(used for variant description)
(last modified September 5, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_138691.2 in the TMC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008213.1, covering TMC1 transcript NM_138691.2.
(upstream sequence)
. . . . . . g.5060
cagaaactatgagggcagaacccagcaatctgtgctttctttcacaagccctccaggagt c.-481
. . . . . . | 02 g.61108
tgctgaaatttaggaatcattgccccaaaaagtggccctcataatgatgccag | atgggat c.-421
. . . . . . g.61168
cttactctgttgcccaggctggagtgcagtggtgcgatctcggctctctgcaacctccgc c.-361
. . . . . . | 03 g.99572
ctcccaggttcaagtgattctcctgcctcggcctcctgagtagctgggatttcag | gccat c.-301
. . . . . . g.99632
gaaagatcactgttttagtctgcgtggtgcagtggaacagatagacctcggtttgaatct c.-241
. . . . . | 04 . g.111135
cagctctactgtttactagacatgaaatggggaaatctaaaatga | gatgccagaagcctc c.-181
. . . . . . g.111195
aaaaatggaaaaccccctgtgcttcacatctgaaaatctctgctgggggcagcaactttg c.-121
. . . . . . g.111255
agcctgtggggaaggaactgtccacgtggagtggtctggtgaatgcttaaggagctgcag c.-61
. | 05. . . . . g.131848
aagggaag | tccctctccaaactagccagccactgagaccttctgacaggacacccccagg c.-1
. | 06 . . . . . g.171952
ATGTCACCCAAAAAAG | TACAAATCAAAGTGGAGGAAAAAGAAGACGAGACTGAGGAAAGC c.60
M S P K K V | Q I K V E E K E D E T E E S p.20
| 07 . . . . . . g.177798
TCAA | GTGAAGAGGAAGAGGAGGTGGAAGATAAGCTACCTCGAAGAGAGAGCTTGAGACCA c.120
S S | E E E E E V E D K L P R R E S L R P p.40
. . . . . . g.177858
AAGAGGAAACGGACCAGAGATGTTATCAATGAGGATGACCCAGAACCTGAACCAGAGGAT c.180
K R K R T R D V I N E D D P E P E P E D p.60
. . . . . | 08 . g.183721
GAAGAAACAAGGAAGGCAAGAGAAAAAGAGAGGAGGAGGAGGCTAAAGAGAGGAGC | AGAA c.240
E E T R K A R E K E R R R R L K R G A | E p.80
. . . . . . g.183781
GAAGAAGAAATTGATGAAGAGGAATTGGAAAGATTGAAGGCAGAGTTAGATGAGAAAAGA c.300
E E E I D E E E L E R L K A E L D E K R p.100
. . . . . . g.183841
CAAATAATTGCTACTGTCAAATGCAAACCATGGAAGATGGAGAAGAAAATTGAAGTTCTC c.360
Q I I A T V K C K P W K M E K K I E V L p.120
| 09 . . . . . . g.223376
AA | GGAGGCAAAAAAATTTGTGAGTGAAAATGAAGGGGCTCTTGGGAAAGGAAAAGGAAAA c.420
K | E A K K F V S E N E G A L G K G K G K p.140
. . . | 10 . . . g.225670
CGGTGGTTTGCATTTAAGATGATGATGGCCAAG | AAATGGGCAAAATTCCTCCGTGATTTT c.480
R W F A F K M M M A K | K W A K F L R D F p.160
. . . . . | 11 . g.235054
GAGAACTTCAAAGCTGCGTGTGTCCCATGGGAAAATAAAATCAAGGCTATTGAAA | GTCAG c.540
E N F K A A C V P W E N K I K A I E S | Q p.180
. . . . . . g.235114
TTTGGCTCCTCAGTGGCCTCATACTTCCTCTTCTTGAGATGGATGTATGGAGTCAATATG c.600
F G S S V A S Y F L F L R W M Y G V N M p.200
. . . . | 12 . . g.238003
GTTCTCTTTATCCTGACATTTAGCCTCATCATGTTGCCAGAG | TACCTCTGGGGTTTGCCA c.660
V L F I L T F S L I M L P E | Y L W G L P p.220
. . . . . . g.238063
TATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTT c.720
Y G S L P R K T V P R A E E A S A A N F p.240
. . | 13 . . . . g.255651
GGTGTGTTGTACGACTTCAAT | GGTTTGGCACAATATTCCGTTCTCTTTTATGGCTATTAT c.780
G V L Y D F N | G L A Q Y S V L F Y G Y Y p.260
. . . . . . g.255711
GACAATAAACGAACAATTGGATGGATGAATTTCAGGTTGCCGCTCTCCTATTTTCTAGTG c.840
D N K R T I G W M N F R L P L S Y F L V p.280
. . . . | 14 . . g.271554
GGGATTATGTGCATTGGATACAGCTTTCTGGTTGTCCTCAAAGC | AATGACCAAAAACATT c.900
G I M C I G Y S F L V V L K A | M T K N I p.300
. . . . . . g.271614
GGTGATGATGGAGGTGGAGATGACAACACTTTCAATTTCAGCTGGAAGGTCTTTACCAGC c.960
G D D G G G D D N T F N F S W K V F T S p.320
. . . . . . g.271674
TGGGACTACCTGATCGGCAATCCTGAAACAGCAGACAACAAATTTAATTCTATCACAATG c.1020
W D Y L I G N P E T A D N K F N S I T M p.340
| 15 . . . . . g.272373
AACTTTAAG | GAAGCTATCACAGAAGAAAAAGCAGCCCAAGTAGAAGAAAACGTCCACTTG c.1080
