(used for variant description)
(last modified May 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002074.3 in the GNB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering GNB1 transcript NM_002074.3.
(upstream sequence)
g.5003
agg c.-361
. . . . . . g.5063
ggcccgccgcgcccatcccgatggctggaggcgtctgaggggcggacggaggcggcggcg c.-301
. . . . . . g.5123
gcggcggcgggagcgggagcgggcggcgagtggggagcggggccgggagtggagcagccg c.-241
. . . . . . g.5183
ccgcggcgggactggaccgagcctcgccggcgcgcacctgcccgcagcgcccgcggagcg c.-181
. . . . . . g.5243
cgcagcgcggcccgagcgcgacgacctgccgagcggcggccgaggcggcggtgtgggcgc c.-121
. . . | 02 . . . g.56884
gtcaggccgcgacgagggcgctgag | acaaatttacatgtattggagaccagaccagaagc c.-61
. . | 03 . . . . g.70634
ccttctgaattaag | atctcacattcttgaaggtggcattgaagagcactaagatcggaag c.-1
. . . . . | 04. g.78215
ATGAGTGAGCTTGACCAGTTACGGCAGGAGGCCGAGCAACTTAAGAACCAGATTCGA | GAC c.60
M S E L D Q L R Q E A E Q L K N Q I R | D p.20
. . . | 05 . . . g.80249
GCCAGGAAAGCATGTGCAGATGCAACTCTCTCTCAG | ATCACAAACAACATCGACCCAGTG c.120
A R K A C A D A T L S Q | I T N N I D P V p.40
. . . . . . g.80309
GGAAGAATCCAAATGCGCACGAGGAGGACACTGCGGGGGCACCTGGCCAAGATCTACGCC c.180
G R I Q M R T R R T L R G H L A K I Y A p.60
. . | 06 . . . . g.89586
ATGCACTGGGGCACAGACTCCAG | GCTTCTCGTCAGTGCCTCGCAGGATGGTAAACTTATC c.240
M H W G T D S R | L L V S A S Q D G K L I p.80
. . | 07. . . . g.91539
ATCTGGGACAGCTACACCACCAACAAG | GTCCACGCCATCCCTCTGCGCTCCTCCTGGGTC c.300
I W D S Y T T N K | V H A I P L R S S W V p.100
. . . . . . g.91599
ATGACCTGTGCATATGCCCCTTCTGGGAACTATGTGGCCTGCGGTGGCCTGGATAACATT c.360
M T C A Y A P S G N Y V A C G G L D N I p.120
. . . . . . g.91659
TGCTCCATTTACAATCTGAAAACTCGTGAGGGGAACGTGCGCGTGAGTCGTGAGCTGGCA c.420
C S I Y N L K T R E G N V R V S R E L A p.140
. | 08 . . . . . g.102826
GGACACACAG | GTTACCTGTCCTGCTGCCGATTCCTGGATGACAATCAGATCGTCACCAGC c.480
G H T G | Y L S C C R F L D D N Q I V T S p.160
. | 09. . . . . g.105534
TCTGGAGACACCACGTG | TGCCCTGTGGGACATCGAGACCGGCCAGCAGACGACCACGTTT c.540
S G D T T C | A L W D I E T G Q Q T T T F p.180
. . . . . . g.105594
ACCGGACACACTGGAGATGTCATGAGCCTTTCTCTTGCTCCTGACACCAGACTGTTCGTC c.600
T G H T G D V M S L S L A P D T R L F V p.200
. . . . . . g.105654
TCTGGTGCTTGTGATGCTTCAGCCAAACTCTGGGATGTGCGAGAAGGCATGTGCCGGCAG c.660
S G A C D A S A K L W D V R E G M C R Q p.220
. . . | 10 . . g.106839
ACCTTCACTGGCCACGAGTCTGACATCAATGCCATTTGC | TTCTTTCCAAATGGCAATGCA c.720
T F T G H E S D I N A I C | F F P N G N A p.240
. . . . . . g.106899
TTTGCCACTGGCTCAGACGACGCCACCTGCAGGCTGTTTGACCTTCGTGCTGACCAGGAG c.780
F A T G S D D A T C R L F D L R A D Q E p.260
. . . . . . g.106959
CTCATGACTTACTCCCATGACAACATCATCTGCGGGATCACCTCTGTCTCCTTCTCCAAG c.840
L M T Y S H D N I I C G I T S V S F S K p.280
. . . . . . g.107019
AGCGGGCGCCTCCTCCTTGCTGGGTACGACGACTTCAACTGCAACGTCTGGGATGCACTC c.900
S G R L L L A G Y D D F N C N V W D A L p.300
. | 11 . . . . . g.108694
AAAGCCGACCGGGCAG | GTGTCTTGGCTGGGCATGACAACCGCGTCAGCTGCCTGGGCGTG c.960
