(used for variant description)
(last modified January 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_015166.3 in the MLC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009162.1, covering MLC1 transcript NM_015166.3.
(upstream sequence)
. . . g.5034
gtttttctctgcttggtgagcagagataaagggg c.-601
. . . . . . g.5094
gcagcaggaccgggcccaccagccatccgggctgcccacgcaaaccacagggccgaatcc c.-541
. . . . . . g.5154
ggagccgcccaaggccacacagctaagccgagtgcgtgaatgcttatgtgaccgtgtgaa c.-481
. . . . . . g.5214
ggaggttcccaccgtgtggctgtgggggatggaaaaaggctacttggaaagatgtagaag c.-421
. . . . . . g.5274
accttcgagtaaacagttacgtttcagaaacagagcctgctcagaatgtgtacttggtgg c.-361
. . . . . . g.5334
gattctattcttagggacgcttctttcttctgagagacccgagctctgtggcgagtggca c.-301
. . . . . . g.5394
caggcagggccccttcctttcctagttgggttctgacagctccgaggcagtggtttacac c.-241
. . . . . . g.5454
aaccaacacgaaacatttctacgatccacccgattcctcccctcattgatattcaggaag c.-181
. . . . . . g.5514
cagctctccttcccctgccttcagctcaagtttgctgagcttttgtttcatttgtgaata c.-121
. . . . . . g.5574
cttcttgctggaagtccctcacccagagaccagtgctcccaacggcagagcagcggggga c.-61
. | 02 . . . . . g.6027
g | ataaagaactggtgacacgtggctgtacattcagcacagctgtggtgtccccaagtgcc c.-1
. . . . . . g.6087
ATGACCCAGGAGCCATTCAGAGAGGAGCTGGCCTATGACCGGATGCCCACGCTGGAGCGG c.60
M T Q E P F R E E L A Y D R M P T L E R p.20
. . . . . . g.6147
GGCCGGCAAGACCCCGCCAGCTATGCCCCAGACGCGAAGCCGAGCGACCTGCAGCTGTCG c.120
G R Q D P A S Y A P D A K P S D L Q L S p.40
. . . . . | 03. g.7759
AAGAGACTGCCCCCCTGCTTCAGCCACAAGACGTGGGTCTTCTCTGTGCTGATGGGG | AGC c.180
K R L P P C F S H K T W V F S V L M G | S p.60
. . . . . . g.7819
TGCCTCCTGGTGACCTCGGGGTTTTCGCTGTACCTGGGGAACGTGTTCCCGGCTGAGATG c.240
C L L V T S G F S L Y L G N V F P A E M p.80
. . | 04. . . . g.10565
GATTACTTGCGCTGTGCTGCAGGCTCT | TGCATCCCCTCGGCAATTGTGAGCTTCACCGTC c.300
D Y L R C A A G S | C I P S A I V S F T V p.100
. . | 05 . . . . g.10949
TCCAGGAGGAACGCCAATGTG | ATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCT c.360
S R R N A N V | I P N F Q I L F V S T F A p.120
. . . . . . g.11009
GTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATA c.420
V T T T C L I W F G C K L V L N P S A I p.140
| 06 . . . . . . g.13484
AAC | ATCAACTTCAACCTCATCCTGCTGCTCCTGCTGGAGCTGCTCATGGCGGCCACGGTG c.480
N | I N F N L I L L L L L E L L M A A T V p.160
. . . . | 07 . . g.14032
ATCATCGCTGCACGGTCCAGCGAGGAGGACTGCAAGAAAAAGAAG | GGCTCCATGTCTGAC c.540
I I A A R S S E E D C K K K K | G S M S D p.180
. . . . . | 08. g.16600
AGCGCCAACATTCTGGACGAAGTGCCATTTCCTGCTCGGGTCCTGAAATCTTACTCA | GTC c.600
S A N I L D E V P F P A R V L K S Y S | V p.200
. . . . . . g.16660
GTCGAGGTAATCGCAGGCATCTCTGCCGTCCTCGGGGGGATCATTGCCCTGAACGTGGAT c.660
V E V I A G I S A V L G G I I A L N V D p.220
. . . . . | 09 . g.20352
GACTCAGTTTCAGGCCCACACCTCTCAGTGACGTTCTTTTGGATCCTAGTGGCC | TGCTTT c.720
D S V S G P H L S V T F F W I L V A | C F p.240
. . . . . | 10 . g.22383
CCAAGTGCCATTGCCAGTCATGTGGCAGCAGAGTGTCCCAGCAAGTGTCTG | GTGGAGGTC c.780
P S A I A S H V A A E C P S K C L | V E V p.260
. . . . . . g.22443
CTGATTGCCATAAGCAGCCTCACGTCTCCGCTGCTGTTCACAGCCTCTGGATATCTGTCA c.840
L I A I S S L T S P L L F T A S G Y L S p.280
. . . . . | 11 . g.26737
TTCAGCATCATGAGAATCGTGGAGATGTTTAAGGATTACCCGCCAGCCATAAAA | CCATCC c.900
F S I M R I V E M F K D Y P P A I K | P S p.300
. . . . . . g.26797
TACGATGTGCTGCTGCTGCTGCTGCTGCTAGTGCTCCTGCTGCAGGCCGGCCTCAACACG c.960
Y D V L L L L L L L V L L L Q A G L N T p.320
. . . . . . g.26857
GGCACCGCCATCCAGTGCGTGCGCTTCAAGGTCAGTGCAAGGCTGCAGGGTGCATCCTGG c.1020
G T A I Q C V R F K V S A R L Q G A S W p.340
. . . | 12 . . g.29293
