(used for variant description)
(last modified November 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_018116.3 in the MSTO1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering MSTO1 transcript NM_018116.3.
(upstream sequence)
. g.5019
ccacgcgcctgccaagcca c.-61
. . . . . . g.5079
atcggctaggagcagcgagcggcgcggctgaggcgcggcggccccgtggagcagcgcagt c.-1
. . . . . . g.5139
ATGGCGGGCGGGGCCCGGGAGGTGCTCACACTGCAGTTGGGACATTTTGCCGGTTTCGTG c.60
M A G G A R E V L T L Q L G H F A G F V p.20
. . | 02 . . . . g.5291
GGCGCGCACTGGTGGAACCAGCAG | GATGCTGCGCTGGGCCGAGCGACCGATTCCAAGGAG c.120
G A H W W N Q Q | D A A L G R A T D S K E p.40
. . . . . . g.5351
CCCCCGGGAGAGCTGTGCCCCGACGTCCTGTATCGTACGGGCCGGACGCTGCACGGCCAG c.180
P P G E L C P D V L Y R T G R T L H G Q p.60
. . . . | 03 . . g.5889
GAGACCTACACGCCGCGACTCATCCTCATGGATCTGAAGG | GTAGTTTGAGCTCCCTAAAA c.240
E T Y T P R L I L M D L K G | S L S S L K p.80
. . . . . | 04 . g.6056
GAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATG | GCAGGGGAAG c.300
E E G G L Y R D K Q L D A A I A W | Q G K p.100
. . . . . . g.6116
CTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGT c.360
L T T H K E E L Y P K N P Y L Q D F L S p.120
| 05 . . . . . . g.6433
GCAGAG | GGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAA c.420
A E | G V L S S D G V W R V K S I P N G K p.140
| 06 . . . . . . g.6578
G | GTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGC c.480
G | S S P L P T A T T P K P L I P T E A S p.160
. . . . . . g.6638
ATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATT c.540
I R V W S D F L R V H L H P R S I C M I p.180
. . | 07 . . . . g.6853
CAGAAGTACAACCACGATGG | GGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGT c.600
Q K Y N H D G | E A G R L E A F G Q G E S p.200
. . . . . . g.6913
GTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAG c.660
V L K E P K Y Q E E L E D R L H F Y V E p.220
. | 08 . . . . g.7054
GAATGTGACTACTTGCAG | GGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGG c.720
E C D Y L Q | G F Q I L C D L H D G F S G p.240
. . . . . . g.7114
GTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACC c.780
V G A K A A E L L Q D E Y S G R G I I T p.260
. . . | 09 . . . g.7275
TGGGGCCTGCTACCTGGTCCCTACCATCGTGGG | GAGGCCCAGAGAAACATCTATCGTCTA c.840
W G L L P G P Y H R G | E A Q R N I Y R L p.280
. . . . . . g.7335
TTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTG c.900
L N T A F G L V H L T A H S S L V C P L p.300
. . . . . . g.7395
TCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCAT c.960
S L G G S L G L R P E P P V S F P Y L H p.320
| 10 . . . . . . g.7728
TATGAT | GCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTC c.1020
Y D | A T L P F H C S A I L A T A L D T V p.340
. . . . . . g.7788
ACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTG c.1080
T V P Y R L C S S P V S M V H L A D M L p.360
. | 11 . . . . g.7921
AGCTTCTGTGGGAAAAAG | GTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCA c.1140
S F C G K K | V V T A G A I I P F P L A P p.380
. . . . . . g.7981
GGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTG c.1200
G Q S L P D S L M Q F G G A T P W T P L p.400
. . . . . . g.8041
TCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGT c.1260
S A C G E P S G T R C F A Q S V V L R G p.420
. . | 12 . . . . g.8329
ATAGACAGAGCATGCCACACAAG | CCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTT c.1320
I D R A C H T S | Q L T P G T P P P S A L p.440
. . . . . . g.8389
CATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGA c.1380
H A C T T G E E I L A Q Y L Q Q Q Q P G p.460
| 13 . . . . . g.8539
GTCATGAG | TTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCAC c.1440
V M S | S S H L L L T P C R V A P P Y P H p.480
. . . . . | 14 g.8891
CTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAG | CA c.1500
L F S S C S P P G M V L D G S P K G A A | p.500
. . . . . . g.8951
GTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTG c.1560
V E S I P V F G A L C S S S S L H Q T L p.520
. . . . . . g.9011
GAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGAT c.1620
E A L A R D L T K L D L R R W A S F M D p.540
. . . . . . g.9071
GCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAG c.1680
A G V E H D D V A E L L Q E L Q S L A Q p.560
. . . g.9104
TGCTACCAGGGTGGTGACAGCCTCGTGGACTAA c.1713
C Y Q G G D S L V D X p.570
. . . . . . g.9164
agttcccagtgtgggagaaaggagctagtttgcaataaaaacagctggatgcaggagccc c.*60
. . . . . . g.9224
agtgtcttcatgcagaggagctcaatgtcgcgggactagctacaccaacatatgcacttt c.*120
. . . . . . g.9284
ttacatttagaaacactgtgattagaccacagaacaataaatatgtgccatcagaccaaa c.*180
. . . . . . g.9344
aaaaagtagagaaaggagctgaactccactctcgatgctacttacagaggacatctgtaa c.*240
. . . . . . g.9404
agtcttcataaaagaccttgaatgatgcctaggatggcagagcccctgggtcctactcca c.*300
. . . . . . g.9464
tcctccagcctttgtccttgtcctggcctcctgctctccagatctgtaaactgggctcaa c.*360
. . . . . . g.9524
ggactgtacaagcagagtacaactacccgcctccccggtgccagggcgcctgttgggttt c.*420
. . . . . . g.9584
ggtcctgtgtagatgattcccagagtctcattcatccagctcctcttcagacagaaggtc c.*480
. . . . . . g.9644
cccatggtcagacagctggtctgcattgctggtactggttgcatcatcctcatcctcaga c.*540
. . . . . . g.9704
gctggcttcacaggcagtgtggaagagctgcatgagttctcgaaaatggtgggaaaccta c.*600
. . . . . . g.9764
agaaaggaggagggctgtattcactgatccttagtaacatgttaacatttatgaagcact c.*660
. . . g.9798
atatattgatttgcaaaatcttttgtttattcca c.*694
(downstream sequence)
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