(used for variant description)
(last modified June 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000806.5 in the GABRA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011548.1, covering GABRA1 transcript NM_000806.5.
(upstream sequence)
. . . . g.5048
aacagaagatgccggagaaggggggggaaaagtagatgcggatttcgt c.-421
. . . . . . g.5108
cctgacttctaaaaattcctcctctccctctcccattttcctaatccgagaatgatggag c.-361
. . . . . . g.5168
ctcgaggcaaaggaatgattccggaaatggagatatgattctcaaacctagaaatgatcg c.-301
. . . . . . | 02 g.6007
gagtgatttattagttaaatattcttcgtccaggaacccagcacaattcagag | ctgcaga c.-241
. . . . . . g.6067
ttggatattgggaagcaaatttgggtgtgaaatcttcagcaaaggagcacgcagagtcca c.-181
. . . . . . g.6127
tgatggctcagaccaagtgagtgagaggcagagcgaggacgcccctctgctctggcgcgc c.-121
. . . . . . g.6187
ccggactcggactcgcagactcgcgctggctccagtctctccacgattctctctcccaga c.-61
. . . . . | 03 . g.8620
cttttccccggtcttaagagatcctgtgtccagagggggccttag | ctgctccagcccgcg c.-1
. . . . . . g.8680
ATGAGGAAAAGTCCAGGTCTGTCTGACTGTCTTTGGGCCTGGATCCTCCTTCTGAGCACA c.60
M R K S P G L S D C L W A W I L L L S T p.20
. | 04 . . . . . g.12013
CTGACTGGAAGAAG | CTATGGACAGCCGTCATTACAAGATGAACTTAAAGACAATACCACT c.120
L T G R S | Y G Q P S L Q D E L K D N T T p.40
. . . . . . g.12073
GTCTTCACCAGGATTTTGGACAGACTCCTAGATGGTTATGACAATCGCCTGAGACCAGGA c.180
V F T R I L D R L L D G Y D N R L R P G p.60
| 05. . . . . . g.23583
TTGGGAG | AGCGTGTAACCGAAGTGAAGACTGATATCTTCGTCACCAGTTTCGGACCCGTT c.240
L G E | R V T E V K T D I F V T S F G P V p.80
. | 06 . . . . . g.30971
TCAGACCATGATATG | GAATATACAATAGATGTATTTTTCCGTCAAAGCTGGAAGGATGAA c.300
S D H D M | E Y T I D V F F R Q S W K D E p.100
. . . . . . g.31031
AGGTTAAAATTTAAAGGACCTATGACAGTCCTCCGGTTAAATAACCTAATGGCAAGTAAA c.360
R L K F K G P M T V L R L N N L M A S K p.120
. . . . . . g.31091
ATCTGGACTCCGGACACATTTTTCCACAATGGAAAGAAGTCAGTGGCCCACAACATGACC c.420
I W T P D T F F H N G K K S V A H N M T p.140
. . . . . | 07 . g.33373
ATGCCCAACAAACTCCTGCGGATCACAGAGGATGGCACCTTGCTGTACACCATGAG | GCTG c.480
M P N K L L R I T E D G T L L Y T M R | L p.160
. . . . . . g.33433
ACAGTGAGAGCTGAATGTCCGATGCATTTGGAGGACTTCCCTATGGATGCCCATGCTTGC c.540
T V R A E C P M H L E D F P M D A H A C p.180
. | 08 . . . . g.40408
CCACTAAAATTTGGAAGTT | ATGCTTATACAAGAGCAGAAGTTGTTTATGAATGGACCAGA c.600
P L K F G S Y | A Y T R A E V V Y E W T R p.200
. . . . . . g.40468
GAGCCAGCACGCTCAGTGGTTGTAGCAGAAGATGGATCACGTCTAAACCAGTATGACCTT c.660
E P A R S V V V A E D G S R L N Q Y D L p.220
. . . . | 09 . . g.48724
CTTGGACAAACAGTAGACTCTGGAATTGTCCAGTCAAGTACAG | GAGAATATGTTGTTATG c.720
L G Q T V D S G I V Q S S T G | E Y V V M p.240
. . . . . . g.48784
ACCACTCATTTCCACTTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCTGCCA c.780
T T H F H L K R K I G Y F V I Q T Y L P p.260
. . . . . . g.48844
TGCATAATGACAGTGATTCTCTCACAAGTCTCCTTCTGGCTCAACAGAGAGTCTGTACCA c.840
C I M T V I L S Q V S F W L N R E S V P p.280
. | 10 . . . . . g.53519
GCAAGAACTGTCTTTG | GAGTAACAACTGTGCTCACCATGACAACATTGAGCATCAGTGCC c.900
A R T V F G | V T T V L T M T T L S I S A p.300
. . . . . . g.53579
AGAAACTCCCTCCCTAAGGTGGCTTATGCAACAGCTATGGATTGGTTTATTGCCGTGTGC c.960
R N S L P K V A Y A T A M D W F I A V C p.320
. . . . . . g.53639
TATGCCTTTGTGTTCTCAGCTCTGATTGAGTTTGCCACAGTAAACTATTTCACTAAGAGA c.1020
Y A F V F S A L I E F A T V N Y F T K R p.340
. . . | 11 . . g.54941
