTTTAGCACTGGTGAACTTGTTATCCTATCCT c.2400
P I D R S C Q K | S F L A L V N L L S Y P p.800
. . . . . . g.116244
GCTATTTATGAGCTTGTAAGGAATCAAGATCTTCCTAATAAAACAGAATATTCTCTTCGT c.2460
A I Y E L V R N Q D L P N K T E Y S L R p.820
. . | 22 . . . . g.134376
GAAGTCCCAACATGTGTTATT | GATATTATTGATAGACTTATAATTTTGAATTCTGAAGCT c.2520
E V P T C V I | D I I D R L I I L N S E A p.840
. . . . . | 23 . g.178454
AAGATTCGTTCTTTATTCAACTATGAACAATCACATATCTTTGGTCTAAG | GGACTTTATA c.2580
K I R S L F N Y E Q S H I F G L R | D F I p.860
. . . . . . g.178514
ATTGATGGCTTATCAGTGGAGAGAAATCATGTTCTTGTTAGAATAAATCTTGTTGGTGGG c.2640
I D G L S V E R N H V L V R I N L V G G p.880
. . . | 24 . . g.179418
CCATTGGAACGGATTTTGCCTCCGAGGTTACTCGAAAAG | AGTGATAATCCATATCCTTGG c.2700
P L E R I L P P R L L E K | S D N P Y P W p.900
. . . . . . g.179478
CCAATGTTTTCATCATATCCATTGCCAAACTGCTATCTGTCAGACATTACAAGAAATGCT c.2760
P M F S S Y P L P N C Y L S D I T R N A p.920
. | 25 . . . . . g.207795
GGTATAAAACAAG | ACAATGATCTTGACAAGCTTTTATTATGCCTCAAAATATCTGATAAA c.2820
G I K Q D | N D L D K L L L C L K I S D K p.940
. . . . . . g.207855
CAAACTGAATGGATAGAAAACTGCCAAAGACAATTTTGCAAAATGATGAAAGCCAAACCT c.2880
Q T E W I E N C Q R Q F C K M M K A K P p.960
. | 26 . . . . g.213080
GATATAATCAGTGGAGAGG | CCTTAATAGAATTACTTGAAAAATTTGTGCTTCATCTCACT c.2940
D I I S G E A | L I E L L E K F V L H L T p.980
. . . . | 27 . . g.224276
GAAAGCCCATCTGAATGCTACTTCCCTTCAGTGGAGTATACAG | CTACTGATGCAAATGTG c.3000
E S P S E C Y F P S V E Y T A | T D A N V p.1000
. . . . . | 28 . g.226330
AAGAATGAAAGTCTTTCATCTGTGCAGCAGCTTGGCATTAAAATGACTGTCAG | GTATGGC c.3060
K N E S L S S V Q Q L G I K M T V R | Y G p.1020
. . . . . . g.226390
AAATTCCTCAGTCTCTTAAAAGATGGTGCAGAAAATGATCTTACCTGGGTTTTAAAGCAT c.3120
K F L S L L K D G A E N D L T W V L K H p.1040
. . . . | 29 . g.226852
TGTGAGAGATTCCTGAAACAGCAGCAAACTTCCATAAAATCTTCTCTTC | TCTGCCTGCAA c.3180
C E R F L K Q Q Q T S I K S S L L | C L Q p.1060
. . . . . . g.226912
GGGAATTATGCTGGCCATGACTGGTTTGTATCTTCTCTGTTCATGATAATGTTGGGAGAC c.3240
G N Y A G H D W F V S S L F M I M L G D p.1080
. . . . . . g.226972
AAAGAAAAAACATTCCAATTTCTTCATCAATTCTCCAGGCTTCTGACTTCTGCTTTTCTT c.3300
K E K T F Q F L H Q F S R L L T S A F L p.1100
. . | 30 . . . . g.233373
TGGTTGCCAAGGCTACATATTTCT | AGTTACCTTCCTAATGACACTGTAGAATCTGGCATC c.3360
W L P R L H I S | S Y L P N D T V E S G I p.1120
. . . . . . g.233433
CATCCAGTATATTTTTGCAGCACCCATTATATTGAAATGCTACTGAAGGCTGAGTTGCCT c.3420
H P V Y F C S T H Y I E M L L K A E L P p.1140
. . . . | 31 . . g.248474
CTTGTGTTTTCAGCTTTTCACATGTCTGGTTTTGCACCATCACAG | ATTTGCCTGCAATGG c.3480
L V F S A F H M S G F A P S Q | I C L Q W p.1160
. . . . . . g.248534
