(used for variant description)
(last modified June 9, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001160302.1 in the SYNJ1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030017.1, covering SYNJ1 transcript NM_001160302.1.
(upstream sequence)
g.5106
aagcc c.-121
. . . . . . g.5166
ggcggggggcggggagctgctgcggccagacccacgggcagccgggcgggcggacgcctc c.-61
. . . . | 02. . g.6145
caagaccagtctctgcctccgcagcgtcagcgggagcg | ggctgcctccgaagaaaggaga c.-1
. . . . . . g.6205
ATGGCGTTCAGTAAAGGATTCCGGATCTATCACAAATTGGATCCCCCACCTTTCAGCCTC c.60
M A F S K G F R I Y H K L D P P P F S L p.20
. . . . . . g.6265
ATAGTGGAAACTAGGCATAAGGAAGAATGTCTCATGTTCGAGTCTGGGGCTGTCGCTGTG c.120
I V E T R H K E E C L M F E S G A V A V p.40
| 03 . . . . . . g.31050
CTCT | CATCTGCAGAAAAAGAGGCAATCAAGGGTACATACTCCAAAGTACTGGATGCATAT c.180
L S | S A E K E A I K G T Y S K V L D A Y p.60
. . . | 04 . . . g.32965
GGACTCTTAGGTGTTCTGCGGTTAAATCTTG | GTGATACTATGTTACATTATCTGGTCCTA c.240
G L L G V L R L N L G | D T M L H Y L V L p.80
. . . . . . g.33025
GTCACTGGATGTATGTCTGTTGGAAAAATTCAAGAATCTGAAGTTTTCCGAGTTACTTCC c.300
V T G C M S V G K I Q E S E V F R V T S p.100
. . . . . . g.33085
ACTGAGTTTATATCACTGCGAATCGATTCTTCAGATGAGGATCGCATTTCAGAAGTGCGG c.360
T E F I S L R I D S S D E D R I S E V R p.120
. . . . . . g.33145
AAAGTTTTGAATTCAGGAAACTTTTATTTTGCATGGTCTGCATCTGGCATCAGTTTAGAT c.420
K V L N S G N F Y F A W S A S G I S L D p.140
. . . . . | 05 g.37760
TTGAGTCTTAATGCGCATCGTAGCATGCAAGAACAGACAACTGATAATAGATTTTTCTG | G c.480
L S L N A H R S M Q E Q T T D N R F F W | p.160
. . . . . . g.37820
AATCAGTCTTTGCATTTGCATCTCAAACACTATGGCGTGAATTGTGATGACTGGTTATTA c.540
N Q S L H L H L K H Y G V N C D D W L L p.180
. . . . . . g.37880
CGTCTTATGTGTGGAGGAGTAGAAATCAGAACAATTTATGCTGCTCATAAACAGGCGAAG c.600
R L M C G G V E I R T I Y A A H K Q A K p.200
. . . . . . g.37940
GCTTGCCTCATTTCAAGATTAAGCTGTGAACGAGCTGGGACCAGGTTTAATGTCCGGGGA c.660
A C L I S R L S C E R A G T R F N V R G p.220
. . . . | 06 . . g.38745
ACAAATGATGATGGTCATGTTGCCAATTTTGTAGAAACAGAACAG | GTTGTGTACTTAGAT c.720
T N D D G H V A N F V E T E Q | V V Y L D p.240
. . . . . . g.38805
GACTCAGTTTCTTCCTTCATACAAATCCGAGGATCTGTTCCATTGTTCTGGGAGCAACCA c.780
D S V S S F I Q I R G S V P L F W E Q P p.260
| 07 . . . . . g.44725
GGGTTGCAA | GTGGGATCTCATCGTGTCCGTATGTCAAGGGGATTTGAAGCCAATGCACCT c.840
G L Q | V G S H R V R M S R G F E A N A P p.280
