(used for variant description)
(last modified September 21, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005639.2 in the SYT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering SYT1 transcript NM_005639.2.
(upstream sequence)
. . . . . g.5733
caatcaggatgctggggctcggagatgatgggcggccgcctcctcactggagggatt c.-601
. . . . . . g.5793
cctggagaagctgcagtgtggggatgctctagaccgagtactgcccccagtgtctttcca c.-541
. . . . . . g.5853
cctcctcctgcagcagcggcagcggcagcagcagttagcagcggcaacttgaggctgcac c.-481
. . . . . . g.5913
cccgggcaagtccccagggtggtgctcagccgagaggggggcttggcgccccgaaggggt c.-421
. . . . . . g.5973
gtgtgtagggtgggggcgaccacgtgggaccagctggtggccctggaaaacctcccacac c.-361
. . . . . . g.6033
acccacacccacacaccccttttgtgttgcaggctgcccctccaagagcggaggcagcga c.-301
. . . . . . g.6093
gagtacgcgtgtgcctcgcgccggtccacgcggggagagcactggggaccgagacccggc c.-241
. . . | 02 . . . g.118842
accacctcccggtccgccctccag | ggaaaacgggaaaactagcaagagctagcaagaact c.-181
. . . . . . g.118902
agcaagagcttgaacaaacgcctggactcagattggaagactgctcatttgtctactgcc c.-121
. . . . | 03 . . g.188327
tcattcctggaaattgcactggaactgtctgattaag | aaaaacagaataattctgaaaga c.-61
. . . . . | 04 . g.358527
aagaaaacaaagaaaaacatactccagaattcctaatagaaca | cttcacctgaacctaaa c.-1
. . . . . . g.358587
ATGGTGAGCGAGAGTCACCATGAGGCCCTGGCAGCCCCGCCTGTCACCACTGTCGCGACT c.60
M V S E S H H E A L A A P P V T T V A T p.20
. . . . . . g.358647
GTTCTGCCAAGCAACGCCACAGAGCCAGCCAGTCCTGGAGAAGGAAAGGAAGATGCATTT c.120
V L P S N A T E P A S P G E G K E D A F p.40
. . . . | 05 . . g.426808
TCTAAGCTGAAGGAGAAGTTTATGAATGAGTTGCATAAAATTCCAT | TGCCACCGTGGGCC c.180
S K L K E K F M N E L H K I P L | P P W A p.60
. . . . . . g.426868
TTAATTGCAATAGCCATAGTCGCAGTCCTTTTAGTCCTGACCTGCTGCTTTTGTATCTGT c.240
L I A I A I V A V L L V L T C C F C I C p.80
. . . . . . g.426928
AAGAAATGTTTGTTCAAAAAGAAAAACAAGAAGAAGGGAAAGGAAAAAGGAGGGAAGAAT c.300
K K C L F K K K N K K K G K E K G G K N p.100
. . . . . | 06 . g.433024
GCCATTAACATGAAAGATGTAAAAGACTTAGGGAAGACGATGAAAGATCAG | GCCCTCAAG c.360
A I N M K D V K D L G K T M K D Q | A L K p.120
. . . . . . g.433084
GATGATGATGCTGAAACTGGATTGACAGATGGAGAAGAAAAAGAAGAACCCAAAGAAGAG c.420
D D D A E T G L T D G E E K E E P K E E p.140
. . . . . | 07 . g.437082
GAGAAACTGGGAAAACTTCAGTATTCACTGGATTATGATTTCCAAAATAACCAG | CTGCTG c.480
E K L G K L Q Y S L D Y D F Q N N Q | L L p.160
. . . . . . g.437142
GTAGGGATCATTCAGGCTGCCGAACTGCCCGCCTTGGACATGGGGGGCACATCTGATCCT c.540
V G I I Q A A E L P A L D M G G T S D P p.180
. . . . . . g.437202
TACGTGAAAGTGTTTCTGCTACCTGATAAGAAGAAGAAATTTGAGACAAAAGTCCACCGA c.600
Y V K V F L L P D K K K K F E T K V H R p.200
. . . . | 08 . . g.440409
AAAACCCTTAATCCTGTCTTCAATGAGCAATTTACTTTCAAG | GTACCATACTCGGAATTG c.660
K T L N P V F N E Q F T F K | V P Y S E L p.220
. . . . . . g.440469
GGTGGCAAAACCCTAGTGATGGCTGTATATGATTTTGATCGTTTCTCTAAGCATGACATC c.720
G G K T L V M A V Y D F D R F S K H D I p.240
