(used for variant description)
(last modified August 14, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_138736.2 in the GNAO1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering GNAO1 transcript NM_138736.2.
(upstream sequence)
. . . . . g.5057
gctgacgtcagctggcggcccgcggagccgggtgcgcagagccgctggcgcactcgc c.-841
. . . . . . g.5117
gcgctgcgctggcctcctccccgccccgggcccaggcgcgcgcgcgcttgttcgctctcc c.-781
. . . . . . g.5177
cattttttttttcccctccctccctgcctctctctctctccctctccctcgagctcccgg c.-721
. . . . . . g.5237
ctggctgcggctccctggcgctctccctctctctccggtaggctcaccgagcgatgcgag c.-661
. . . . . . g.5297
ctctgggagacagcgacgccgcctcccgctagagacctgcccctcggcccggccccctgc c.-601
. . . . . . g.5357
ccaaccctgcccagcgcgcgggggtcggcgaaggcgccgcggacgcaccgacggctgaag c.-541
. . . . . . g.5417
agcggcgatgcacatgcactagcagcaccccctaactcactccctccacatcccgcgccg c.-481
. . . . . . g.5477
ccgccgccgcctcctccacctcctcctccgccgccgccgcctcctcctcctccggcagcc c.-421
. . . . . . g.5537
gcggcagcaggacccaccctgccccccaccccaccctctgtcggctccggctgcggctcc c.-361
. . . . . . g.5597
agcctcgactattattttatttattttgggtcgtgcacaagcctcagtgcctgcagtccg c.-301
. . . . . . g.5657
cgcctcctcggcccgcgggcgcctcctcccttggctccggagccccagaccccggccacc c.-241
. . . . . . g.5717
ctcgattcgacaaccccagacccctgccagctgccgcgagtctccgctgctggaatcttg c.-181
. . . . . . g.5777
ttagcggctgtctttttggagggttctggtttcccgacatttttgtttccagcccaggag c.-121
. . . . . . g.5837
aggatatcgtgattttccccccttgagcccaggctctgctctctgggggggtggggggcg c.-61
. . . . . . g.5897
ctccaagccggggagccgtgccagccgagtcgtgcgggctgtggcagggaaggggccacc c.-1
. . . . . . g.5957
ATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAG c.60
M G C T L S A E E R A A L E R S K A I E p.20
. . . . . | 02 g.6237
AAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCG | GG c.120
K N L K E D G I S A A K D V K L L L L G | p.40
. . . . | 03 . . g.89611
GCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAA | GATCATCCATGAAGATGGC c.180
A G E S G K S T I V K Q M K | I I H E D G p.60
. . . . . . g.89671
TTCTCCGGAGAAGACGTGAAACAGTACAAGCCTGTTGTCTACAGCAACACTATCCAGTCC c.240
F S G E D V K Q Y K P V V Y S N T I Q S p.80
. . . . . . g.89731
CTGGCAGCCATCGTCCGGGCCATGGACACTTTGGGCATCGAATATGGTGATAAGGAGAGA c.300
L A A I V R A M D T L G I E Y G D K E R p.100
| 04 . . . . . . g.142349
AAG | GCTGACGCCAAGATGGTGTGTGATGTGGTGAGTCGGATGGAAGACACCGAGCCCTTC c.360
K | A D A K M V C D V V S R M E D T E P F p.120
. . . . . . g.142409
TCTGCAGAGCTGCTTTCTGCCATGATGCGGCTCTGGGGCGACTCAGGAATCCAAGAGTGC c.420
S A E L L S A M M R L W G D S G I Q E C p.140
. . . . | 05 . . g.148406
TTCAACCGGTCCCGGGAGTATCAGCTCAACGACTCTGCCAAATA | CTACCTGGACAGCCTG c.480
F N R S R E Y Q L N D S A K Y | Y L D S L p.160
. . . . . . g.148466
GATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTC c.540
D R I G A A D Y Q P T E Q D I L R T R V p.180
. . . . . | 06 . g.150399
AAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAG | GCTGTTT c.600
K T T G I V E T H F T F K N L H F R | L F p.200
. . . . . . g.150459
GACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACG c.660
D V G G Q R S E R K K W I H C F E D V T p.220
. . . . . . g.150519
GCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACC c.720
A I I F C V A L S G Y D Q V L H E D E T p.240
| 07 . . . . . . g.154552
ACG | AACCGCATGCACGAATCCCTGAAGCTTTTTGACAGCATCTGCAACAACAAATGGTTC c.780
T | N R M H E S L K L F D S I C N N K W F p.260
. . . . . . g.154612
ACAGACACGTCCATCATCCTGTTTCTTAACAAGAAGGACATATTTGAAGAGAAGATCAAG c.840
T D T S I I L F L N K K D I F E E K I K p.280