. | 08 . . . . . g.46016
GCTTTTGACAG | GCATTTTAGAACACTTAAGAACTTATATGGTAAACAAATAATAGTAAAT c.900
A F D R | H F R T L K N L Y G K Q I I V N p.300
. . . . | 09 . g.47136
TTGCTTGGATCTAAGGAAGGTGAACATATGCTAAGTAAAGCTTTCCAG | AGTCATTTGAAA c.960
L L G S K E G E H M L S K A F Q | S H L K p.320
. . . . . . g.47196
GCTTCTGAACATGCTGCTGATATCCAGATGGTGAATTTTGACTATCATCAAATGGTTAAG c.1020
A S E H A A D I Q M V N F D Y H Q M V K p.340
. . . . . . g.47256
GGAGGAAAGGCAGAAAAATTACATAGTGTTCTTAAACCTCAAGTCCAGAAGTTTCTAGAT c.1080
G G K A E K L H S V L K P Q V Q K F L D p.360
. . . | 10 . . g.48944
TATGGATTTTTTTATTTCAATGGAAGTGAAGTTCAAAG | ATGCCAGAGTGGTACAGTTCGA c.1140
Y G F F Y F N G S E V Q R | C Q S G T V R p.380
. . . . . . g.49004
ACAAACTGCTTGGATTGTCTTGATAGAACAAATAGTGTGCAGGCATTTCTTGGCTTAGAG c.1200
T N C L D C L D R T N S V Q A F L G L E p.400
| 11 . . . . . . g.51453
| ATGCTAGCTAAACAGTTGGAAGCTCTTGGTTTAGCTGAAAAGCCTCAGTTGGTGACTCGC c.1260
| M L A K Q L E A L G L A E K P Q L V T R p.420
. . . . . . g.51513
TTTCAAGAAGTTTTTCGGTCAATGTGGTCCGTGAATGGTGATTCAATCAGTAAGATATAT c.1320
F Q E V F R S M W S V N G D S I S K I Y p.440
. . . | 12 . . . g.54267
GCAGGAACTGGAGCTCTTGAAGGGAAAGCGAAG | TTAAAAGATGGTGCTCGCTCTGTTACC c.1380
A G T G A L E G K A K | L K D G A R S V T p.460
. . . . . . g.54327
CGAACAATTCAGAATAACTTCTTTGACAGCTCCAAGCAAGAGGCCATTGATGTTTTGCTA c.1440
R T I Q N N F F D S S K Q E A I D V L L p.480
. . . . . . g.54387
CTGGGAAATACTCTGAATAGTGATTTAGCTGACAAAGCTCGAGCACTTTTAACTACTGGA c.1500
L G N T L N S D L A D K A R A L L T T G p.500
. | 13 . . | 14 . . . g.59536
AGTTTGCGTG | TTTCTGAGCAGACATTACAGTCAG | CATCTTCTAAAGTACTAAAGAGCATG c.1560
S L R V | S E Q T L Q S A | S S K V L K S M p.520
. . . . . . g.59596
TGTGAGAATTTCTACAAATATTCAAAGCCTAAGAAAATTCGAGTATGTGTCGGAACCTGG c.1620
C E N F Y K Y S K P K K I R V C V G T W p.540
. . . . . . g.59656
AATGTGAATGGTGGGAAGCAATTTCGCAGCATAGCTTTTAAGAATCAGACACTCACTGAC c.1680
N V N G G K Q F R S I A F K N Q T L T D p.560
. . . . | 15 . . g.62683
TGGCTTCTTGATGCACCCAAGTTAGCTGGCATCCAGGAGTTTCAAG | ATAAAAGAAGTAAG c.1740
W L L D A P K L A G I Q E F Q D | K R S K p.580
. . . . . . g.62743
CCAACTGATATATTTGCAATTGGTTTTGAAGAAATGGTAGAATTGAATGCTGGAAACATT c.1800
P T D I F A I G F E E M V E L N A G N I p.600
. | 16 . . . . . g.66517
GTGAGTGCAAG | CACAACAAATCAGAAGCTCTGGGCTGTAGAACTTCAGAAGACAATCTCC c.1860
