(used for variant description)
(last modified July 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006950.3 in the SYN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008437.1, covering SYN1 transcript NM_006950.3.
(upstream sequence)
g.5009
agtctgcgg c.-121
. . . . . . g.5069
tgggcagcggaggagtcgtgtcgtgcctgagagcgcagctgtgctcctgggcaccgcgca c.-61
. . . . . . g.5129
gtccgcccccgcggctcctggccagaccacccctaggaccccctgccccaagtcgcagcc c.-1
. . . . . . g.5189
ATGAACTACCTGCGGCGCCGCCTGTCGGACAGCAACTTTATGGCCAATCTGCCAAATGGG c.60
M N Y L R R R L S D S N F M A N L P N G p.20
. . . . . . g.5249
TACATGACAGACCTGCAGCGTCCGCAGCCGCCCCCACCGCCGCCCGGTGCCCACAGCCCC c.120
Y M T D L Q R P Q P P P P P P G A H S P p.40
. . . . . . g.5309
GGAGCCACGCCCGGTCCCGGGACCGCCACTGCCGAGAGGTCCTCCGGGGTCGCCCCAGCG c.180
G A T P G P G T A T A E R S S G V A P A p.60
. . . . . . g.5369
GCCTCTCCGGCCGCCCCTAGCCCCGGGTCCTCGGGGGGCGGTGGCTTCTTCTCGTCGCTG c.240
A S P A A P S P G S S G G G G F F S S L p.80
. . . . . . g.5429
TCCAACGCGGTCAAGCAGACCACGGCGGCGGCAGCTGCCACCTTCAGCGAGCAGGTGGGC c.300
S N A V K Q T T A A A A A T F S E Q V G p.100
. . . . . . g.5489
GGCGGCTCTGGGGGCGCAGGCCGCGGGGGAGCCGCCTCCAGGGTGCTGCTGGTCATCGAC c.360
G G S G G A G R G G A A S R V L L V I D p.120
. | 02. . . . . g.17702
GAGCCGCACACCGACTG | GGCAAAATACTTCAAAGGGAAAAAGATCCATGGAGAAATTGAC c.420
E P H T D W | A K Y F K G K K I H G E I D p.140
. | 03 . . . . . g.17866
ATTAAAGTAGAACAG | GCCGAATTCTCTGATCTCAACCTTGTGGCCCATGCCAATGGTGGA c.480
I K V E Q | A E F S D L N L V A H A N G G p.160
. . . . | 04. . g.19491
TTCTCTGTGGATATGGAAGTTCTTCGGAATGGGGTGAAGGTCGTGCG | GTCTCTGAAGCCG c.540
F S V D M E V L R N G V K V V R | S L K P p.180
. . . . . . g.19551
GATTTTGTGCTGATCCGCCAGCACGCCTTCAGCATGGCACGCAACGGAGACTACCGCAGT c.600
D F V L I R Q H A F S M A R N G D Y R S p.200
. . . . . . g.19611
TTGGTCATTGGGCTGCAGTATGCTGGAATCCCCAGTGTTAACTCCTTGCATTCTGTCTAC c.660
L V I G L Q Y A G I P S V N S L H S V Y p.220
. . | 05 . . . . g.19826
AACTTCTGTGACAAGCCCTGGGTG | TTTGCCCAGATGGTTCGACTGCATAAGAAACTGGGG c.720
N F C D K P W V | F A Q M V R L H K K L G p.240
. . . . . | 06 . g.47362
ACAGAAGAATTCCCTCTAATTGATCAGACCTTCTACCCCAATCACAAAGAAATG | CTCAGC c.780
T E E F P L I D Q T F Y P N H K E M | L S p.260
. . . . . | 07. g.48220
AGTACAACGTACCCCGTGGTTGTGAAGATGGGGCACGCACACTCTGGGATGGGCAAG | GTC c.840
S T T Y P V V V K M G H A H S G M G K | V p.280
. . . . . . g.48280
AAGGTTGACAACCAGCATGACTTCCAGGACATCGCAAGTGTCGTGGCACTGACCAAGACG c.900
K V D N Q H D F Q D I A S V V A L T K T p.300
. . . . . . g.48340
TATGCCACTGCCGAGCCCTTCATCGATGCCAAATATGACGTGCGTGTCCAGAAGATTGGG c.960
Y A T A E P F I D A K Y D V R V Q K I G p.320
. . | 08 . . . . g.48491
CAGAACTACAAGGCCTACAT | GAGGACGTCAGTGTCAGGGAACTGGAAGACCAATACTGGC c.1020
Q N Y K A Y M | R T S V S G N W K T N T G p.340
. . . | 09 . . . g.48649
TCTGCGATGCTGGAGCAAATTGCCATGTCTGACAG | ATACAAGCTGTGGGTGGACACGTGC c.1080
S A M L E Q I A M S D R | Y K L W V D T C p.360
. . . . . . g.48709
TCAGAGATTTTTGGGGGACTGGACATCTGCGCAGTGGAAGCGCTACATGGCAAGGACGGA c.1140
S E I F G G L D I C A V E A L H G K D G p.380
. | 10 . . . . g.49625
AGGGATCACATCATTGAG | GTGGTGGGTTCCTCCATGCCGCTCATTGGTGACCACCAGGAT c.1200
R D H I I E | V V G S S M P L I G D H Q D p.400
. . . . . . g.49685
GAAGACAAACAGCTCATCGTAGAGCTCGTGGTCAACAAGATGGCTCAGGCCCTGCCCCGG c.1260
E D K Q L I V E L V V N K M A Q A L P R p.420
. . . . | 11 . . g.50097
CAGCGACAGCGGGATGCCTCCCCTGGCAGGGGCTCCCATGGCCAG | ACTCCGTCCCCAGGG c.1320
