(used for variant description)
(last modified March 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_015978.2 in the TNNI3K gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032939.2, covering TNNI3K transcript NM_015978.2.
(upstream sequence)
g.42139
gcact c.-61
. . . . . . g.42199
tgaacttggaatcttataacttgaagaactgccctggagaaaggaagaaacttataataa c.-1
. . . . | 02 . . g.42869
ATGGGAAATTATAAATCTAGACCAACCCAAACTTGTACTG | ATGAATGGAAGAAAAAAGTC c.60
M G N Y K S R P T Q T C T D | E W K K K V p.20
. . . . . . g.42929
AGTGAATCATATGTTATCACAATAGAAAGATTAGAAGATGACCTGCAGATCAAGGAAAAA c.120
S E S Y V I T I E R L E D D L Q I K E K p.40
. . | 03 . . . g.56237
GAACTGACAGAACTAAGGAATATATTTGG | CTCTGATGAAGCCTTCAGTAAAGTCAATTTA c.180
E L T E L R N I F G | S D E A F S K V N L p.60
. . . . . | 04 . g.57424
AATTACCGCACTGAAAATGGGCTGTCTCTACTTCATTTATGTTGCATTTGTGGAG | GCAAG c.240
N Y R T E N G L S L L H L C C I C G G | K p.80
. . . . . . g.57484
AAATCACATATTCGAACTCTTATGTTGAAAGGGCTCCGCCCATCTCGACTGACAAGAAAT c.300
K S H I R T L M L K G L R P S R L T R N p.100
. . . | 05 . . . g.78372
GGATTTACAGCCTTGCATTTAGCAGTTTACAAG | GATAATGCAGAATTGATCACTTCTCTG c.360
G F T A L H L A V Y K | D N A E L I T S L p.120
. . . . . . g.78432
CTTCACAGTGGAGCTGATATACAGCAGGTTGGATACGGTGGCCTCACTGCCCTCCATATT c.420
L H S G A D I Q Q V G Y G G L T A L H I p.140
. . | 06 . . . . g.138233
GCTACAATAGCTGGCCACCTAGAG | GCTGCTGATGTGCTGTTGCAACATGGAGCTAATGTC c.480
A T I A G H L E | A A D V L L Q H G A N V p.160
. . . . . . g.138293
AATATTCAAGATGCAGTTTTTTTCACTCCATTGCATATTGCAGCGTACTATGGACATGAA c.540
N I Q D A V F F T P L H I A A Y Y G H E p.180
| 07 . . . . . . g.142815
CAG | GTAACTCGCCTTCTTTTGAAATTTGGTGCTGATGTAAATGTAAGTGGTGAAGTTGGA c.600
Q | V T R L L L K F G A D V N V S G E V G p.200
. . . . . . g.142875
GATAGACCCCTCCACCTAGCATCTGCAAAAGGATTCTTGAATATTGCAAAACTCTTGATG c.660
D R P L H L A S A K G F L N I A K L L M p.220
. . | 08 . . . . g.149627
GAAGAAGGCAGCAAAGCAGATG | TGAATGCTCAAGATAATGAAGACCATGTCCCACTCCAT c.720
E E G S K A D V | N A Q D N E D H V P L H p.240
. . . . . . g.149687
TTCTGTTCTCGATTTGGACACCATGATATAGTTAAGTATCTGCTGCAAAGTGATTTGGAA c.780
F C S R F G H H D I V K Y L L Q S D L E p.260
. . . . | 09. . g.149835
GTTCAACCTCATGTTGTTAATATCTATGGAGATACCCCCTTACACCT | GGCATGCTACAAT c.840
V Q P H V V N I Y G D T P L H L | A C Y N p.280
. . . . . . g.149895
GGCAAATTTGAAGTTGCCAAGGAAATCATCCAAATATCAGGAACAGAAAGTCTGACTAAG c.900
G K F E V A K E I I Q I S G T E S L T K p.300
. . . | 10 . . . g.160041
GAAAACATCTTCAGTGAAACAGCTTTTCATAG | TGCTTGTACCTATGGCAAGAGCATTGAC c.960
E N I F S E T A F H S | A C T Y G K S I D p.320
. . . . . . g.160101
CTAGTCAAATTTCTTCTTGATCAGAATGTCATAAACATCAACCACCAAGGAAGGGATGGG c.1020
L V K F L L D Q N V I N I N H Q G R D G p.340
| 11. . . . . . g.160780
CACACTG | GATTACACTCTGCTTGCTACCACGGTCACATTCGCCTGGTTCAGTTCTTACTG c.1080
H T G | L H S A C Y H G H I R L V Q F L L p.360
. . . . . . g.160840
GATAATGGAGCTGATATGAATCTAGTGGCTTGTGATCCCAGCAGGTCTAGTGGTGAAAAA c.1140
D N G A D M N L V A C D P S R S S G E K p.380
. . . | 12. . . g.174026
GATGAGCAGACATGTTTGATGTGGGCTTATGAAAAAG | GGCATGATGCCATTGTCACACTC c.1200
D E Q T C L M W A Y E K G | H D A I V T L p.400
. . . . . . g.174086
CTGAAGCATTATAAGAGACCACAAGATGAATTGCCCTGTAATGAATATTCTCAGCCTGGA c.1260
L K H Y K R P Q D E L P C N E Y S Q P G p.420
| 13 . . . . . . g.174711
GGAG | ATGGCTCCTATGTGTCTGTTCCATCACCCTTGGGGAAGATTAAAAGCATGACAAAA c.1320
G D | G S Y V S V P S P L G K I K S M T K p.440
| 14 . . . . . . g.175828
G | AGAAGGCAGATATTCTCCTCCTAAGAGCTGGATTGCCTTCACATTTCCATCTTCAGCTC c.1380