N F K | E A I T E E K A A Q V E E N V H L p.360
. . . . . . g.272433
ATCAGATTCCTGAGGTTTCTGGCTAACTTCTTCGTGTTTCTAACACTTGGAGGGAGTGGA c.1140
I R F L R F L A N F F V F L T L G G S G p.380
. . . . . . g.272493
TACCTCATCTTTTGGGCTGTGAAGCGATCCCAGGAATTTGCACAGCAAGATCCTGACACC c.1200
Y L I F W A V K R S Q E F A Q Q D P D T p.400
. . | 16 . . . . g.275121
CTTGGGTGGTGGGAAAAAAATGAA | ATGAACATGGTTATGTCCCTCCTAGGGATGTTCTGT c.1260
L G W W E K N E | M N M V M S L L G M F C p.420
. . . . . . g.275181
CCAACATTGTTTGACTTATTTGCTGAATTAGAAGACTACCATCCTCTCATCGCTTTGAAA c.1320
P T L F D L F A E L E D Y H P L I A L K p.440
. . . . . . g.275241
TGGCTACTGGGACGCATTTTTGCTCTTCTTTTAGGCAATTTATACGTATTTATTCTTGCA c.1380
W L L G R I F A L L L G N L Y V F I L A p.460
. . | 17 . . . . g.275426
TTAATGGATGAGATTAACAACAAG | ATTGAAGAGGAGAAGCTAGTAAAGGCCAATATTACC c.1440
L M D E I N N K | I E E E K L V K A N I T p.480
. . . . . . g.275486
CTTTGGGAAGCCAATATGATCAAGGCCTACAATGCATCATTCTCTGAAAATAGCACTGGA c.1500
L W E A N M I K A Y N A S F S E N S T G p.500
. . . . . . g.275546
CCACCCTTTTTTGTTCACCCTGCAGATGTACCTCGAGGACCTTGCTGGGAAACAATGGTG c.1560
P P F F V H P A D V P R G P C W E T M V p.520
| 18 . . . . . . g.288635
GGACAG | GAGTTTGTGAGGCTGACAGTCTCTGATGTTCTGACCACCTACGTCACAATCCTC c.1620
G Q | E F V R L T V S D V L T T Y V T I L p.540
. . . . . . g.288695
ATTGGGGACTTTCTAAGGGCATGTTTTGTGAGGTTTTGCAATTATTGCTGGTGCTGGGAC c.1680
I G D F L R A C F V R F C N Y C W C W D p.560
. | 19 . . . . . g.299387
TTGGAGTATGGATAT | CCTTCATACACCGAATTCGACATCAGTGGCAACGTCCTCGCTCTG c.1740
L E Y G Y | P S Y T E F D I S G N V L A L p.580
. . | 20 . . . . g.304078
ATCTTCAACCAAGGCATGATCTG | GATGGGCTCCTTCTTTGCTCCCAGCCTCCCAGGCATC c.1800
I F N Q G M I W | M G S F F A P S L P G I p.600
. . . . . . g.304138
AATATCCTTCGACTCCATACATCCATGTACTTCCAGTGCTGGGCCGTTATGTGCTGCAAT c.1860
N I L R L H T S M Y F Q C W A V M C C N p.620
. . . . . . g.304198
GTTCCTGAGGCCAGGGTCTTCAAAGCTTCCAGATCAAATAACTTCTACCTGGGCATGCTA c.1920
V P E A R V F K A S R S N N F Y L G M L p.640
. . . . . . g.304258
CTGCTCATCCTCTTCCTGTCCACAATGCCTGTCTTGTACATGATCGTGTCCCTCCCACCA c.1980
L L I L F L S T M P V L Y M I V S L P P p.660
. . | 21 . . . . g.310105
TCTTTTGATTGTGGTCCATTCAG | TGGCAAAAATAGAATGTTTGAAGTCATTGGAGAGACC c.2040
S F D C G P F S | G K N R M F E V I G E T p.680
. . . . . . g.310165
CTGGAGCACGATTTCCCAAGCTGGATGGCGAAGATCTTGAGACAGCTTTCAAACCCTGGG c.2100
L E H D F P S W M A K I L R Q L S N P G p.700
. . | 22 . . . g.313681
CTGGTCATTGCTGTCATTTTGGTGATGGT | TTTGGCCATCTATTATCTCAATGCTACTGCC c.2160
L V I A V I L V M V | L A I Y Y L N A T A p.720
. . . . | 23 . g.313842
AAGGGCCAGAAGGCAGCGAATCTGGATCTCAAAAAGAAGATGAAAATG | CAAGCTTTGGAG c.2220
K G Q K A A N L D L K K K M K M | Q A L E p.740
. . . . | 24 . . g.319170
AACAAAATGCGAAACAAGAAAATGGCAGCTGCACGAGCAG | CTGCAGCTGCTGGTCGCCAG c.2280
N K M R N K K M A A A R A A | A A A G R Q p.760
g.319173
TAA c.2283
X p.760
. . . . . . g.319233
taagtatcctgagagcccagaaaaggtacactttgccttgctgtttaaaagtaatgcaat c.*60
. . . . . . g.319293
atgtgaacgcccagagaacaagcactgtggaactgctattttcctgttctacccttgatg c.*120
. . . . . . g.319353
gattttcaaggtcatgctggccaattaaggcatcatcagtcctacctgagcaacaagaat c.*180
. . . . . . g.319413
ctaaactttattccaagtcagaaactgtttctgcagagccactctctcccctgctccatt c.*240
. . . . . . g.319473
tcgtgactttttttttttttttaacaaattgagtttagaagtgagtgtaatccagcaata c.*300
. . . . . . g.319533
cagtttactggtttagttggtgggttaattaaaaaaaatttgctcatatgaactttcatt c.*360
. g.319551
ttatatgtttcttttgcc c.*378
(downstream sequence)
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