. . . . . . g.440529
ATTGGAGAATTTAAAGTCCCTATGAACACAGTGGATTTTGGCCATGTAACTGAGGAATGG c.780
I G E F K V P M N T V D F G H V T E E W p.260
. . . | 09 . . . g.494539
CGTGACCTGCAAAGTGCTGAGAAGGAAGAG | CAAGAGAAATTGGGTGATATCTGCTTCTCC c.840
R D L Q S A E K E E | Q E K L G D I C F S p.280
. . . . . . g.494599
CTTCGCTACGTACCTACTGCTGGTAAGCTGACTGTTGTCATTCTGGAGGCAAAGAACCTG c.900
L R Y V P T A G K L T V V I L E A K N L p.300
. . | 10 . . . g.585112
AAGAAGATGGATGTGGGTGGCTTATCCG | ATCCTTATGTGAAGATTCATCTGATGCAGAAT c.960
K K M D V G G L S D | P Y V K I H L M Q N p.320
. . . . . . g.585172
GGTAAGAGGCTGAAGAAGAAAAAGACAACAATTAAAAAGAACACACTTAACCCCTACTAC c.1020
G K R L K K K K T T I K K N T L N P Y Y p.340
. . . . | 11 . . g.589943
AATGAGTCATTCAGCTTTGAAGTACCTTTTGAACAAATCCAG | AAAGTGCAGGTGGTGGTA c.1080
N E S F S F E V P F E Q I Q | K V Q V V V p.360
. . . . . . g.590003
ACTGTTTTGGACTATGACAAGATTGGCAAGAACGATGCCATCGGCAAAGTCTTTGTGGGC c.1140
T V L D Y D K I G K N D A I G K V F V G p.380
. . . . . . g.590063
TACAACAGCACCGGCGCGGAGCTGCGACACTGGTCAGACATGCTGGCCAACCCCAGGCGA c.1200
Y N S T G A E L R H W S D M L A N P R R p.400
. . . . . . g.590123
CCTATTGCCCAGTGGCACACCCTGCAGGTAGAGGAGGAAGTTGATGCCATGCTGGCCGTC c.1260
P I A Q W H T L Q V E E E V D A M L A V p.420
g.590132
AAGAAGTAA c.1269
K K X p.422
. . . . . . g.590192
aggaaagaagaagcctttctgcatttgcccatatagtgctctttagccagtatctgtaaa c.*60
. . . . . . g.590252
tacctcagtaatatgggtcctttcatttttccagccatgcattcctaacacaattcagtg c.*120
. . . . . . g.590312
gtacttggaatcctgttttaatttgcacaaatttaaatgtagagagcccctaagtccttc c.*180
. . . . . . g.590372
atcataccactgccctccaaatctactcttcttttaagcaatatgatgtgtagatagagc c.*240
. . . . . . g.590432
atgaatgaaattatttattgtatcacactgttgtatataccagtatgctaaagatttatt c.*300
. . . . . . g.590492
tctagtttgtgtatttgtatgttgtaagcgtttcctaatctgtgtatatctagatgtttt c.*360
. . . . . . g.590552
taataagatgttctattttaaactatgtaaattgactgagatataggagagctgataata c.*420
. . . . . . g.590612
tattatacggtaaatatagtatcgtctgcattccagcaaaaatatcaactcgtaaggcac c.*480
. . . . . . g.590672
tagtacagttaaactgacatcttaaaggacaacttaaacctgagctttctattgaatcat c.*540
. . . . . . g.590732
ttgagtaccaagataaacttacaccacatacttggtgggtgaatccaattttgtagaatt c.*600
. . . . . . g.590792
cctacacaggcaaaatagcatgatctgagcagcagcatccaggctgacctcaaggaagca c.*660
. . . . . . g.590852
tagccacaaaacagaatagcacctgtctgtacatatttacaaagctaaaataatggcttc c.*720
. . . . . . g.590912
actcttatatttgaggaagcaactgaacaggagtcaatgatttcatattactgcatatag c.*780
. . . . . . g.590972
aataacaacaaggtgttccgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgcacatt c.*840
. . . . . . g.591032
tgtttggggatgggggagaagaagctaaggggagaagtcaacatttatgaaatattgcct c.*900
. . . . . . g.591092
gactatttaaaaagaaaaaagtagctctccattatcacctttatacaaaatgtacatcct c.*960
. . . . . . g.591152
gtgaattctgttccagatttcacacctacaataattccaaaaggtttgcacattagagtt c.*1020
. . . . . . g.591212