GACACCCAGAACGGCCCGCAGGAGCGCCTGGCTGGGGAG | GTGGCCAGGAGCCCCCTGAAG c.1080
D T Q N G P Q E R L A G E | V A R S P L K p.360
. . . . . g.29347
GAGTTCGACAAGGAGAAAGCCTGGAGAGCCGTCGTGGTGCAAATGGCCCAGTGA c.1134
E F D K E K A W R A V V V Q M A Q X p.377
. . . . . . g.29407
cccccagacgcggaaaccgggtggcagcgcccagcctggccccaagcatggaaacgcaca c.*60
. . . . . . g.29467
acccctaatcgccctgagctactgcttctaacacctcttttcccttgtgtgagggcaaac c.*120
. . . . . . g.29527
caggctgcaggtggggttttcacttcctagggtagtttaattttaaaataggccaatgtt c.*180
. . . . . . g.29587
ggctagtctgtgcctcagtgagatcagtcagctccgagtggctcccgtgtcgtaacagca c.*240
. . . . . . g.29647
ggagcatggccgcaacttcccaggccgaggaagggcccccggctcggcctcttgagagcc c.*300
. . . . . . g.29707
ccacccctgaactggccccagctcctcttcctgcctctctcatggcttgggctggagtgg c.*360
. . . . . . g.29767
gctctctggacctgaccagactgtgggtccctgcgtctcctgcccactctgaccgggctt c.*420
. . . . . . g.29827
cctccctccacgcttagggtctgtcccgggtactcagtcagcccagtgggatcttaccca c.*480
. . . . . . g.29887
cttccctgcaaggtgcacctgccccaggctcaggctgcccagcggctcttcctggacagt c.*540
. . . . . . g.29947
gagagcagggctgggcgcctctgtcctggcccgggagccgcaggggcccctcctccagag c.*600
. . . . . . g.30007
cctgggcgcaagcgacacaggctgccgctgctctcccaggtgaaatccacaccagtccac c.*660
. . . . . . g.30067
gccgggtcgcctgccctgtctccctacttagacccagtcattctagagggatccaccgcc c.*720
. . . . . . g.30127
acactggccggcccacgtcctgggtgctgtcatgcccagcttggagtgccacgtggccgc c.*780
. . . . . . g.30187
tgcccacgtcccgggcactgtcatgcccagcttggagtgccacatggccgctgcccacgt c.*840
. . . . . . g.30247
cccgggcactgtcatgcccagcttggagtgccacgtggccgctgctgtgacaggcagtgt c.*900
. . . . . . g.30307
tcttgggggtggggctgcatccaaggctttgtaaaccggctggaccacgtctccctggcc c.*960
. . . . . . g.30367
ccagtgaccgggggaagctgagcccctccctcctgtgtttgctcccattactcaaaatgc c.*1020
. . . . . . g.30427
aggacagatcaggtcagagcccaggaattctcacaggttcacccagcgccctctacctcc c.*1080
. . . . . . g.30487
tagcaagtactttgtcttgatcctcactgagaaggccccagggcagcggtcttctccatc c.*1140
. . . . . . g.30547
tccgctgttttggggtcttagggtacagcccaggcggtcactgcccacctgccaggctgc c.*1200
. . . . . . g.30607
agggacagttgggtgtgagaataacactggctttgggtagtgccatggccaggagtgggt c.*1260
. . . . . . g.30667
ttccctgcgtctcctcgtcccgagggcgcctgggtcctcccagctgacggcagtaaatcc c.*1320
. . . . . . g.30727
acagtgagttggggcgactgtgaaactggaatgctgttactttgataattactttccagc c.*1380
. . . . . . g.30787
aggtgttttccttcacaatggttttgtttctttccttctgatctgagaagacatgaacgt c.*1440
. . . . . . g.30847
tttctcttcaccgccgtggggtgtattgactggtcccccatgggctgctggaaaggcccg c.*1500
. . . . . . g.30907
gagatgcatctgtggcctggggccatcaagatcaaagaaccaggaggcctgggagatgca c.*1560
. . . . . . g.30967
gctggatggggcggcctgcagaccctgccagggggtttgaggaccctcccaggtttccca c.*1620
. . . . . . g.31027
ctgcggaacaggagtgactctggctgccaagataccttcatggtgttcatgacaagtgga c.*1680
. . . . . . g.31087
atcattattttcaaccattgaagggggatgcaggcaagacaccttcccagctgctcctag c.*1740
. . . . . . g.31147
aggggacaagccaggccctctctgcagtcctcggcagctccggaaggacacagtcagggg c.*1800
. . . . . . g.31207
ccgggcaaacactttggccacagccccaaacaagcgccaccgtgggagaggagaggctgc c.*1860
. . . . . . g.31267
tgtcactggtaccggatgcagaccccaccctgtctgcaggccacccccacctccctgcag c.*1920
. . . . . . g.31327
ctttgaggctggcggggtctgctcctgggaatggggtgggagccacagggacgacccggg c.*1980
. . . . . . g.31387
gcgggctgatgtcttcttgggggcagaccagagagctcaagtttcagagtcagaattagg c.*2040
. . . . . . g.31447
cacttggagcgtttttgctggcttgcactttcttattttcttattttagagcgcttaaaa c.*2100
. . . . . . g.31507
aatccggaaaaatggggtttaaaagaactgtctctttcagtctacatttttgtttaatac c.*2160
. . . g.31539
gcttgagcaataaacgctgacttgcagacgtg c.*2192
(downstream sequence)
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