V S A S | T T N Q K L W A V E L Q K T I S p.620
. . . . . . g.66577
AGAGACAACAAGTATGTGCTGCTGGCTTCTGAACAGTTGGTGGGCGTCTGTTTGTTTGTT c.1920
R D N K Y V L L A S E Q L V G V C L F V p.640
. . . | 17 . . . g.66934
TTTATCAGACCACAGCATGCTCCTTTTATCAG | GGATGTTGCAGTTGATACTGTGAAGACT c.1980
F I R P Q H A P F I R | D V A V D T V K T p.660
. . . . . . g.66994
GGAATGGGAGGTGCAACTGGAAATAAGGGAGCAGTTGCAATCCGAATGCTCTTCCATACA c.2040
G M G G A T G N K G A V A I R M L F H T p.680
. . . . . . g.67054
ACCAGCCTTTGCTTCGTCTGTAGCCACTTTGCTGCAGGGCAGTCACAAGTCAAAGAAAGA c.2100
T S L C F V C S H F A A G Q S Q V K E R p.700
. . . . | 18 . . g.67985
AATGAAGATTTTATAGAAATAGCACGAAAATTGAGTTTTCCTATG | GGAAGGATGCTATTT c.2160
N E D F I E I A R K L S F P M | G R M L F p.720
. . . . . . g.68045
TCCCATGACTATGTATTTTGGTGTGGTGATTTCAACTATCGAATCGATCTCCCTAACGAA c.2220
S H D Y V F W C G D F N Y R I D L P N E p.740
. . . . . . g.68105
GAAGTTAAAGAGCTCATAAGACAGCAAAATTGGGATTCTCTTATAGCAGGAGATCAACTT c.2280
E V K E L I R Q Q N W D S L I A G D Q L p.760
. . | 19 . . . . g.75205
ATCAATCAGAAAAATGCTGGACAG | GTTTTTAGAGGATTTTTAGAAGGAAAGGTAACCTTT c.2340
I N Q K N A G Q | V F R G F L E G K V T F p.780
. . . . . . g.75265
GCTCCGACATATAAGTATGACTTGTTTTCTGACGACTATGACACCAGTGAAAAGTGCCGC c.2400
A P T Y K Y D L F S D D Y D T S E K C R p.800
. . . . . . g.75325
ACCCCTGCCTGGACAGACCGTGTCCTTTGGAGAAGGAGGAAATGGCCTTTTGATAGATCA c.2460
T P A W T D R V L W R R R K W P F D R S p.820
| 20 . . . . . . g.75980
G | CTGAAGATCTAGATCTTCTAAATGCTAGTTTTCAAGATGAAAGCAAAATTCTGTACACG c.2520
A | E D L D L L N A S F Q D E S K I L Y T p.840
. . . . . | 21 g.76140
TGGACTCCAGGCACTTTGCTGCACTATGGAAGAGCTGAGCTGAAGACTTCTGACCACAG | G c.2580
W T P G T L L H Y G R A E L K T S D H R | p.860
. . . . . . g.76200
CCTGTCGTTGCCCTGATTGATATAGATATATTTGAAGTTGAAGCTGAAGAGAGGCAAAAC c.2640
P V V A L I D I D I F E V E A E E R Q N p.880
. . . . . . g.76260
ATTTATAAAGAAGTAATTGCAGTTCAGGGTCCACCAGATGGTACAGTATTGGTCTCAATC c.2700
I Y K E V I A V Q G P P D G T V L V S I p.900
. . . . . . g.76320
AAAAGTTCTTTACCAGAAAATAATTTTTTTGATGATGCCTTGATTGATGAGCTTCTGCAG c.2760
K S S L P E N N F F D D A L I D E L L Q p.920
. . . | 22 . . . g.79700
CAGTTTGCAAGTTTTGGTGAAGTTATACTTATAAG | ATTTGTAGAAGATAAAATGTGGGTT c.2820
Q F A S F G E V I L I R | F V E D K M W V p.940
. . . . . | 23 . g.82701
ACATTTTTGGAGGGAAGCTCTGCCTTGAATGTTCTGAGCCTAAATGGTAAAGAG | TTATTG c.2880
