(used for variant description)
(last modified September 16, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_007267.6 in the TMC6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007879.1, covering TMC6 transcript NM_007267.6.
(upstream sequence)
. . g.5021
aggaagcggaggaaggtgaag c.-121
. . . . . | 02 . g.10515
taggaccgaattcctgtgccgaagaggcctgcagtgggagagcagg | atgggggctccgga c.-61
. . . . . . g.10575
ggtggcgcccaggctctgagctaccctaggtctgcagactagcgggcattggccagagac c.-1
. . . . . | 03 . g.10763
ATGGCCCAGCCACTGGCCTTCATCCTCGATGTCCCTGAGACCCCAGGGGACCAGGG | CCAG c.60
M A Q P L A F I L D V P E T P G D Q G | Q p.20
. . . . . . g.10823
GGCCCCAGCCCCTATGATGAAAGCGAAGTGCACGACTCCTTCCAGCAGCTCATCCAGGAG c.120
G P S P Y D E S E V H D S F Q Q L I Q E p.40
. . . . . . g.10883
CAGAGCCAGTGCACGGCCCAGGAGGGGCTGGAGCTGCAGCAGAGAGAGCGGGAGGTGACA c.180
Q S Q C T A Q E G L E L Q Q R E R E V T p.60
| 04 . . . . . . g.11100
G | GAAGTAGCCAGCAGACACTCTGGCGGCCCGAGGGCACCCAGAGCACGGCCACACTCCGC c.240
G | S S Q Q T L W R P E G T Q S T A T L R p.80
. . . | 05 . . . g.11552
ATCCTGGCCAGCATGCCCAGCCGCACCATTG | GCCGCAGCCGAGGTGCCATCATCTCCCAG c.300
I L A S M P S R T I G | R S R G A I I S Q p.100
. . . . . . g.11612
TACTACAACCGCACGGTGCAGCTTCGGTGCAGGAGCAGCCGGCCCCTGCTCGGGAACTTT c.360
Y Y N R T V Q L R C R S S R P L L G N F p.120
. . . . . . g.11672
GTCCGCTCCGCCTGGCCCAGCCTCCGCCTGTACGACCTGGAGCTGGACCCCACGGCCCTG c.420
V R S A W P S L R L Y D L E L D P T A L p.140
. | 06 . . . . . g.12194
GAGGAGGAGG | AGAAGCAGAGCCTCCTGGTGAAGGAGCTCCAGAGCCTGGCAGTGGCACAG c.480
E E E E | K Q S L L V K E L Q S L A V A Q p.160
. . . . . | 07 . g.12426
CGGGACCACATGCTTCGCGGGATGCCCTTAAGCCTGGCTGAGAAACGCAGCCTGCG | AGAG c.540
R D H M L R G M P L S L A E K R S L R | E p.180
. . . . . . g.12486
AAGAGCAGGACCCCGAGGGGGAAGTGGAGGGGCCAGCCGGGCAGCGGCGGGGTCTGCTCC c.600
K S R T P R G K W R G Q P G S G G V C S p.200
. . . | 08 . . . g.12653
TGCTGTGGCCGGCTCAGATATGCCTGCGTGCTG | GCCTTGCACAGCCTGGGCCTGGCGCTG c.660
C C G R L R Y A C V L | A L H S L G L A L p.220
. . . . . . g.12713
CTCTCCGCCCTGCAGGCCCTGATGCCGTGGCGCTACGCCCTGAAGCGCATCGGGGGCCAG c.720
L S A L Q A L M P W R Y A L K R I G G Q p.240
. . . . . . g.12773
TTCGGCTCCAGCGTGCTCTCCTACTTCCTCTTTCTCAAGACCCTGCTGGCTTTCAATGCC c.780
F G S S V L S Y F L F L K T L L A F N A p.260
. . . . . . g.12833
CTCCTGCTGCTGCTGCTGGTGGCCTTCATCATGGGCCCTCAGGTCGCCTTCCCACCCGCC c.840
L L L L L L V A F I M G P Q V A F P P A p.280
. . . . . | 09 . g.13237
CTGCCGGGCCCTGCCCCCGTCTGCACAGGCCTGGAGCTCCTCACAGGCGCG | GGTTGCTTC c.900
L P G P A P V C T G L E L L T G A | G C F p.300
. . . . . . g.13297
ACCCACACCGTCATGTACTACGGCCACTACAGTAACGCCACGCTGAACCAGCCGTGTGGC c.960
T H T V M Y Y G H Y S N A T L N Q P C G p.320
. . . . . . g.13357
AGCCCCCTGGATGGCAGCCAGTGCACACCCAGGGTGGGTGGCCTGCCCTACAACATGCCC c.1020
S P L D G S Q C T P R V G G L P Y N M P p.340
. . . . . . g.13417
CTGGCCTACCTCTCCACTGTGGGCGTGAGCTTCTTTATCACCTGCATCACCCTGGTGTAC c.1080
L A Y L S T V G V S F F I T C I T L V Y p.360
| 10 . . . . . . g.14716
AG | CATGGCTCACTCTTTCGGGGAGAGCTACCGGGTGGGCAGCACCTCTGGCATCCACGCC c.1140
S | M A H S F G E S Y R V G S T S G I H A p.380
. . . . . . g.14776
ATCACCGTCTTCTGCTCCTGGGACTACAAGGTGACGCAGAAGCGGGCCTCCCGCCTCCAG c.1200
I T V F C S W D Y K V T Q K R A S R L Q p.400
. . | 11. . . . g.15729
