(used for variant description)
(last modified January 30, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_006772.2 in the SYNGAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016137.1, covering SYNGAP1 transcript NM_006772.2.
(upstream sequence)
. g.5015
tctcggctgccgctg c.-181
. . . . . . g.5075
ctgccgttggctcttattctcctcctcctcctcctctctcctcctctctgcttctctctg c.-121
. . . . . . g.5135
ctcctctctcctcctctctcctcctcctcctcctccacctcctcctccttctccccctct c.-61
. . . . . . g.5195
ttctccccctctttctctcttctttctcccccgtccccccgccccctccccccaggcctg c.-1
. . . . . . g.5255
ATGAGCAGGTCTCGAGCCTCCATCCATCGGGGGAGCATCCCCGCGATGTCCTATGCCCCC c.60
M S R S R A S I H R G S I P A M S Y A P p.20
| 02. . . . . . g.8460
TTCAGAG | ATGTACGGGGACCCTCTATGCACCGAACCCAATACGTTCATTCCCCGTATGAT c.120
F R D | V R G P S M H R T Q Y V H S P Y D p.40
. . . . . . g.8520
CGTCCTGGTTGGAACCCTCGGTTCTGCATCATCTCGGGGAACCAGCTGCTCATGCTGGAT c.180
R P G W N P R F C I I S G N Q L L M L D p.60
| 03 . . . . . g.10779
GAGGATGAG | ATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAA c.240
E D E | I H P L L I R D R R S E S S R N K p.80
. . . . . | 04 . g.17096
CTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATG | AATAC c.300
L L R R T V S V P V E G R P H G E H E | Y p.100
. . . . . . g.17156
CACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGT c.360
H L G R S R R K S V P G G K Q Y S M E G p.120
. . | 05. . . . g.17648
GCCCCTGCTGCGCCCTTCCGGCCCTCG | CAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCC c.420
A P A A P F R P S | Q G F L S R R L K S S p.140
. . . . . . g.17708
ATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTG c.480
I K R T K S Q P K L D R T S S F R Q I L p.160
. . | 06 . . . g.20113
CCTCGCTTCCGAAGTGCTGACCATGACCG | GGCCCGGCTGATGCAAAGCTTTAAGGAGTCA c.540
P R F R S A D H D R | A R L M Q S F K E S p.180
. . . . . . g.20173
CACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTG c.600
H S H E S L L S P S S A A E A L E L N L p.200
. . . . . . g.20233
GATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTT c.660
D E D S I I K P V H S S I L G Q E F C F p.220
| 07 . . . . . . g.20502
GAG | GTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGAC c.720
E | V T T S S G T K C F A C R S A A E R D p.240
. . . . | 08 . . g.22616
AAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAG | GACAACAGCCGCCGGGTA c.780
K W I E N L Q R A V K P N K | D N S R R V p.260
. . . . . . g.22676
GACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTAC c.840
D N V L K L W I I E A R E L P P K K R Y p.280
. . . . . . g.22736
TACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCT c.900
Y C E L C L D D M L Y A R T T S K P R S p.300
. . . . . . g.22796
GCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTC c.960
A S G D T V F W G E H F E F N N L P A V p.320
. . . . . . g.22856
CGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCA c.1020
R A L R L H L Y R D S D K K R K K D K A p.340
. . . . . . g.22916
GGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAG c.1080
G Y V G L V T V P V A T L A G R H F T E p.360
. . . . . . g.22976
CAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGA c.1140