T F L E G S S A L N V L S L N G K E | L L p.960
. . . . . . g.82761
AATCGGACTATAACTATTGCTTTAAAAAGTCCAGACTGGATCAAAAATTTGGAAGAAGAA c.2940
N R T I T I A L K S P D W I K N L E E E p.980
. . . . . . g.82821
ATGAGTTTAGAGAAAATTAGCATTGCATTGCCATCATCAACAAGCTCTACCCTGCTTGGT c.3000
M S L E K I S I A L P S S T S S T L L G p.1000
. . . | 24. . . g.86462
GAAGATGCAGAGGTTGCAGCAGATTTTGATATGGAAG | GTGATGTTGATGACTATAGTGCT c.3060
E D A E V A A D F D M E G | D V D D Y S A p.1020
. . . . . . g.86522
GAAGTGGAGGAACTTCTTCCTCAGCATCTCCAGCCATCTTCAAGTTCCGGCCTTGGTACT c.3120
E V E E L L P Q H L Q P S S S S G L G T p.1040
. . . . . . g.86582
TCCCCCAGCTCTTCACCCCGAACTAGTCCCTGCCAGTCACCTACAATATCAGAGGGTCCT c.3180
S P S S S P R T S P C Q S P T I S E G P p.1060
. . . . . . g.86642
GTACCTTCCCTTCCCATCAGACCAAGCCGAGCACCGTCAAGAACTCCTGGGCCTCCCAGT c.3240
V P S L P I R P S R A P S R T P G P P S p.1080
| 25. . . . . . g.87305
GCACAGA | GTTCTCCTATTGACGCGCAGCCAGCAACGCCGCTGCCGCAGAAAGACCCCGCC c.3300
A Q S | S P I D A Q P A T P L P Q K D P A p.1100
. . . . . . g.87365
CAGCCCTTGGAGCCCAAGCGGCCGCCGCCGCCCCGCCCGGTCGCCCCTCCCACACGCCCG c.3360
Q P L E P K R P P P P R P V A P P T R P p.1120
. . . | 26 . . . g.88064
GCTCCCCCACAGAGACCTCCTCCGCCTTCAG | GGGCTAGGAGTCCTGCACCCACTAGAAAG c.3420
A P P Q R P P P P S G | A R S P A P T R K p.1140
. | 27 . . . | 28 . g.91086
GAATTTGGAG | CACCCAAAAGCCCTGGAACAACAAGGAAAGATAATATAG | GACGCAGTCAG c.3480
E F G A | P K S P G T T R K D N I G | R S Q p.1160
. . . . . . g.91146
CCTTCACCTCAAGCAGGACTTGCAGGCCCAGGACCTGCTGGATACAGTACAGCCAGACCG c.3540
P S P Q A G L A G P G P A G Y S T A R P p.1180
| 29 . . . . . . g.93322
| ACGATTCCTCCTCGTGCTGGAGTTATCAGTGCCCCACAGAGCCACGCGCGGGCATCTGCT c.3600
| T I P P R A G V I S A P Q S H A R A S A p.1200
. . . . | 30 . g.93927
GGAAGACTGACTCCTGAAAGCCAAAGCAAAACATCAGAAACGTCGAAAG | GTTCAACTTTC c.3660
G R L T P E S Q S K T S E T S K G | S T F p.1220
. . . . . . g.93987
CTTCCTGAACCACTGAAGCCTCAGGCTGCTTTTCCTCCGCAGTCTTCTTTGCCCCCGCCT c.3720
L P E P L K P Q A A F P P Q S S L P P P p.1240
. . . . . . g.94047
GCTCAAAGGTTGCAAGAGCCTCTTGTCCCTGTGGCAGCACCTATGCCTCAGTCTGGCCCC c.3780
A Q R L Q E P L V P V A A P M P Q S G P p.1260
. . . . . . g.94107
CAGCCAAATTTGGAAACCCCACCACAACCACCACCTCGAAGCAGGTCATCCCATAGCTTG c.3840
Q P N L E T P P Q P P P R S R S S H S L p.1280
. . | 31. . g.98190
CCTTCAGAAGCTTCCTCACAACCGCAA | CAGGAGCAACCATCAGGGTAA | c.3889
