(used for variant description)
(last modified November 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_005993.4 in the TBCD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011721.1, covering TBCD transcript NM_005993.4.
(upstream sequence)
. g.5010
ggccagcgtc c.-121
. . . . . . g.5070
ggttgccgccttagcgggcgcctccttttcatccctcatccttcatccctggctttcgcg c.-61
. . . . . . g.5130
ctctagcggagtgggatctgcgaacacgtgaggcgggggcgcggtccccaggctgccgag c.-1
. . . . . . g.5190
ATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGAGGACGAGACA c.60
M A L S D E P A A G G P E E E A E D E T p.20
. . . . . . g.5250
CTGGCCTTTGGCGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTG c.120
L A F G A A L E A F G E S A E T R A L L p.40
. . . . . . g.5310
GGCCGCCTGCGGGAGGTGCACGGCGGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTC c.180
G R L R E V H G G G A E R E V A L E R F p.60
| 02 . . . . . | 03 . g.16906
CGCG | TAATAATGGACAAATACCAGGAGCAGCCTCATCTGTTGGACCCGCACCTTG | AATGG c.240
R V | I M D K Y Q E Q P H L L D P H L E | W p.80
. . . . . . g.16966
ATGATGAACTTGTTGTTGGACATAGTGCAAGATCAGACATCTCCAGCTTCCCTTGTACAT c.300
M M N L L L D I V Q D Q T S P A S L V H p.100
. . . | 04 . . . g.19230
CTGGCTTTTAAATTTCTTTACATCATCACCAAG | GTTCGAGGCTATAAAACATTTCTTCGT c.360
L A F K F L Y I I T K | V R G Y K T F L R p.120
. . . . . . g.19290
TTATTTCCTCATGAAGTTGCCGATGTAGAGCCTGTTTTAGATTTGGTCACAATTCAGAAT c.420
L F P H E V A D V E P V L D L V T I Q N p.140
. | 05 . . . . . g.21401
CCCAAGGACCATGAA | GCTTGGGAAACCCGCTACATGCTTTTGCTCTGGCTCTCCGTGACC c.480
P K D H E | A W E T R Y M L L L W L S V T p.160
. . . . . . g.21461
TGCCTGATCCCTTTTGATTTTTCTCGCCTTGACGGGAACCTCCTCACCCAGCCTGGGCAA c.540
C L I P F D F S R L D G N L L T Q P G Q p.180
. . . . | 06 . . g.25406
GCACGAATGTCCATAATGGACCGTATTCTCCAAATAGCAGAG | TCCTACTTGATTGTCAGT c.600
A R M S I M D R I L Q I A E | S Y L I V S p.200
. . . | 07 . . g.34547
GACAAGGCCCGAGATGCAGCTGCTGTCCTTGTGTCCAG | ATTTATCACACGTCCTGATGTC c.660
D K A R D A A A V L V S R | F I T R P D V p.220
. . . . . . g.34607
AAGCAAAGCAAGATGGCTGAGTTCCTGGACTGGAGCCTGTGCAATCTGGCCCGTTCCTCC c.720
K Q S K M A E F L D W S L C N L A R S S p.240
. . . . . | 08 . g.50702
TTCCAGACCATGCAGGGGGTCATCACCATGGATGGGACGCTGCAGGCCCTG | GCACAAATA c.780
F Q T M Q G V I T M D G T L Q A L | A Q I p.260
. . . | 09. . . g.53823
TTTAAACATGGAAAACGTGAAGACTGTTTGCCCTATG | CTGCCACTGTCCTCAGGTGCCTC c.840
F K H G K R E D C L P Y A | A T V L R C L p.280
. . . . . . g.53883
GATGGCTGCAGACTCCCTGAGAGCAACCAGACCCTGCTGCGGAAGCTGGGGGTGAAGCTT c.900