Q R Q R D A S P G R G S H G Q | T P S P G p.440
. . . . . . g.50157
GCCCTGCCCTTGGGCCGCCAGACCTCCCAGCAGCCCGCAGGGCCCCCGGCTCAGCAGCGA c.1380
A L P L G R Q T S Q Q P A G P P A Q Q R p.460
. | 12 . . . . . g.50314
CCCCCACCACAGG | GCGGCCCTCCACAGCCGGGTCCAGGCCCCCAGCGCCAGGGACCCCCA c.1440
P P P Q G | G P P Q P G P G P Q R Q G P P p.480
. . . . . . g.50374
TTGCAGCAGCGCCCGCCCCCGCAGGGCCAGCAGCACCTTTCAGGCCTTGGACCCCCAGCT c.1500
L Q Q R P P P Q G Q Q H L S G L G P P A p.500
. . . . . . g.50434
GGCAGCCCCCTGCCCCAGCGCCTTCCAAGTCCCACCTCAGCGCCCCAGCAGCCCGCGTCC c.1560
G S P L P Q R L P S P T S A P Q Q P A S p.520
. . . . . . g.50494
CAGGCCGCGCCGCCGACCCAGGGTCAAGGCCGCCAATCCCGGCCAGTGGCGGGAGGCCCC c.1620
Q A A P P T Q G Q G R Q S R P V A G G P p.540
. . . . . . g.50554
GGGGCGCCTCCAGCAGCCCGCCCGCCCGCCTCTCCGTCTCCCCAGCGCCAGGCGGGCCCC c.1680
G A P P A A R P P A S P S P Q R Q A G P p.560
. . . . . . g.50614
CCACAGGCTACCCGTCAGACATCCGTCTCTGGCCCGGCTCCGCCAAAGGCCTCTGGGGCC c.1740
P Q A T R Q T S V S G P A P P K A S G A p.580
. . . . . . g.50674
CCACCGGGCGGGCAGCAGCGCCAGGGCCCGCCCCAGAAACCCCCAGGCCCAGCCGGCCCC c.1800
P P G G Q Q R Q G P P Q K P P G P A G P p.600
. . . . . . g.50734
ACACGCCAGGCCAGCCAGGCGGGTCCCGTGCCCCGCACTGGGCCACCCACCACGCAGCAG c.1860
T R Q A S Q A G P V P R T G P P T T Q Q p.620
. . . . . . g.50794
CCTCGGCCCAGCGGCCCGGGCCCCGCTGGACGTCCCAAACCACAGCTGGCCCAGAAACCC c.1920
P R P S G P G P A G R P K P Q L A Q K P p.640
. . . . . . g.50854
AGCCAGGACGTGCCGCCACCCGCCACCGCCGCTGCAGGGGGACCTCCGCACCCCCAGCTC c.1980
S Q D V P P P A T A A A G G P P H P Q L p.660
| 13 . . . . . . g.51916
AA | CAAATCCCAGTCTCTGACCAATGCCTTCAACCTTCCAGAGCCAGCCCCGCCCAGGCCC c.2040
N | K S Q S L T N A F N L P E P A P P R P p.680
. . . . . . g.51976
AGCCTTAGCCAGGACGAGGTGAAAGCTGAGACCATCCGCAGCCTGAGGAAGTCTTTCGCC c.2100
S L S Q D E V K A E T I R S L R K S F A p.700
. g.51994
AGCCTCTTCTCCGACTGA c.2118
S L F S D X p.705
. . . . . . g.52054
taccccactctgagaaccccaaaatccctgggcaacccttctctgggccctgaatccatt c.*60
. . . . . . g.52114
tctcacttttggagtctccaaatcccttgagaacccatctcccggttctccaagattcca c.*120
. . . . . . g.52174
cctctcattcctcaagatccccgagtaccttgagaaacctgactcctcctggccctaaat c.*180
. . . . . . g.52234
ccggttctcacatgtggaatccccaagtccttttagaaccccactcgtggtcacttcagg c.*240
. . . . . . g.52294
atctacttctgttttagaacctccacattcctgaagacctccgcccctggtttccccaga c.*300
. . . . . . g.52354
gggcgttttccttcctggaagtgcccaaataccaggcaacccattgcagaatcccttcct c.*360
. . . . . . g.52414
ggagccctgaagttcctggaaaaccctatttttggtcccaaatctctccagcacacctat c.*420
. . . . . . g.52474
ttcccatcataattttccaaatcctcaagaaacccctactgttgagccccttcccatgga c.*480
. . . . . . g.52534
tcttccatccctctgaagatccacatcttcaaatgccacccaacacctagccccacaagg c.*540
. . . . . . g.52594
atttcccttcaccagctcccctcaacctcattcaataccttgggagcccctcccacttcc c.*600
. . . . . . g.52654
aggacccctcggttcccccagggaccccctccccagtttcctgcctctgacagctgtctt c.*660
. . . . . . g.52714
taaatatgcaaactccacccatcttcccagaatcctttgcacacggaaggccagtggtct c.*720
. . . . . . g.52774
ccgcttccccacctttgctgtggtgtctgtgtctgtgactgacgtggcctccttttgtgc c.*780
. . . . . . g.52834
cgtgcttggcatatgtggtcctcgttcatcgtgccgcctgtggtgatgcgtgcagtgacg c.*840
. . . . . . g.52894
ctgtttatgtggtccgcacctccccctgaccttcactccttgcctggactcaccccaccc c.*900
. . . . . . g.52954
ctcagcggctctgaaccccaagagaagagtcgggaaacaaaataaacaagcaaaggccca c.*960
g.52957
gca c.*963
(downstream sequence)
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