CAGGACAATATTCGCACCCGGCTGAAG | GAGCTGCTGGCCGAGTGGCAGCTGCGGCACAGC c.1260
Q D N I R T R L K | E L L A E W Q L R H S p.420
. . . . . . g.15789
CCCAGGAGCGTGTGCGGGAGGCTGCGGCAGGCGGCTGTGCTGGGGCTTGTGTGGCTGCTG c.1320
P R S V C G R L R Q A A V L G L V W L L p.440
. . . . . . g.15849
TGTCTGGGGACCGCGCTGGGCTGCGCCGTGGCCGTCCACGTCTTCTCGGAGTTCATGATC c.1380
C L G T A L G C A V A V H V F S E F M I p.460
| 12 . . . . . . g.16300
CAG | AGTCCAGAGGCTGCTGGCCAGGAGGCTGTGCTGCTGGTCCTGCCCCTGGTGGTTGGC c.1440
Q | S P E A A G Q E A V L L V L P L V V G p.480
. . . . . . g.16360
CTCCTCAACCTGGGGGCCCCCTACCTGTGCCGTGTCCTGGCCGCCCTGGAGCCGCATGAC c.1500
L L N L G A P Y L C R V L A A L E P H D p.500
. . . | 13 . . . g.16600
TCCCCGGTACTGGAGGTGTACGTGGCCATCTGCAG | GAACCTCATCCTCAAGCTGGCCATC c.1560
S P V L E V Y V A I C R | N L I L K L A I p.520
. . . . . . g.16660
CTGGGGACACTGTGCTACCACTGGCTGGGCCGCAGGGTGGGCGTCCTGCAGGGCCAGTGC c.1620
L G T L C Y H W L G R R V G V L Q G Q C p.540
. . . . . . g.16720
TGGGAGGATTTTGTGGGCCAGGAGCTGTACCGGTTCCTGGTGATGGACTTCGTCCTCATG c.1680
W E D F V G Q E L Y R F L V M D F V L M p.560
. . . | 14 . . . g.18040
TTGCTGGACACGCTTTTTGGGGAACTGGTGTGGAG | GATTATCTCCGAGAAGAAGCTGAAG c.1740
L L D T L F G E L V W R | I I S E K K L K p.580
. . . . . . g.18100
AGGAGGCGGAAGCCGGAGTTTGACATTGCCCGGAATGTCCTGGAGCTGATTTATGGGCAG c.1800
R R R K P E F D I A R N V L E L I Y G Q p.600
. | 15 . . . . . g.18410
ACTCTGACCTG | GCTGGGGGTGCTCTTCTCGCCCCTCCTCCCCGCCGTGCAGATCATCAAG c.1860
T L T W | L G V L F S P L L P A V Q I I K p.620
. . | 16. . . . g.19505
CTGCTGCTCGTCTTCTATGTCAAGAAG | ACCAGCCTTCTGGCCAACTGCCAGGCGCCGCGC c.1920
L L L V F Y V K K | T S L L A N C Q A P R p.640
. . . . . . g.19565
CGGCCCTGGCTGGCCTCACACATGAGCACCGTCTTCCTCACGCTGCTCTGCTTCCCCGCC c.1980
R P W L A S H M S T V F L T L L C F P A p.660
. . . . | 17 . . g.19782
TTCCTGGGCGCCGCTGTCTTCCTCTGCTACGCCGTCTGGCA | GGTGAAGCCCTCGAGCACC c.2040
F L G A A V F L C Y A V W Q | V K P S S T p.680
. . . . . . g.19842
TGCGGCCCCTTCCGGACCCTGGACACCATGTACGAGGCCGGCAGGGTGTGGGTGCGCCAC c.2100
C G P F R T L D T M Y E A G R V W V R H p.700
. . . . . . g.19902
CTGGAGGCGGCAGGCCCCAGGGTCTCCTGGCTGCCCTGGGTGCACCGGTACCTGATGGAA c.2160
L E A A G P R V S W L P W V H R Y L M E p.720
. . . | 18 . . g.20082
AACACCTTCTTTGTCTTCCTGGTGTCAGCCCTGCTGCT | GGCCGTGATCTACCTCAACATC c.2220
N T F F V F L V S A L L L | A V I Y L N I p.740
. . . . . | 19. g.23786
CAGGTGGTGCGGGGCCAGCGCAAGGTCATCTGCCTGCTCAAGGAGCAGATCAGCAAT | GAG c.2280
Q V V R G Q R K V I C L L K E Q I S N | E p.760
. . . . . . g.23846
GGTGAGGACAAAATCTTCTTAATCAACAAGCTTCACTCCATCTACGAGAGGAAGGAGAGG c.2340
G E D K I F L I N K L H S I Y E R K E R p.780
. | 20 . . . . . g.24242
GAGGAGAGGAGCAG | GGTTGGGACAACCGAGGAGGCTGCGGCACCCCCTGCCCTGCTCACA c.2400
E E R S R | V G T T E E A A A P P A L L T p.800
. g.24260
GATGAACAGGATGCCTAG c.2418
D E Q D A X p.805
. . . . . . g.24320
ggggacggcgatgggcctcacgggcccgcccagcaccctgagaccacactgttgcctccc c.*60
. . . . . . g.24380
agtgaccctgctgggacaccaggacaaggaagacagtttcgcctctcgaaagccgcagct c.*120
. . . . . . g.24440
gcgcctaggctggagctggaagggtgggtgaatccggcttgggcatccccaatgaactct c.*180
. . . . . g.24490
gccctgcctgggactctatttattctgattaaaggggttttgcaaatggg c.*230
(downstream sequence)
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