D G C R L P E S N Q T L L R K L G V K L p.300
. . . . . | 10 . g.58821
GTGCAGCGACTGGGGCTGACATTCCTGAAGCCGAAGGTGGCAGCATGGAG | GTACCAGCGT c.960
V Q R L G L T F L K P K V A A W R | Y Q R p.320
. . . . . . g.58881
GGCTGCCGATCTTTGGCTGCAAATCTGCAGCTCCTCACTCAGGGTCAGAGTGAGCAGAAG c.1020
G C R S L A A N L Q L L T Q G Q S E Q K p.340
. . . . . . g.58941
CCACTCATCCTGACCGAAGATGACGACGAAGATGACGACGTCCCAGAGGGGGTGGAGCGT c.1080
P L I L T E D D D E D D D V P E G V E R p.360
| 11. . . . . . g.60597
GTGATAG | AGCAGCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGGTCTGCA c.1140
V I E | Q L L V G L K D K D T V V R W S A p.380
| 12 . . . . . g.62696
GCCAAGGG | CATCGGTAGGATGGCTGGCAGGCTTCCCAGAGCCCTGGCGGATGATGTGGTC c.1200
A K G | I G R M A G R L P R A L A D D V V p.400
. . | 13 . . . . g.67813
GGGTCTGTGCTGGACTGCTTCAG | TTTCCAGGAGACTGACAAGGCGTGGCATGGGGGATGT c.1260
G S V L D C F S | F Q E T D K A W H G G C p.420
. . . . . | 14 g.123162
CTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACTCGTGGATG | TT c.1320
L A L A E L G R R G L L L P S R L V D V | p.440
. . . . . . g.123222
GTCGCCGTGATCCTGAAGGCGCTGACCTACGACGAGAAGCGGGGTGCCTGCAGCGTGGGC c.1380
V A V I L K A L T Y D E K R G A C S V G p.460
. . . . . . g.123282
ACCAACGTCAGGGACGCCGCCTGCTACGTGTGCTGGGCCTTCGCGCGTGCCTATGAGCCT c.1440
T N V R D A A C Y V C W A F A R A Y E P p.480
. . . | 15 . . . g.137106
CAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAG | TGCACTGGTGATTGCTGCGGTGTTT c.1500
Q E L K P F V T A I S S | A L V I A A V F p.500
. . . | 16 . . . g.142631
GACCGAGACATAAACTGCAGAAGAGCAGCCTCT | GCCGCCTTCCAGGAGAATGTGGGGAGA c.1560
D R D I N C R R A A S | A A F Q E N V G R p.520
| 17 . . . . . . g.146540
CAG | GGCACTTTCCCTCATGGTATTGATATTTTGACCACAGCTGACTATTTTGCCGTCGGT c.1620
Q | G T F P H G I D I L T T A D Y F A V G p.540
. . | 18 . . . g.153618
AACAGATCCAACTGTTTCCTGGTTATAAG | TGTGTTTATTGCCGGCTTTCCTGAGTACACG c.1680
N R S N C F L V I S | V F I A G F P E Y T p.560
. . . . . | 19 . g.156351
CAGCCAATGATAGACCACCTGGTTACCATGAAGATCAGCCACTGGGATGG | GGTCATCCGA c.1740
Q P M I D H L V T M K I S H W D G | V I R p.580
. . . . . . g.156411
GAGTTGGCTGCGAGGGCGCTGCACAACCTGGCCCAGCAGGCACCCGAGTTCAGCGCCACG c.1800
E L A A R A L H N L A Q Q A P E F S A T p.600
| 20 . . . . . . g.158928
CAAG | TCTTCCCGAGGCTGCTGTCCATGACACTGAGTCCAGATCTTCACATGAGGCATGGG c.1860
Q V | F P R L L S M T L S P D L H M R H G p.620
. . . . . . g.158988
TCGATTCTCGCCTGCGCAGAAGTTGCTTACGCCTTGTACAAACTTGCAGCCCAAGAGAAC c.1920
S I L A C A E V A Y A L Y K L A A Q E N p.640
| 21 . . . . . . g.160755
