(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000261.1 in the MYOC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008859.1, covering MYOC transcript NM_000261.1.
(upstream sequence)
. . g.5022
gaagcctcaccaagcctctgca c.-1
. . . . . . g.5082
ATGAGGTTCTTCTGTGCACGTTGCTGCAGCTTTGGGCCTGAGATGCCAGCTGTCCAGCTG c.60
M R F F C A R C C S F G P E M P A V Q L p.20
. . . . . . g.5142
CTGCTTCTGGCCTGCCTGGTGTGGGATGTGGGGGCCAGGACAGCTCAGCTCAGGAAGGCC c.120
L L L A C L V W D V G A R T A Q L R K A p.40
. . . . . . g.5202
AATGACCAGAGTGGCCGATGCCAGTATACCTTCAGTGTGGCCAGTCCCAATGAATCCAGC c.180
N D Q S G R C Q Y T F S V A S P N E S S p.60
. . . . . . g.5262
TGCCCAGAGCAGAGCCAGGCCATGTCAGTCATCCATAACTTACAGAGAGACAGCAGCACC c.240
C P E Q S Q A M S V I H N L Q R D S S T p.80
. . . . . . g.5322
CAACGCTTAGACCTGGAGGCCACCAAAGCTCGACTCAGCTCCCTGGAGAGCCTCCTCCAC c.300
Q R L D L E A T K A R L S S L E S L L H p.100
. . . . . . g.5382
CAATTGACCTTGGACCAGGCTGCCAGGCCCCAGGAGACCCAGGAGGGGCTGCAGAGGGAG c.360
Q L T L D Q A A R P Q E T Q E G L Q R E p.120
. . . . . . g.5442
CTGGGCACCCTGAGGCGGGAGCGGGACCAGCTGGAAACCCAAACCAGAGAGTTGGAGACT c.420
L G T L R R E R D Q L E T Q T R E L E T p.140
. . . . . . g.5502
GCCTACAGCAACCTCCTCCGAGACAAGTCAGTTCTGGAGGAAGAGAAGAAGCGACTAAGG c.480
A Y S N L L R D K S V L E E E K K R L R p.160
. . . . . . g.5562
CAAGAAAATGAGAATCTGGCCAGGAGGTTGGAAAGCAGCAGCCAGGAGGTAGCAAGGCTG c.540
Q E N E N L A R R L E S S S Q E V A R L p.180
. . . . . . g.5622
AGAAGGGGCCAGTGTCCCCAGACCCGAGACACTGCTCGGGCTGTGCCACCAGGCTCCAGA c.600
R R G Q C P Q T R D T A R A V P P G S R p.200
| 02 . . . . . . g.18967
GAAG | TTTCTACGTGGAATTTGGACACTTTGGCCTTCCAGGAACTGAAGTCCGAGCTAACT c.660
E V | S T W N L D T L A F Q E L K S E L T p.220
. . . . . . g.19027
GAAGTTCCTGCTTCCCGAATTTTGAAGGAGAGCCCATCTGGCTATCTCAGGAGTGGAGAG c.720
E V P A S R I L K E S P S G Y L R S G E p.240
. | 03 . . . . . g.20974
GGAGACACCG | GATGTGGAGAACTAGTTTGGGTAGGAGAGCCTCTCACGCTGAGAACAGCA c.780
G D T G | C G E L V W V G E P L T L R T A p.260
. . . . . . g.21034
GAAACAATTACTGGCAAGTATGGTGTGTGGATGCGAGACCCCAAGCCCACCTACCCCTAC c.840
E T I T G K Y G V W M R D P K P T Y P Y p.280
. . . . . . g.21094
ACCCAGGAGACCACGTGGAGAATCGACACAGTTGGCACGGATGTCCGCCAGGTTTTTGAG c.900
T Q E T T W R I D T V G T D V R Q V F E p.300
. . . . . . g.21154
TATGACCTCATCAGCCAGTTTATGCAGGGCTACCCTTCTAAGGTTCACATACTGCCTAGG c.960
Y D L I S Q F M Q G Y P S K V H I L P R p.320
. . . . . . g.21214
CCACTGGAAAGCACGGGTGCTGTGGTGTACTCGGGGAGCCTCTATTTCCAGGGCGCTGAG c.1020
P L E S T G A V V Y S G S L Y F Q G A E p.340
. . . . . . g.21274
TCCAGAACTGTCATAAGATATGAGCTGAATACCGAGACAGTGAAGGCTGAGAAGGAAATC c.1080
S R T V I R Y E L N T E T V K A E K E I p.360
. . . . . . g.21334
CCTGGAGCTGGCTACCACGGACAGTTCCCGTATTCTTGGGGTGGCTACACGGACATTGAC c.1140
P G A G Y H G Q F P Y S W G G Y T D I D p.380
. . . . . . g.21394
TTGGCTGTGGATGAAGCAGGCCTCTGGGTCATTTACAGCACCGATGAGGCCAAAGGTGCC c.1200
L A V D E A G L W V I Y S T D E A K G A p.400
. . . . . . g.21454
ATTGTCCTCTCCAAACTGAACCCAGAGAATCTGGAACTCGAACAAACCTGGGAGACAAAC c.1260
I V L S K L N P E N L E L E Q T W E T N p.420
. . . . . . g.21514
ATCCGTAAGCAGTCAGTCGCCAATGCCTTCATCATCTGTGGCACCTTGTACACCGTCAGC c.1320
I R K Q S V A N A F I I C G T L Y T V S p.440
. . . . . . g.21574
AGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGC c.1380
S Y T S A D A T V N F A Y D T G T G I S p.460
. . . . . . g.21634
AAGACCCTGACCATCCCATTCAAGAACCGCTATAAGTACAGCAGCATGATTGACTACAAC c.1440
K T L T I P F K N R Y K Y S S M I D Y N p.480
. . . . . . g.21694
CCCCTGGAGAAGAAGCTCTTTGCCTGGGACAACTTGAACATGGTCACTTATGACATCAAG c.1500
P L E K K L F A W D N L N M V T Y D I K p.500
. g.21709
CTCTCCAAGATGTGA c.1515
L S K M X p.504
. . . . . . g.21769
aaagcctccaagctgtacaggcaatggcagaaggagatgctcagggctcctggggggagc c.*60
. . . . . . g.21829
aggctgaagggagagccagccagccagggcccaggcagctttgactgctttccaagtttt c.*120
. . . . . . g.21889
cattaatccagaaggatgaacatggtcaccatctaactattcaggaattgtagtctgagg c.*180
. . . . . . g.21949
gcgtagacaatttcatataataaatatcctttatcttctgtcagcatttatgggatgttt c.*240
. . . . . . g.22009
aatgacatagttcaagttttcttgtgatttggggcaaaagctgtaaggcataatagtttc c.*300
. . . . . . g.22069
ttcctgaaaaccattgctcttgcatgttacatggttaccacaagccacaataaaaagcat c.*360
. . . . . . g.22129
aacttctaaaggaagcagaatagctcctctggccagcatcgaatataagtaagatgcatt c.*420
. . . . . . g.22189
tactacagttggcttctaatgcttcagatagaatacagttgggtctcacataacccttta c.*480
. . g.22217
cattgtgaaataaaattttcttacccaa c.*508
(downstream sequence)
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