ATAACCCAGTGTTTTTGGAATTACTTAGATTGGATAGAAATCTGCCATTATATTGCTACT c.3540
I T Q C F W N Y L D W I E I C H Y I A T p.1180
. . . . . . g.248594
TGTGTTTTCCTTGGTCCTGATTATCAAGTGTATATCTGTATAGCTGTATTCAAACATTTA c.3600
C V F L G P D Y Q V Y I C I A V F K H L p.1200
. . . . . | 32 . g.258616
CAGCAAGACATTCTACAGCACACTCAGACTCAAGATCTGCAAGTTTTCCTAAAA | GAAGAA c.3660
Q Q D I L Q H T Q T Q D L Q V F L K | E E p.1220
. . . . . . g.258676
GCACTGCATGGGTTTCGAGTGAGTGATTATTTTGAATACATGGAAATTTTGGAACAAAAC c.3720
A L H G F R V S D Y F E Y M E I L E Q N p.1240
. . . . . g.258730
TACCGAACAGTGCTGCTGAGAGACATGCGGAACATTAGACTGCAGAGCACATAG c.3774
Y R T V L L R D M R N I R L Q S T X p.1257
. . . . . . g.258790
atcatgagacacacggtttaaatttaggttttatttatttttaaacacagcaggggggct c.*60
. . . . . . g.258850
tgatgtttttctgtgtctgtaacaacatttactttgtgaatatacatattgtaaatactg c.*120
. . . . . . g.258910
agaagtataacgatatatttaagtaggtatgagctcaatttgtgaattcatttttgtaaa c.*180
. . . . . . g.258970
tttgttgttttgtaaggttattatagaatcagatctagcttacttttagttcttattcat c.*240
. . . . . . g.259030
gtttaagagttagtcctggccaggcgcggtggctcatgcctgtaatcccagcactttggg c.*300
. . . . . . g.259090
agtctgaggtgggcggatcacgaggtcaagagatcgagaccatcctggccaaaatggtga c.*360
. . . . . . g.259150
aacctcgtctctgctaacaatactgaaattagctgggtgcagtgatgcgcctgtagtccc c.*420
. . . . . . g.259210
tgctacttgggaggctgaggcaggagaatcgcttgaacccgggaggcggaggttgcagtg c.*480
. . . . . . g.259270
agccaagattgtgccactgtactccagccaggccacagagtgagactctgtctcaaaaaa c.*540
. . . . . . g.259330
aaaaaaaaaaaaaaagtcccaacttacatctcctttattcagatgatttaaatattgttt c.*600
. . . . . . g.259390
ccagtgaatttggaaaggagaagtaatagtgtaaataatattttgactagctgcagaaag c.*660
. . . . . . g.259450
cccataagacaaggaaaagacagtatttcttccattctttatgtctgtacatgtaaagga c.*720
. . . . . . g.259510
aaatggataaaactacagctgcttcttttacatgtggaagaacaatgatactatttacca c.*780
. . . . . . g.259570
tggcaagtggtaggaaaactgttgtccttggacataattgttttttaggagttgcttttg c.*840
. . . . . . g.259630
atacccatatcaatttataattctttgtttgaaatgaagtctttacatggttcattgaag c.*900
. . . . . . g.259690
agatagattggttatttcatactgataagcattctactcttatttgttatgcattttcct c.*960
. . . . . . g.259750
tagtgatatattttacttgtactgaacttgaaaatataaaggagaatacatttctaaatt c.*1020
. . . . . . g.259810
attttaaatggctaacactatgatttgtcttatttaaatagatgtctctgcaccggtaag c.*1080
. . . . . . g.259870
attaatacaatatgtgaatgtctattttttatatcttaactcacaatgagtatatgaaag c.*1140
. . . . . . g.259930
ataatacacgaatatattacattattcatttttagtcatgagtttatttcaataagtttt c.*1200
. . . . . . g.259990
tctaattgtagatactgttttttattctttccttgtatctaaatataaatcaaccattaa c.*1260
. . . g.260020
aatcattctaactctaaccctgcttttttt c.*1290
(downstream sequence)
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