AG | GCCCGTCACGGACCATCTGGACGAGCAGGCAGTGCAGGGCCTGAAGCAGATTCACCAG c.1980
R | P V T D H L D E Q A V Q G L K Q I H Q p.660
| 22 . . | 23 . . . | 24 g.173494
CAG | CTCTATGATCGTCAGTTATACAG | GGGTCTGGGAGGACAGCTCATGAGACAAGCAG | TG c.2040
Q | L Y D R Q L Y R | G L G G Q L M R Q A V | p.680
. . . . . . g.173554
TGTGTTTTAATAGAAAAGTTGTCACTTTCCAAAATGCCCTTTAGAGGTGACACCGTAATT c.2100
C V L I E K L S L S K M P F R G D T V I p.700
| 25 . . . . . . g.174496
G | ATGGTTGGCAATGGCTGATAAATGACACTTTGAGACATCTCCATCTCATCTCAAGTCAC c.2160
D | G W Q W L I N D T L R H L H L I S S H p.720
. | 26 . . . . g.176630
TCCCGCCAGCAGATGAAG | GATGCAGCAGTCTCGGCCCTGGCTGCTCTATGCAGTGAATAT c.2220
S R Q Q M K | D A A V S A L A A L C S E Y p.740
. . . . | 27 . . g.177895
TACATGAAGGAGCCGGGGGAGGCAGATCCCGCAATTCAGG | AGGAGCTGATCACGCAGTAC c.2280
Y M K E P G E A D P A I Q E | E L I T Q Y p.760
. . . . . . g.177955
CTGGCTGAGCTTCGGAACCCCGAGGAGATGACTCGCTGTGGCTTCTCGTTGGCCTTGGGC c.2340
L A E L R N P E E M T R C G F S L A L G p.780
. . . | 28 . . g.179357
GCCCTTCCAGGCTTCCTTCTGAAAGGCCGGCTCCAGCAG | GTTCTCACAGGTTTAAGAGCA c.2400
A L P G F L L K G R L Q Q | V L T G L R A p.800
. . . . . . g.179417
GTTACCCACACTTCCCCCGAGGACGTAAGTTTTGCTGAGTCCAGGAGAGACGGCTTGAAG c.2460
V T H T S P E D V S F A E S R R D G L K p.820
. | 29 . . . . . g.180171
GCCATTGCGAG | GATTTGCCAGACTGTTGGTGTGAAAGCAGGAGCCCCAGACGAAGCTGTG c.2520
A I A R | I C Q T V G V K A G A P D E A V p.840
. . . . . . g.180231
TGCGGAGAGAATGTTTCCCAGATTTACTGTGCGCTGCTGGGCTGCATGGACGACTACACC c.2580
C G E N V S Q I Y C A L L G C M D D Y T p.860
. . | 30 . . . g.180872
ACGGACAGCAGAGGGGACGTGGGCACCTG | GGTCCGCAAGGCCGCCATGACCAGTCTGATG c.2640
T D S R G D V G T W | V R K A A M T S L M p.880
. . . . . | 31 . g.182056
GATCTGACACTTCTGCTGGCTCGGAGCCAGCCTGAGCTGATCGAGGCCCATAC | CTGTGAG c.2700
D L T L L L A R S Q P E L I E A H T | C E p.900
. . . . . . g.182116
CGCATCATGTGCTGTGTGGCCCAGCAGGCCAGTGAGAAGATTGACCGTTTCCGTGCTCAC c.2760
R I M C C V A Q Q A S E K I D R F R A H p.920
. . . . . . g.182176
GCCGCCAGCGTGTTCCTGACGCTCCTGCACTTTGACAGCCCTCCCATCCCCCACGTGCCC c.2820
A A S V F L T L L H F D S P P I P H V P p.940
. . . | 32 . . . g.182326
CACCGAGGAGAACTGGAAAAGCTGTTTCCCAG | GTCCGATGTGGCCTCCGTGAACTGGAGT c.2880
H R G E L E K L F P R | S D V A S V N W S p.960
. . . . . . g.182386
GCACCTTCCCAGGCCTTCCCACGCATCACCCAGCTCCTTGGGCTGCCCACCTACCGCTAC c.2940
A P S Q A F P R I T Q L L G L P T Y R Y p.980
. . . . . | 33 . g.183467
CACGTCCTGCTGGGGCTAGTCGTGTCCCTGGGCGGCTTGACGGAGTCGACG | ATCCGGCAC c.3000
H V L L G L V V S L G G L T E S T | I R H p.1000
. . . . . . g.183527