Q W Y P V T L P T G S G G S G G M G S G p.380
. . . . . . g.23036
GGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTG c.1200
G G G G S G G G S G G K G K G G C P A V p.400
. . . . . . g.23096
CGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTT c.1260
R L K A R Y Q T M S I L P M E L Y K E F p.420
. . . . . . g.23156
GCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAAT c.1320
A E Y V T N H Y R M L C A V L E P A L N p.440
. . . . . . g.23216
GTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAG c.1380
V K G K E E V A S A L V H I L Q S T G K p.460
| 09 . . . . . . g.23403
GCCAAG | GACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAG c.1440
A K | D F L S D M A M S E V D R F M E R E p.480
. . . . . . g.23463
CACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTG c.1500
H L I F R E N T L A T K A I E E Y M R L p.500
. . . | 10 . . . g.23734
ATTGGTCAGAAATACCTCAAGGATGCCATTG | GAGAATTCATCCGTGCTCTGTATGAATCT c.1560
I G Q K Y L K D A I G | E F I R A L Y E S p.520
. . . . . . g.23794
GAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAG c.1620
E E N C E V D P I K C T A S S L A E H Q p.540
. . . . . | 11 . g.25663
GCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTG | CGTG c.1680
A N L R M C C E L A L C K V V N S H C | V p.560
. . . . . . g.25723
TTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGC c.1740
F P R E L K E V F A S W R L R C A E R G p.580
. . . . . . g.25783
CGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCA c.1800
R E D I A D R L I S A S L F L R F L C P p.600
. . . . . . g.25843
GCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCA c.1860
A I M S P S L F G L M Q E Y P D E Q T S p.620
. . . . . | 12 . g.26110
CGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAA | GTTTACC c.1920
R T L T L I A K V I Q N L A N F S K | F T p.640
. . . . . . g.26170
TCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATG c.1980
S K E D F L G F M N E F L E L E W G S M p.660
. . . . . . g.26230
CAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAG c.2040
Q Q F L Y E I S N L D T L T N S S S F E p.680
. . . . . . g.26290
GGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTG c.2100
G Y I D L G R E L S T L H A L L W E V L p.700
. | 13 . . . . . g.26556
CCCCAGCTCAGCAAG | GAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGAC c.2160
P Q L S K | E A L L K L G P L P R L L N D p.720
. . . . . . g.26616
ATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGG c.2220
I S T A L R N P N I Q R Q P S R Q S E R p.740
. . . . . . g.26676
CCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATG c.2280
P R P Q P V V L R G P S A E M Q G Y M M p.760
. | 14 . . . . | 15 . g.27823
CGGGACCTCAACAG | CTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAG | CTCT c.2340
R D L N S | S I D L Q S F M A R G L N S | S p.780
. . . . . . g.27883
ATGGACATGGCTCGCCTCCCCTCCCCAACCAAGGAAAAGCCACCCCCACCACCGCCTGGT c.2400
M D M A R L P S P T K E K P P P P P P G p.800
. . . . . . g.27943
GGTGGTAAAGACCTGTTCTATGTAAGCCGTCCACCCCTGGCCCGTTCCTCACCAGCATAC c.2460
G G K D L F Y V S R P P L A R S S P A Y p.820
. . . . . . g.28003
TGCACGAGCAGCTCGGACATCACAGAGCCAGAGCAGAAGATGCTGAGTGTCAACAAGAGT c.2520