tgtaacaaaatattttattatataaaaccaggttagaaggaatgcaggatatttttaaca c.*1080
. . . . . . g.591272
caacaatctgtgcttattacacaaaattactttgtggtaaacagacagtattgtaatccc c.*1140
. . . . . . g.591332
atcaaaagatgaaagaaaaacaaaaacaaaaaccaacaacaattagccatagttctgaat c.*1200
. . . . . . g.591392
gcacttcaattaagccaaaacagacagctagtgatctttttatatgctctttttacttaa c.*1260
. . . . . . g.591452
gttttaatttgtcctttaaaaaaaggtgaaacaaaccaagaacaagttctagaaaactga c.*1320
. . . . . . g.591512
agcaacctcttatgtatactagatgcttgatttaggaggagtttttaaacgttttcaatg c.*1380
. . . . . . g.591572
ttattatgtagtaaatgacactattatgaagctactagtcattccataagagtcttaaag c.*1440
. . . . . . g.591632
gactgctctgtgtaacactgtgactgccgtgtgtgcttagacccgtagtttcctcagtgg c.*1500
. . . . . . g.591692
atagcactcaatttattccgtagtgatattgtaacaatactgccattcccttctactgca c.*1560
. . . . . . g.591752
ctgcccaaggtgtgtgtagcacaaacagttctcattacaaaggaccaattcagaactgaa c.*1620
. . . . . . g.591812
aagctatgcataggacaaggaagatacatagaatggggtggaacacagcattttgtcaag c.*1680
. . . . . . g.591872
cactgtgcaatattccatatttttccccactatggtagacaaccatttcgtggaagggca c.*1740
. . . . . . g.591932
gcctattatcccacactgcatctagccttttgtcccattcacttctgtgatccattttaa c.*1800
. . . . . . g.591992
tttccaggccacaagacagtagtgatgctctgaaatgaaagtttgtcttcacaaatatca c.*1860
. . . . . . g.592052
aaacaaaatggaggaaaactaagcattggcctcatgttcagtcttcaggatatcacacca c.*1920
. . . . . . g.592112
cgtcttttcaaaaactaaagagaattcaaaaagggctgatggtaggctttgaacatgggg c.*1980
. . . . . . g.592172
ttggctgtttcccagtaaaactggaattcctgtcgttactgtttccttatcaaagaaggg c.*2040
. . . . . . g.592232
gcaagctcttttgccttttaggccagacatagcaaacgctttataattggcatagacata c.*2100
. . . . . . g.592292
aaggataaaaggaaaataaccgtctgccgatggtccgtacttcttaaaaaacataggtaa c.*2160
. . . . . . g.592352
tagaaaatatacacaagtcagaatgtgaaattaaataatggtttgaacagaaaattcaaa c.*2220
. . . . . . g.592412
caagactctttccaatttaaagggccaaaccctaccaaagagagggagttgactggcttt c.*2280
. . . . . . g.592472
taaaaagtatttaaataccacaaatgacatttaatttcactgtattcagctttaagttgt c.*2340
. . . . . . g.592532
tcacaatgaaaccacactttcaaacaagcaggttcaagctgctgaatagacattatttct c.*2400
. . . . . . g.592592
tgcattaaaataccactaatgcattctcttgcaacactgccagacatgggattgtcacca c.*2460
. . . . . . g.592652
tagaattagttggtactatgccatctttcactctttcacaagtcagtgatggaacctgct c.*2520
. . . . . . g.592712
ttatgaccaagattcatcctcaaataagccacatgtacccttctgacaaagctgtgtaaa c.*2580
. . . . . . g.592772
gtattagaatctgatgctctagaaagatcctagttgcctttgtgtatatttactgcctgc c.*2640
. . . . . . g.592832
ttgagtgtttctatgtgtgggttttccctgtatcttgtagaaatgttggggtgttttcct c.*2700
. . . . . . g.592892
ctgccatatggctcgtggcctgcgagccaactatttcagctgtattttaccttcattttt c.*2760
. . . . . . g.592952
gatgaggtgatttaaattttgtttcactttgtgtagtgaattccacagtagttttctgat c.*2820
. . . . . . g.593012
tgttgttaaaaatgacttaacatattacacagatattcaataaaaatgttttatttcctg c.*2880
g.593016
ttga c.*2884
(downstream sequence)
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