K A D R A G | V L A G H D N R V S C L G V p.320
. . . . . . g.108754
ACTGACGATGGCATGGCTGTGGCGACAGGGTCCTGGGATAGCTTCCTCAAGATCTGGAAC c.1020
T D D G M A V A T G S W D S F L K I W N p.340
g.108757
TAA | c.1024
X p.340
| 12 . . . . . g.109085
cgccagtag | catgtggatgccatggagactggaagaccattccaacttggacgcgttacc c.*60
. . . . . . g.109145
atgagagcatatcctatccaaccgtactaacgtggacaccctacacctcccctcagaact c.*120
. . . . . . g.109205
tcaaaagggcaagatcttttttccttcacttattgctgaaaccaagagcacaattcccat c.*180
. . . . . . g.109265
tgagagaaagatctctgtgctgtaaactaaaacaaattgtgcattccttccggggccatc c.*240
. . . . . . g.109325
gtctttgttttcttttttgtcttgaatgaattttaaaaggaaatatataataaaaatgtt c.*300
. . . . . . g.109385
aaccagaaggtaaacttgagtgtaattgtcagacagacacacttttccaccagtgtattt c.*360
. . . . . . g.109445
gaattttagaccagtgaccctgttttgtggcattcatgcaaaacatgctgagggctttgt c.*420
. . . . . . g.109505
tcatctggtcatcgtgtccaaatttcagtcatgtttgtagcaagattttggaagcattca c.*480
. . . . . . g.109565
tatttcctttttaaaatgtattcctttgtgttcaacagttaatcaaaaccagagagtcta c.*540
. . . . . . g.109625
gggcagcctctctgatgttgtcaatgatgtaaattcagtccctggtttttaattttctgt c.*600
. . . . . . g.109685
ctgatgtcacagatcattgttgcacacaaacgtggcatagaaaagaacatgttcagaagc c.*660
. . . . . . g.109745
catggggccaagcacatgcggggacggtctcaaatgcgtgatcagagaatccttcacctt c.*720
. . . . . . g.109805
tgctgaaaagtgagctcagatccagcaccatgttcctcctgacccatcctgtctatcttc c.*780
. . . . . . g.109865
tcagttgagtttttaatctcactttgggtttccttgtgaagttggagggaagtttataat c.*840
. . . . . . g.109925
agcctaacactaccccacccccaactaggaggaacctctgttttcaagagagatgcctgt c.*900
. . . . . . g.109985
cctgtgcttggatagtcagtcaattatttgtgtatgaaacaatgtacaaatcaatgtttt c.*960
. . . . . . g.110045
gaaaataatgatctcagactttctaagttaaattttaaaaattttgattgtttgccatat c.*1020
. . . . . . g.110105
tgggtgggtttactcttagaatcgcatgctgtagaaatgctcaaaagtgcatatgggact c.*1080
. . . . . . g.110165
cagtccttaggtgttctttttcttttaagaaataacctcttacagttgtaaccattgcgg c.*1140
. . . . . . g.110225
ctctgtccacttctcgttgctgctctgtggcacatatcggaagcagtacagcgcgcggct c.*1200
. . . . . . g.110285
ctacacgcttgggtagcgggataagtcactgttttctttatttctttaaaaaaaaaaaag c.*1260
. . . . . . g.110345
ttctgttgcaaacgactgctgttggattctgagggtggggagggagagagagggagggag c.*1320
. . . . . . g.110405
agggagtgaagagcctgccctcctatatggattcttcagggccctccacatctgaggtgg c.*1380
. . . . . . g.110465
ctcattcccatcacacacagattgtcctggtgttcatttcaaggccagtgttcagcagca c.*1440
. . . . . . g.110525
gcgtttggaaagcaggttctgtgggaccccccgccccgccccccgcactccttcatagca c.*1500
. . . . . . g.110585
gcagtagtggcttctccatcctgttttctgcaacattctatacaaaactgtgctgtgacc c.*1560
. . . . . . g.110645
ttgcggtaggcctggatctggcaaagagaatacaaatgaaaccccttctttctctttccg c.*1620
. . . . . . g.110705
tccaacaactctgtagagctctctgcacccttacccctttccaccttttgtatttaattt c.*1680
. . . . . . g.110765
taaagtcagtgtactgcaaggaagctggatgcaagatagatactatattaaactgtactg c.*1740
. . . g.110802
ttatttaagatgtaataaagcagtttgacatgaggga c.*1777
(downstream sequence)
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