. . . | 08. . . g.157447
AAGTCCCCGCTCACCATCTGCTTTCCTGAATATACAG | GCCCCAGCGCCTTCACAGAAGCC c.900
K S P L T I C F P E Y T G | P S A F T E A p.300
. . . . . . g.157507
GTGGCTTACATCCAGGCCCAGTACGAGAGCAAGAACAAGTCAGCCCACAAAGAGATCTAC c.960
V A Y I Q A Q Y E S K N K S A H K E I Y p.320
. . . . . . g.157567
ACCCACGTCACCTGCGCCACGGACACCAACAACATCCAGTTTGTCTTTGATGCTGTGACG c.1020
T H V T C A T D T N N I Q F V F D A V T p.340
. . . . g.157612
GACGTCATCATCGCCAAAAACCTGCGGGGCTGTGGACTCTACTGA c.1065
D V I I A K N L R G C G L Y X p.354
. . . . . . g.157672
gcccagccgccctgcccggcacccttgccctgcctggcctgccgccccccctcccctgga c.*60
. . . . . . g.157732
accaggctccaccactctcagaccactctttgcacttgaggaagaagacctcagaggctg c.*120
. . . . . . g.157792
gcaccaagggagggaggagggagcatcctccacccgcaccccccaacagaacttgtggta c.*180
. . . . . . g.157852
acgcaggggcggggcggggctgctgagtgcatgctgcaaggccaggagactccacgctca c.*240
. . . . . . g.157912
cagcctctgtgtcatctctgagtgcttgatcgggaagctggggggacagggcagggccca c.*300
. . . . . . g.157972
gatgggcacaccctgcacctgatgactcactggaagcctcggagtgtcctcctgtcatct c.*360
. . . . . . g.158032
tgggtggtgcaggggcgcagatggccctgcagcagggtgctggcagggtggggtcatagg c.*420
. . . . . . g.158092
agccatccttcagctttgcctggggtctctggtggagggcagttccgtcaacaaaagcca c.*480
. . . . . . g.158152
gggtgggatcaggccaacttggtgtgggttggaggactcaggccttggcgatggcctccg c.*540
. . . . . . g.158212
tctccctgctccctcccctgggtctcagcccttccttctctgggtcatcctcccttgcct c.*600
. . . . . . g.158272
ttgctctcccagagaactcccatccctgactcctccgagttctggaaatgcttcttgaga c.*660
. . . . . . g.158332
ctgatttatggctcagatagatggtggcgtggagcggggggagggagagatgggaggtgc c.*720
. . . . . . g.158392
ggggaagggaggtggaagctcctgtgtcacctgggctggggcctcccgcccagtcctcgc c.*780
. . . . . . g.158452
aggccaaagggtgacccatttcttttttccagtcaccaggagctcggatggtcactctga c.*840
. . . . . . g.158512
ggtgtgaatagatatgtttttccttcagtccacactgaattcaactcaaaccagcaaagg c.*900
. . . . . . g.158572
cctttgggctggggattctgtggttgcagaggtctagagggggtggacttttgcagccag c.*960
. . . . . . g.158632
tgcctccgcctcaccgtcttggtgaagaaatcagcgagtttgttcacagccgttggtgtc c.*1020
. . . . . . g.158692
ttcccagcccctggggacagaggacagcagggggatggagctgacaccctggagtatttg c.*1080
. . . . . . g.158752
gacccaggccagcacaaacacacccccctgtccccaactctaaagggagagtcctaggac c.*1140
. . . . . . g.158812
tccttagaggaggcttcactgcggagatccctgagcagaagggggcggggtagcttctcc c.*1200
. . . . . . g.158872
cggtgacggtgacgcaggtctggctggccttgggcaaccaacacacctctcccactccaa c.*1260
. . . . . . g.158932
gatgcctccaggtggctgaggccaacgcccacacccaggccagtcgtgtgcttgtacagc c.*1320
. . . . . . g.158992
aggctgtgcctggggacctagatgtgccatgggagggaggagggtacccactgacaggcc c.*1380
. . . . . . g.159052
tctgcctccctcctcaagccctctgttctccctgcccccactctggacactgcttagtcc c.*1440
. . . . . . g.159112
ccagccaggcagggcccctgggtttccacttgcagcccccggactgccccagagccggga c.*1500
. . . . . . g.159172
agcaccagtgccaacagctctggacttgttggacccacaggcacagagctctgagtggtg c.*1560
. . . . . . g.159232
cccaggagacccaggaaccttccctagtgccaaatgcctgcagggaccggtgcctgggga c.*1620
. . . . . . g.159292
gcctctggcagccggactgcaggagccaccccatcagcccaagtccacctctgttttgtt c.*1680
. . . . . . g.159352
cacctcggtcatgttttggaccttgcaccaggtgctgggacgtggcagaggacaggccct c.*1740
. . . . . . g.159412
gggaaccaacagtgtcctaccatggacagccagggccagctaagctaagccatcccgccc c.*1800
. . . . . . g.159472
aacacagaagacatggcagttatttctcagcagcaccacgctgggtgaggccagttgttc c.*1860
. . . . . . g.159532
cgcttactctgctccgaactgtaaccccaggctcagaagcagccggcaaaagggggatgc c.*1920
. . . . . . g.159592
tggccacgccccacctctaaggccatcaccctggaggtggaagtcactgggctggagggc c.*1980
