(used for variant description)
(last modified May 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003179.2 in the SYP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012532.1, covering SYP transcript NM_003179.2.
(upstream sequence)
. g.5016
gccccctgcattgctg c.-1
. . . | 02 . . . g.6193
ATGCTGCTGCTGGCGGACATGGACGTGGTGAATCAG | CTGGTGGCTGGGGGTCAGTTCCGG c.60
M L L L A D M D V V N Q | L V A G G Q F R p.20
. . . . | 03 . . g.7381
GTGGTCAAGGAGCCCCTCGGCTTTGTGAAGGTGCTGCAATGG | GTCTTCGCCATCTTCGCC c.120
V V K E P L G F V K V L Q W | V F A I F A p.40
. . . . . . g.7441
TTTGCCACATGCGGCAGCTACAGTGGGGAGCTCCAGCTGAGCGTGGATTGTGCCAACAAG c.180
F A T C G S Y S G E L Q L S V D C A N K p.60
. . . . | 04. . g.10856
ACCGAGAGTGACCTCAGCATCGAGGTCGAGTTCGAGTACCCCTTCAG | GCTGCACCAAGTG c.240
T E S D L S I E V E F E Y P F R | L H Q V p.80
. . . . . . g.10916
TACTTTGATGCACCCACCTGCCGAGGGGGCACCACCAAGGTCTTCTTAGTTGGGGACTAC c.300
Y F D A P T C R G G T T K V F L V G D Y p.100
. . . . . . g.10976
TCCTCGTCAGCCGAATTCTTTGTCACCGTGGCCGTGTTTGCCTTCCTCTACTCCATGGGG c.360
S S S A E F F V T V A V F A F L Y S M G p.120
. . . . . . g.11036
GCTCTGGCCACCTACATCTTCCTGCAGAACAAGTACCGAGAGAATAACAAAGGGCCCATG c.420
A L A T Y I F L Q N K Y R E N N K G P M p.140
| 05 . . . . . . g.11798
CTG | GACTTTCTGGCCACGGCTGTGTTCGCCTTCATGTGGCTAGTTAGCTCATCGGCATGG c.480
L | D F L A T A V F A F M W L V S S S A W p.160
. . . . . . g.11858
GCCAAGGGGCTGTCAGATGTGAAGATGGCCACAGACCCAGAGAACATTATCAAGGAGATG c.540
A K G L S D V K M A T D P E N I I K E M p.180
. . . . . . g.11918
CCTGTCTGCCGCCAGACAGGGAACACATGCAAGGAGCTGAGAGACCCTGTGACCTCGGGA c.600
P V C R Q T G N T C K E L R D P V T S G p.200
. | 06 . . . . . g.13486
CTCAACACCTCGGTG | GTGTTCGGCTTCCTGAACCTGGTGCTCTGGGTCGGCAACCTGTGG c.660
L N T S V | V F G F L N L V L W V G N L W p.220
. . . . . . g.13546
TTCGTGTTTAAGGAGACAGGCTGGGCCGCCCCGTTCCTGCGCGCGCCTCCCGGCGCCCCC c.720
F V F K E T G W A A P F L R A P P G A P p.240
. . . . . . g.13606
GAGAAACAACCGGCACCCGGGGACGCCTACGGCGATGCAGGCTACGGGCAGGGCCCCGGC c.780
E K Q P A P G D A Y G D A G Y G Q G P G p.260
. . . . . . g.13666
GGGTACGGGCCCCAGGATTCCTACGGGCCTCAGGGCGGCTACCAGCCTGACTATGGTCAA c.840
G Y G P Q D S Y G P Q G G Y Q P D Y G Q p.280
. . . . . . g.13726
CCAGCCGGCAGCGGTGGCAGTGGCTACGGGCCTCAGGGCGACTATGGGCAGCAAGGCTAC c.900
P A G S G G S G Y G P Q G D Y G Q Q G Y p.300
. . . . g.13768
GGCCCGCAGGGTGCACCCACCTCCTTCTCCAATCAGATGTAG | c.943
G P Q G A P T S F S N Q M X p.313
| 07 . . . . . . g.15982
tctg | gtcagtgaagcccaggaggacctggggggggcaagagctcaggagaaggcctgccc c.*60
. . . . . . g.16042
cccttcccacccctataccctaggtctccacccctcaagccaggagaccctgtctttgct c.*120
. . . . . . g.16102
gtttatatatatatatattatatataaatatctatttatctgtctgagccctgccctcac c.*180
. . . . . . g.16162
tccactcccctcatccactaggtgcccagtcttgagtgggccccctctcttaccccgtcc c.*240
. . . . . . g.16222
ctttccctgcatcccttggcccctctctgtttaccctccctgtcccctgaggttaagggg c.*300
. . . . . . g.16282
atctaaaaggaggacagggagggaacagacctcggctgtgtggggagggtgggcgtgact c.*360
. . . . . . g.16342
tcagactctctcctctctctccctccactcctcccaactctggccttggttcctccagca c.*420
. . . . . . g.16402
atgcctgcctgaacaaaggccgttagggaaatccaactccagggttaaagaaaggcagag c.*480
. . . . . . g.16462
attgggggggcttggggtagagaggacagtttaggacccaaggtggtcttggagaggagg c.*540
. . . . . . g.16522
tgtggagtggaggggtcagcaggggggttgggttccagacagagtggatctggagtctga c.*600
. . . . . . g.16582
aggagaggagtgcgctagagcattctggggtggggcttggaagggcgctgagggcagggt c.*660
. . . . . . g.16642
tctagaaggggcgaggctttaagcgaggcagaatggtgggctccagagtaggtgggtctt c.*720
. . . . . . g.16702
ggattggtaccagagcctatggaaagggtgtggcttggaacatttgggagactgagcttg c.*780
. . . . . . g.16762
attctaaaggggacagatcttgagcaaggcaagaagtgggattcaggaatgggccaagcc c.*840
. . . . . . g.16822
agggttccagacagggtggggcttagaatggggcttccatggtggtttcagaaagggcag c.*900
. . . . . . g.16882
cccctccccatggtgcagtgaagaaaatgttttacaatggctgggtttgggcagtggaga c.*960
. . . . . . g.16942
ggggacttggataggagcttccagatgggttttgttaggggtgggggagaatggctctgg c.*1020
. . . . . . g.17002
ctacgacttgggacggaagtggcctgagaagagtcgagtgatatggcttgtagggtgagg c.*1080
. . . . . . g.17062
cgtgggatccagagagaagcaccccaccacacacacccttccccactcccgtgatgaaac c.*1140
. . . . . . g.17122
agctaggttaataggaggacagaaccaacgggtctgtgggactggcccacccctcttccc c.*1200
. . . . . . g.17182
ccttcccctgcgccctccctccctccacacctccacccgtcctggggtggttggaggcct c.*1260
. . . . . . g.17242
ggtctggagcccctatcctgcaccctctgctatgtctgtgatgtcagtagtgcctgtgat c.*1320
. . . . . . g.17302
cgtgtgttgccattttgtctggctgtggcccctccttctcccctccagacccctaccctt c.*1380
. . . . . . g.17362
tcccaaacccttcggtattgttcaaagaacccccctccccaaggaagaacaaatatgatt c.*1440
. . . g.17397
ctcctctcccaaataaactccttaaccacctagtc c.*1475
(downstream sequence)
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