P S E A S S Q P Q | Q E Q P S G X p.1295
| 32 . . . . . . g.101309
cag | gtaaaaacaaatggaatctctgatggcaaaagagaatcaccattaaagattgaccca c.*60
. . . . . . g.101369
tttgaagatctgtcatttaatctgcttgctgtatcaaaggctcagctatctgttcaaacg c.*120
. . . . . . g.101429
tcacctgttcccaccccagacccaaagaggttgattcagttgccttctgcaacgcaaagt c.*180
. . . . . . g.101489
aatgttttgagttctgtaagttgcatgccaacaatgcctccaattccagctcggagtcaa c.*240
. . . . . . g.101549
tcccaggaaaatatgcgaagttctccaaacccatttattactggcttgaccaggacaaat c.*300
. . . . . . g.101609
cctttcagtgacaggactgctgctcctggaaacccatttagagccaagtctgaagaatca c.*360
. . . . . . g.101669
gaggcaacttcatggttctccaaagaagagcccgttactatcagtcctttcccttctctg c.*420
. . . . . . g.101729
cagcctcttggtcataacaaaagcagggcttcatcttcacttgatggctttaaggacagt c.*480
. . . . . . g.101789
tttgatctacagggccagtctacattaaaaattagcaacccgaaaggatgggtaaccttc c.*540
. . . . . . g.101849
gaggaagaagaggattttggtgtgaaagggaagtcaaagtcagcttgttcagacttactg c.*600
. . . . . . g.101909
ggtaatcagccaagttcattttctggctccaacctgacattgaatgatgactggaataaa c.*660
. . . . . . g.101969
ggtacaaatgtctccttctgtgtgttgccgtcaagaagacctcctccacctcctgtccct c.*720
. . . . . . g.102029
ctgctcccgcccggcaccagccctccagtagatcctttcacgaccttggcctctaaggct c.*780
. . . . . . g.102089
tcacccacactggactttacagaaagataacgccatgcaatagaaaacagtgggtacttg c.*840
. . . . . . g.102149
cttttggcaggatagagctaagagaattgggcattagtatttcattatgtgcaataagtc c.*900
. . . . . . g.102209
attgtaagtgcactgatatcttcacaaaacaccactatttgatgtgtacagagttggact c.*960
. . . . . . g.102269
atgtgtatattggaaataaggaaaaacccttctcattgttaactggagttttgatgtatt c.*1020
. . . . . . g.102329
tctctttggatgaataggagacagtagtagccataaaaagtacttatactttagaaaaca c.*1080
. . . . . . g.102389
gtccttattcagaaacttttcggtcagtcttctgaagaatctcaaaaagcccacccaact c.*1140
. . . . . . g.102449
ttcagctgacatttccaccagccctctcatacttgttaacaattggtatctttgagtatt c.*1200
. . . . . . g.102509
taccaaagagctgccaaggttacagtgaacagagttttgaaaggcattgctttaaaggaa c.*1260
. . . . . . g.102569
aaaagtataggtatgtgtacatatataatacatacaaacacatgtacttctgtatacatt c.*1320
. . . . . . g.102629
tacatatttttacaattcatactttaatttctaggctataactcagaccaaattatacct c.*1380
. . . . . . g.102689
aaaagttccaacaaagtccctttttcaatatcacattaccaaaaagatggctgcaaatgt c.*1440
. . . . . . g.102749
aatttggacctttcattaattttgttttcaaaactagaataatctcaccacagaatcaga c.*1500
. . . . . . g.102809
attttctaccgttccacacccaaccccttcaaatacacacaaccttgttacttttcactc c.*1560