C T S S S D I T E P E Q K M L S V N K S p.840
. . . . . . g.28063
GTGTCCATGCTGGACTTACAGGGTGATGGGCCTGGTGGCCGCCTCAACAGCAGCAGTGTT c.2580
V S M L D L Q G D G P G G R L N S S S V p.860
. . . . . . g.28123
TCGAACCTGGCGGCCGTAGGGGACCTGCTGCACTCAAGCCAGGCCTCGCTGACAGCAGCC c.2640
S N L A A V G D L L H S S Q A S L T A A p.880
. . . . . . g.28183
TTGGGGCTACGGCCTGCGCCTGCCGGACGCCTCTCCCAGGGGAGTGGCTCATCCATCACG c.2700
L G L R P A P A G R L S Q G S G S S I T p.900
. . . . . . g.28243
GCGGCTGGCATGCGCCTCAGCCAGATGGGTGTCACCACAGACGGTGTCCCTGCCCAGCAA c.2760
A A G M R L S Q M G V T T D G V P A Q Q p.920
. . . . . . g.28303
CTGCGAATCCCCCTCTCCTTCCAGAACCCTCTCTTCCACATGGCTGCTGATGGGCCAGGT c.2820
L R I P L S F Q N P L F H M A A D G P G p.940
. . . . . . g.28363
CCCCCAGGCGGCCATGGAGGGGGCGGTGGCCATGGCCCACCTTCCTCCCATCACCACCAC c.2880
P P G G H G G G G G H G P P S S H H H H p.960
. . . . . . g.28423
CACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGGGACACCTTTGCCCCATTCCAT c.2940
H H H H H H R G G E P P G D T F A P F H p.980
. . . . . . g.28483
GGCTATAGCAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCCCTGCTGCCTCCATC c.3000
G Y S K S E D L S S G V P K P P A A S I p.1000
. . . . . . g.28543
CTTCATAGCCACAGCTACAGTGATGAGTTTGGACCCTCTGGCACTGACTTCACCCGTCGG c.3060
L H S H S Y S D E F G P S G T D F T R R p.1020
. . . . . . g.28603
CAGCTTTCACTCCAGGACAACCTGCAGCACATGCTGTCCCCTCCCCAGATCACCATTGGT c.3120
Q L S L Q D N L Q H M L S P P Q I T I G p.1040
. . . . . . g.28663
CCCCAGAGGCCAGCCCCCTCAGGGCCTGGAGGTGGGAGCGGTGGGGGCAGCGGTGGGGGT c.3180
P Q R P A P S G P G G G S G G G S G G G p.1060
. . . . . . g.28723
GGCGGGGGCCAGCCGCCTCCATTGCAGAGGGGCAAGTCTCAGCAGTTGACAGTCAGCGCA c.3240
G G G Q P P P L Q R G K S Q Q L T V S A p.1080
. . . . . . g.28783
GCCCAGAAACCCCGGCCATCCAGCGGGAATCTATTGCAGTCCCCAGAGCCAAGTTATGGC c.3300
A Q K P R P S S G N L L Q S P E P S Y G p.1100
. . . . . . g.28843
CCCGCCCGTCCACGGCAACAGAGCCTCAGCAAGGAGGGCAGCATTGGGGGCAGCGGGGGC c.3360
P A R P R Q Q S L S K E G S I G G S G G p.1120
. . . . | 16 . g.29386
AGCGGTGGCGGAGGGGGTGGGGGGCTGAAGCCCTCCATCACCAAGCAG | CATTCTCAGACA c.3420
S G G G G G G G L K P S I T K Q | H S Q T p.1140
. . . . . . g.29446
CCATCCACATTGAACCCCACAATGCCAGCCTCTGAGCGGACAGTGGCCTGGGTCTCCAAC c.3480
P S T L N P T M P A S E R T V A W V S N p.1160
. . . . . . g.29506
ATGCCTCACCTGTCGGCTGACATCGAGAGTGCCCACATCGAGCGGGAAGAGTACAAGCTC c.3540
M P H L S A D I E S A H I E R E E Y K L p.1180
. . . . | 17 . . g.31523
AAGGAGTACTCAAAATCGATGGATGAGAGCCGGCTGGATAGG | GTGAAGGAGTACGAGGAG c.3600
K E Y S K S M D E S R L D R | V K E Y E E p.1200
. . . . . . g.31583
GAGATTCACTCACTGAAAGAGCGGCTGCACATGTCCAACCGGAAGCTGGAAGAGTATGAG c.3660
E I H S L K E R L H M S N R K L E E Y E p.1220
. . . . . . g.31643
CGGAGGCTGCTGTCCCAGGAAGAACAAACCAGCAAAATCCTGATGCAGTATCAGGCCCGA c.3720
R R L L S Q E E Q T S K I L M Q Y Q A R p.1240
. . . . . . g.31703
CTGGAGCAGAGTGAGAAGAGGCTAAGGCAGCAGCAGGCAGAGAAGGATTCCCAGATCAAG c.3780
L E Q S E K R L R Q Q Q A E K D S Q I K p.1260
. | 18 . . . . . g.32819
AGCATCATTGGCAG | GCTGATGCTGGTGGAGGAGGAGCTGCGCCGGGACCACCCCGCCATG c.3840
S I I G R | L M L V E E E L R R D H P A M p.1280
. . . . | 19 . . g.36705