TCCACCCAGAGCCTCTTTGAGTACATGAAGGGCATTCAGAGCGACCCGCAGGCCCTGGGC c.3060
S T Q S L F E Y M K G I Q S D P Q A L G p.1020
. . . . . | 34 . g.185601
AGCTTCAGCGGGACCCTTCTGCAGATCTTTGAGGACAACCTTCTGAATGAGAG | GGTGTCC c.3120
S F S G T L L Q I F E D N L L N E R | V S p.1040
. . . . . . g.185661
GTGCCGCTGCTGAAGACGCTGGACCACGTGCTCACCCACGGCTGCTTCGACATCTTCACC c.3180
V P L L K T L D H V L T H G C F D I F T p.1060
. | 35 . . . . . g.190256
ACGGAGGAGGA | CCACCCCTTTGCTGTGAAGTTGCTTGCGCTCTGTAAGAAAGAAATCAAG c.3240
T E E D | H P F A V K L L A L C K K E I K p.1080
. . . . | 36 . . g.191004
AATTCAAAAGATATCCAGAAGCTCCTGTCAGGCATCGCAGT | GTTCTGCGAGATGGTGCAG c.3300
N S K D I Q K L L S G I A V | F C E M V Q p.1100
. . . . . . g.191064
TTCCCCGGCGACGTGAGGAGGCAGGCCCTCCTGCAGCTGTGTCTGCTCCTCTGCCACCGT c.3360
F P G D V R R Q A L L Q L C L L L C H R p.1120
| 37 . . . . . g.192354
TTCCCGCTG | ATCCGGAAGACCACGGCCAGCCAGGTGTACGAGACATTGCTCACCTACAGT c.3420
F P L | I R K T T A S Q V Y E T L L T Y S p.1140
. . . . . | 38 g.194336
GACGTCGTGGGCGCGGATGTGCTGGACGAGGTGGTGACTGTGCTCAGTGACACTGCGTG | G c.3480
D V V G A D V L D E V V T V L S D T A W | p.1160
. . . . . . g.194396
GACGCGGAGCTTGCAGTGGTGAGAGAGCAGCGCAACCGTCTGTGTGACCTTCTGGGCGTA c.3540
D A E L A V V R E Q R N R L C D L L G V p.1180
. . | 39 . g.195421
CCCAGGCCCCAGCTGGTGCCCCAG | CCTGGTGCCTGCTGA c.3579
P R P Q L V P Q | P G A C X p.1192
. . . . . . g.195481
agccagtcctggagcccatacctcacccctgcctggtgaggatgtcttgttcctgaggga c.*60
. . . . . . g.195541
ggccggtgtggaaagcctcgcacagtggtgcctccagctgttgaagggtagcgctggccc c.*120
. . . . . . g.195601
ttggaggctggcactagctgacagcttttcctctctgcacctgcgctctggtgacttggg c.*180
. . . . . . g.195661
gtggacgcctctgccttcacttgaacacaaatgtgcttcctataaaatcatgtaccaaga c.*240
. . . . . . g.195721
agttcctgccttttgtctctgagcctgatgtgtgtaggggtgatggaaaggctcactgcc c.*300
. . . . . . g.195781
caggggtcagccagaggggaggtgggctgcactcctcctgcctggagaccaggccccctt c.*360
. . . . . . g.195841
cttgcctggtgctgtccctgctgtgggagacgtctggccacaggcagtgccccacccagt c.*420
. . . . . . g.195901
cttggagagagatgaatgttaaatcagaggttcaaatgctagagaactgagaagccctgg c.*480
. . . . . . g.195961
tggcaggcatggtctggagtgctgggcagatgctgtttctgggcccgtctgcctggtggg c.*540
. . . . . . g.196021
ggtgctgtcctcccccctgtgcacacgtgagcatcgtgcatgtggcccctctgcagtgca c.*600
. . . . . . g.196081
ggagtcactgattgatgggtgtgccgaccagcagcttcacaaatgtctgctgcaagggga c.*660
. . . . . . g.196141
atcgtcagagtccaatgtgtgcctctacagtaatgtcggaaataaataccattcttgaaa c.*720
g.196144
taa c.*723
(downstream sequence)
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