. . . . . . g.102869
cagcaccttcatacgcttttctccaggaggaggttcttgcagctggaaacagcctatttt c.*1620
. . . . . . g.102929
gtggtcactgtcaagtggatggatattctagcgctcccaaaaaagcactatggccttata c.*1680
. . . . . . g.102989
tgcagggaaggcacataccaccaagttcaatgagaaatattagagctaaccgtactctct c.*1740
. . . . . . g.103049
tctctgcgtacgttcgagtatacgttgcccatatccctcccatattttctttttgctgct c.*1800
. . . . . . g.103109
tttgctctggaactttgcttttagcagggaaagcagctgtcccctgagtgctttgaattg c.*1860
. . . . . . g.103169
ggaatatacccagtgtgtgttctcccccctcttacgaggctacataacacatctatgatg c.*1920
. . . . . . g.103229
ctgctttaagtttttagaggctatacctcaaagtagctgcggattttgtctcctgcactg c.*1980
. . . . . . g.103289
ccaatatgcaactgatcccgcttttattaattttttgaagaagtacacagaatttttaca c.*2040
. . . . . . g.103349
gaatgtagtattttgatatcattaagtaaaccaatcagaaaactccttgagcaatagttg c.*2100
. . . . . . g.103409
tttctttgtcagtttcagttacaatcatctttacccattaagacttacattaacattcct c.*2160
. . . . . . g.103469
tttatataaagagttgtatatgtccacctaaattcctatgtccacacttaacctttaaag c.*2220
. . . . . . g.103529
atgtacattgagggaatatcaaaaaatagcgttcatggctacgaatatgtagaatgttaa c.*2280
. . . . . . g.103589
aagcacagcaaactgcactgcacttataaagcaaatctattagaaaaaaagcatttttct c.*2340
. . . . . . g.103649
aaatgctcaaatgttatcaaaatactatatttatagaagtaatcttctctgttaacagcc c.*2400
. . . . . . g.103709
aagatttgctgttagaaataactcttgtgagttttatattgtgctttttggaggttctaa c.*2460
. . . . . . g.103769
tcatttcagcagtagcgtcttaaacagcagtattactataagcagttgcttcaaaatgtg c.*2520
. . . . . . g.103829
aattaacttgttgaaactgtggctttaacatccatgtgactagtgtatatggtatttgct c.*2580
. . . . . . g.103889
ctccattagcaaaataattcattgttaggtaaacttcactagtgcaaattgcagatctgt c.*2640
. . . . . . g.103949
gagcaatgtttcctattgaatataaactactgtctaaaatatacatatcagcagcccagc c.*2700
. . . . . . g.104009
ctttatcaggaaaattatacttggcaagttgctgaaaatgcacaaagttatgaaagttaa c.*2760
. . . . . . g.104069
aggtatgctgcaaataactagccattattctatgtattattaaatatttactagttctgt c.*2820
. . . . . . g.104129
taaaagcagagcagaagttagacactaaggatctctttgtgaactctgtgttctctatat c.*2880
. . . . . . g.104189
tagattgctgtttatatgtaagaattttattgcttatgtggcatacaatatttataacta c.*2940
. . . . . . g.104249
taaactttatagaagtacagtattaaagtcagtggtacacagacattctgtacatatcct c.*3000
. . . . g.104295
gtgaaacgtgctgtcatatgaaataaatatatctgtctttaccatg c.*3046
(downstream sequence)
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