. . . . . . g.159652
tctccatgtcccccagcagccgccctcagaacacagtggccagagcaccaggctgggtcc c.*2040
. . . . . . g.159712
aggcctccaatccaggccttccctgtccctagaactggggctggaggagtgggtgctcag c.*2100
. . . . . . g.159772
cccttcctgccctccatccccagcctgcctttctcttcctttggatgctccatcctcctt c.*2160
. . . . . . g.159832
ggtttcttgcactgctctcaatcctcccaccctagcctgggggtggtccttggtcctcag c.*2220
. . . . . . g.159892
gggtatccggggagaaattctctccctgtgcatgacacctgtcatccatgtcgtaaccag c.*2280
. . . . . . g.159952
cggctccatcttgtggggtggtgactgagggtgacaaatgagatttggctccgtcgtgga c.*2340
. . . . . . g.160012
tgtggatgtgggaggaatgttgcgagtgacacgtgtgggtttctaatccacagtggtcct c.*2400
. . . . . . g.160072
gcgtgtgccctgaggggccatggtaacctctccgatggctcggatttagcaggccaagca c.*2460
. . . . . . g.160132
gaaactgatttctacgaagagcgtctttgccaaactcatgaaaattgtgcctgccacttt c.*2520
. . . . . . g.160192
catgcctatgggccagttttgtgacctgcgccgctgaccatcctaagaaccaggtcttgg c.*2580
. . . . . . g.160252
ccttccctctgagcactgatagaggtccccaaggctctctggcctgaggagggtgtgggg c.*2640
. . . . . . g.160312
tctgcccagccccaagcagagagcacagtctgggcccctgaccaacagctttggcattct c.*2700
. . . . . . g.160372
gggttccatggggaccctagagctcaggcacaagaacaacaccatacctgctgccaggac c.*2760
. . . . . . g.160432
gcagctgtctcccaggccctccccacagcccagctcccactggcaggaactggacacatc c.*2820
. . . . . . g.160492
cctgccctccatggtctgcactggtcttctctgagtattcttaggagcagaggcagcccc c.*2880
. . . . . . g.160552
aagttccaacttgcaagccctgtaactaagctgtctataaaccccagcagggaaggccaa c.*2940
. . . . . . g.160612
gggatggtctcacccatgcccttccctttggccaacatgagtcctgcagtggggagctta c.*3000
. . . . . . g.160672
gcccctgctcccacctaacactctacagttagcacccaggggttgattcaggaagttctt c.*3060
. . . . . . g.160732
cctttttctagcctgcatccttcctggccaccccctttatttctcagtctgacctggtgc c.*3120
. . . . . . g.160792
actcttggcaagtgagtccattgcagtcccaggtggatatttaatgagcactcggactgt c.*3180
. . . . . . g.160852
ttcctccaagtcagctagtggcctgccctcctccttttcaagaagtctggggcacagagc c.*3240
. . . . . . g.160912
ctcctctggctgcctcttctcttctctgagcctctgggagccttcaggcaaaacctggca c.*3300
. . . . . . g.160972
gttctcaggaacccagacctgaggctccagctccgcggccaccagagattcagtgtgcag c.*3360
. . . . . . g.161032
tgccgaaggcagtcacccccaggcagttcctgctgtcaggccgcaagcctagagcgcagg c.*3420
. . . . . . g.161092
atcccagcagcccagggaacagggccggcgtgtgagctgctgccgtggggtctgtggtag c.*3480
. . . . . . g.161152
ggctccccatctcccacccctcagcaagaagagtcctgacccctgaccccaccctgccca c.*3540
. . . . . . g.161212
gagaggagctggggcctccagacagaccccactgcagccagatgaaggcccctgtcaaag c.*3600
. . . . . . g.161272
aaggggcaggctgggggaaaagcagaaagaatggcccccagtccaaactcctggatcccc c.*3660
. . . . . . g.161332
tccatgagagaggggctccccctggaacagaagctctcatccccaggcccagtgcacaag c.*3720
. . . . . . g.161392
accaccagcagagacccaccgcccttcctggcagagcaccacttcctggcagtgcagctc c.*3780
. . . . . . g.161452
cgaggcaccactactgtcctccccttccctccccacccctcccctccctttccctcctct c.*3840
. . . . . . g.161512
cccctcccctccacacctgccctgttactcccacagctctgggcagccaggccctcccct c.*3900
. . . . . . g.161572
cctgcctcctggtcttctctactccgctggttctgacccatcccctggctctgcccgccg c.*3960
. . . . . . g.161632
tcccccaccctgcccctgctgagtatcttcttcctccccacgcacccccctcccccatct c.*4020
. . . . . . g.161692
aggcgaggtgggctcgggcgtcccaggccctccttagaaaagccgtctctctcgagtgca c.*4080
. . . . . . g.161752
gtggtcccacctcccaaccccatcactgctgcccaccccatattaactgtaattttgtaa c.*4140
. . . . . . g.161812
gaagagtgacttgttggtttaataaatctctagttattgtaataatttattggctgccat c.*4200
. . . . g.161861
aatgtatttattagtcgcctaccgttaataaaaagtgcccgctttccta c.*4249
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center