GCTGAGCCGCTGCCAGAACCCAAGAAGAGGCTGCTCGACGCTCAG | GAGAGGCAGCTTCCC c.3900
A E P L P E P K K R L L D A Q | E R Q L P p.1300
. . . . . . g.36765
CCCTTGGGTCCAACAAACCCGCGTGTGACGCTGGCCCCACCGTGGAATGGCCTGGCCCCC c.3960
P L G P T N P R V T L A P P W N G L A P p.1320
. . . . . . g.36825
CCAGCCCCACCACCCCCACCCCGGCTGCAGATTACGGAGAACGGCGAGTTCCGAAACACC c.4020
P A P P P P P R L Q I T E N G E F R N T p.1340
. g.36837
GCAGACCACTAG c.4032
A D H X p.1343
. . . . . . g.36897
cccacccagcatcagagaccttctcttcctttcctgtgcaccccaccctgtaacagcacc c.*60
. . . . . . g.36957
aaccaccaggattggacatcaccgaggaacagcgggattgcctccccgaatgcctccctg c.*120
. . . . . . g.37017
ggaggcacactgattgcccacccccaccactgcaccatttccaggagggagagtggggac c.*180
. . . . . . g.37077
cctcagccgcccccttttccttcccattggggtgctgccctctctttgacccccagggac c.*240
. . . . . . g.37137
ccttgccccaggacaccgcctaccccgtacagaccccttcactccggggtgctatcccca c.*300
. . . . . . g.37197
tcctctgcctcatcgttcccctgagcactgggggacagaccctcacccccaccctggggg c.*360
. . . . . . g.37257
tgtggcacctccaaactttcaacttcagggtgatttttttagcagtaaccagagctgaca c.*420
. . . . . . g.37317
atctaactcccctccaccgccccattttggcctcccctgccccccttgttatggggaggg c.*480
. . . . . . g.37377
gaccccgggtgagggggccctattaccccttgatttctcaggagcgtctgggggggctca c.*540
. . . . . . g.37437
gcacgcacaaactccttctccttctaccactcttaaatttactccctccccacccagaac c.*600
. . . . . . g.37497
ccagatggggtggagggggccaccggggcagggagggggcggcaaggggggaatgggagt c.*660
. . . . . . g.37557
tgtctccccttctccccacacctgatctgctctcggctggtcccagagcggggtgagggg c.*720
. . . . . . g.37617
gcttatgcccccccctcccccagtgtgttgggtggggtggaattgaggttagggtgaggg c.*780
. . . . . . g.37677
gtcagggtttaggagggtgtgtatgttgggaggacaggctagttgatctgtcctactctg c.*840
. . . . . . g.37737
acacacagtcccctctgccccttccttctctcttcttggtctctactcccagggggaggg c.*900
. . . . . . g.37797
gggaacttactctaggaaaagccatgtctctctcccccagggtggggggacctgtgttgg c.*960
. . . . . . g.37857
aggaggggtgttggggggcccccttccatgactctgtcccctgggggaggtaggacaggg c.*1020
. . . . . . g.37917
ctgggcttccctctcatcctccccctcccaatctccttccacctccctccctcccgccag c.*1080
. . . . . . g.37977
ctccacgatttttcggtgtttctctgtacatagttttctggcgggataggggaggtagga c.*1140
. . . . . . g.38037
tggatggggtttggggtgggtaggccatgggaggggagaagcccctccttggcaccccct c.*1200
. . . . . . g.38097
cttccctgactgctgtcccctacccagccttgcccccttcatccttttgcgtttggtatt c.*1260
. . . . . . g.38157
gagactctcctagactctactcctctttcttttgtatggacagttccccttcagtcccat c.*1320
. . . . . . g.38217
ccccctacacatacacccagccggggccaaatttatacttatataaaagttgtaaatatg c.*1380
. . . . . . g.38277
tgaaattttatccctgtgccctttccccacctcaggccctacccctggaccctccccaac c.*1440
. . . . . . g.38337
cttccttctctcttctttggctgttgtaattatctggggtttgtactgtacatatccggg c.*1500
. . . . . . g.38397
gtgtgtgtgtgtgggctgggggcaacccttctgtacagagcttcctggccccctcccccc c.*1560
. . . . . . g.38457
ccgcccctctgcttccctccccacccaccacctcaagggtagggagttgctcttcctacc c.*1620
. . . . . . g.38517
tgttttattttgttttctcgttctccctccccaccccactcccagccttatctatccccc c.*1680
. . . . . . g.38577
ctcactgtccccttttctccactcccagccccatttcctttttttctggagtgtgtggtg c.*1740
. . . . g.38620
aaacagaaaaaaacatgtttaataaacggagattgttctttta c.*1783
(downstream sequence)
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