E | K A D I L L L R A G L P S H F H L Q L p.460
. . . | 15 . . . g.175980
TCAGAAATTGAGTTCCATGAGATTATTGGCTCAG | GTTCTTTTGGGAAAGTATATAAAGGA c.1440
S E I E F H E I I G S G | S F G K V Y K G p.480
. . . | 16 . . . g.176166
CGATGCAGAAATAAAATAGTGGCTATAAAACG | TTATCGAGCCAATACCTACTGCTCCAAG c.1500
R C R N K I V A I K R | Y R A N T Y C S K p.500
. . . . . . g.176226
TCAGATGTGGATATGTTTTGCCGAGAGGTGTCCATTCTCTGCCAGCTCAATCATCCCTGC c.1560
S D V D M F C R E V S I L C Q L N H P C p.520
. . . . . . g.176286
GTAATTCAGTTTGTGGGTGCTTGCTTGAATGATCCCAGCCAGTTTGCCATTGTCACTCAA c.1620
V I Q F V G A C L N D P S Q F A I V T Q p.540
. . . . | 17. . g.177048
TACATATCAGGGGGTTCTCTGTTCTCCCTCCTTCATGAGCAGAAGAG | GATTCTTGATTTG c.1680
Y I S G G S L F S L L H E Q K R | I L D L p.560
. . . . . . g.177108
CAGTCTAAATTAATTATTGCAGTAGATGTTGCCAAAGGCATGGAGTACCTTCACAACCTG c.1740
Q S K L I I A V D V A K G M E Y L H N L p.580
. . . | 18 . . . g.242855
ACACAGCCAATTATACATCGTGACTTGAACAG | TCACAATATTCTTCTCTATGAGGATGGG c.1800
T Q P I I H R D L N S | H N I L L Y E D G p.600
. . | 19 . . . . g.243256
CATGCTGTGGTGGCAGATTTTGGAG | AATCAAGATTTCTACAGTCTCTGGATGAAGACAAC c.1860
H A V V A D F G E | S R F L Q S L D E D N p.620
. | 20 . . . . g.246279
ATGACAAAACAACCTGGG | AACCTCCGTTGGATGGCTCCTGAGGTGTTCACGCAGTGCACT c.1920
M T K Q P G | N L R W M A P E V F T Q C T p.640
. . . . . . g.246339
CGGTACACCATCAAAGCAGATGTCTTCAGCTATGCTCTGTGTCTGTGGGAAATTCTCACT c.1980
R Y T I K A D V F S Y A L C L W E I L T p.660
. . . | 21 . . . g.270217
GGCGAAATTCCATTCGCTCATCTCAAGCCAG | CGGCTGCGGCAGCAGACATGGCTTACCAC c.2040
G E I P F A H L K P A | A A A A D M A Y H p.680
. . . . . . g.270277
CACATCAGACCTCCCATTGGCTATTCCATTCCCAAGCCCATATCATCTCTGCTGATACGA c.2100
H I R P P I G Y S I P K P I S S L L I R p.700
. . | 22 . . . . g.295975
GGGTGGAACGCATGTCCTGAA | GGAAGACCCGAATTTTCTGAAGTTGTCATGAAGTTAGAA c.2160
G W N A C P E | G R P E F S E V V M K L E p.720
. . | 23 . . . . g.298883
GAGTGTCTCTGCAACATTGAG | CTGATGTCTCCTGCATCAAGTAACAGCAGTGGGTCTCTC c.2220
E C L C N I E | L M S P A S S N S S G S L p.740
. . . . . . g.298943
TCACCTTCTTCTTCTTCTGATTGCCTGGTGAACCGGGGAGGACCTGGCCGGAGTCATGTG c.2280
S P S S S S D C L V N R G G P G R S H V p.760
. . . . . . g.299003
GCAGCATTAAGAAGTCGTTTCGAATTGGAATATGCTCTAAATGCAAGGTCCTATGCTGCT c.2340
A A L R S R F E L E Y A L N A R S Y A A p.780
. | 24 . . . . . g.347030
TTGTCCCAAAG | TGCTGGACAATATTCCTCTCAAGGTCTGTCTTTGGAGGAGATGAAAAGA c.2400
L S Q S | A G Q Y S S Q G L S L E E M K R p.800
. . . | 25 . . . g.350682
AGTCTTCAATACACACCCATTGACAAATATG | GCTATGTATCCGATCCCATGAGCTCAATG c.2460
S L Q Y T P I D K Y G | Y V S D P M S S M p.820
. . . . g.350730
CATTTTCATTCTTGCCGAAATAGTAGCAGCTTTGAGGACAGCAGCTGA c.2508
H F H S C R N S S S F E D S S X p.835
. . . . . . g.350790
cagcattcggcgtatacctaaggagagttttttccccgaactgacagcaacgattccaac c.*60
. . . . . . g.350850
cacggcaagctggcttccaactataacattttactctcaaaggtctccttaaattgggct c.*120
. . . . . . g.350910
tgtttttacttgtcctatttaattccccactattagcaggctttggatttgtgcctaagg c.*180
. . . . . . g.350970
aataatatgcaaaagaaccaagacagaatgtatatgaagaattgtttttaattttgtaaa c.*240
. . . . . . g.351030
ttaaaaaaaaatttagatcgttacttggaaatggagcctaagtctgtggtggacagataa c.*300
. . . . . . g.351090
taattatgttttcctgggctgaattatgtagacttgtgtttgacagctatgggtttattt c.*360
. . . . . . g.351150
cttagaacattgttcattttcttttctcattatgttacttctagtgttcacctctgtgat c.*420
. . . g.351180
taaagattctttggtgaaatagaaaattga c.*450
(downstream sequence)
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