GGTTATGCATGGGATGGCAAAAGTGTGGTTCCAGAAAAG | CCAAAGAAAGTAAAGGATCCT c.1080
G Y A W D G K S V V P E K | P K K V K D P p.360
. . . . . . g.55001
CTTATTAAGAAAAACAACACTTACGCTCCAACAGCAACCAGCTACACCCCTAATTTGGCC c.1140
L I K K N N T Y A P T A T S Y T P N L A p.380
. . . . . . g.55061
AGGGGCGACCCGGGCTTAGCCACCATTGCTAAAAGTGCAACCATAGAACCTAAAGAGGTC c.1200
R G D P G L A T I A K S A T I E P K E V p.400
. . . . . . g.55121
AAGCCCGAAACAAAACCACCAGAACCCAAGAAAACCTTTAACAGTGTCAGCAAAATTGAC c.1260
K P E T K P P E P K K T F N S V S K I D p.420
. . . . . . g.55181
CGACTGTCAAGAATAGCCTTCCCGCTGCTATTTGGAATCTTTAACTTAGTCTACTGGGCT c.1320
R L S R I A F P L L F G I F N L V Y W A p.440
. . . . . g.55232
ACGTATTTAAACAGAGAGCCTCAGCTAAAAGCCCCCACACCACATCAATAG c.1371
T Y L N R E P Q L K A P T P H Q X p.456
. . . . . . g.55292
atcttttactcacattctgttgttcagtcctctgcactgggaatttatttatgttctcaa c.*60
. . . . . . g.55352
cgcagtaattcccatctgctttattgcctctgtcttaaagaatttgaaagtttccttatt c.*120
. . . . . . g.55412
ttcataattcatttaagaacaagagacccctgtctggcagtctggagcaaagcagactat c.*180
. . . . . . g.55472
gcagcttggagacaggattctgacagagcaagcgaaagagcaaagtcatgtcagaaggag c.*240
. . . . . . g.55532
acagaatgagagagaaaagagggggaagatggttcaaagatacaagaaaaagtagaaaaa c.*300
. . . . . . g.55592
aaaataacacttaactaaaacccctaggtcatttgtagatatatatttccaaatattcta c.*360
. . . . . . g.55652
aaaaagatactgtatatgtcaaaaatatttttatgtgaaggtgtttcaaagggtaaatta c.*420
. . . . . . g.55712
taaatgtttcatgaagaaaaaattttaaaaatctacgtctttattacacaaactatggtg c.*480
. . . . . . g.55772
tgcttatgtttttgttttgctttttaaactgatgtatagctttaacattttgtttccaaa c.*540
. . . . . . g.55832
gctgaagatccccattctttctctttgaaaaaaaaaaaggcctaatgcattattttgtca c.*600
. . . . . . g.55892
taaaatgctattttaaaattcatggaactttcatacgtaaaggtgcagttgctcattgta c.*660
. . . . . . g.55952
gagcacatttagtccaatgaagataaatgctttaaatagtttacttcactttcatctgag c.*720
. . . . . . g.56012
cttttaccactagactcaaggaagaataattttaacagacatgtatactccatagaaact c.*780
. . . . . . g.56072
aaactaaaatagtttaaaaatattccctttttcaccctattttcagatagcacatgagcc c.*840
. . . . . . g.56132
caacactcacttaattctcattatgaagatgtttttagaggggcaaaaatattttgcaag c.*900
. . . . . . g.56192
ctctggaattgttgaatgtattcttttatataactacattaaaagctttagattgaaatt c.*960
. . . . . . g.56252
tatgactagcaaacaaaaatagaatatataaacgatatatgtaaatatacagcatgagat c.*1020
. . . . . . g.56312
tgtacattttttacttttttaaaattgtgttcttaaaatattgtgtaagaatcactgcac c.*1080
. . . . . . g.56372
ttagctgttggaatgttgttaaatgctatggaaatacatttagaacctgcatttaagaac c.*1140
. . . . . . g.56432
agaacagcaagtatgaaccacatggaacttaaaacatatgggtgtgaagtccacttatgt c.*1200
. . . . . . g.56492
agacaaaacttataatttccaaactgttgtctagtatacagtgatcagttgctctctgtt c.*1260
. . . . . . g.56552
caagtcattccacacatttccctattttaggctattataatatagaaagaaaatgggaag c.*1320
. . . . . . g.56612
cattagttggagctagaaaatgaactgtatattattgctatatttgctaataccaactat c.*1380
. . . . . . g.56672
ttcaataagtgttgtaccatatgtagcattaaatataaaatacataaaagaatgtacaga c.*1440
. . . . . . g.56732
aaatagcttttattgagtaatattacatttcatttatactgtagcaatatatttgtaggt c.*1500
. . . . . . g.56792
atactatgtaagggctttaaataaaagaggtccattaatacttccttataaaaattctag c.*1560
. . . . . . g.56852
tctgtttcattactgcccagatgttttagagataaatatttatgcagaaggtatttttga c.*1620
. . . . . . g.56912
agtctccttttgtctgatagagtttaacagatatttaaatttagtgctcagaatccacaa c.*1680
. . . . . . g.56972
gtcacggtctaaacacacttagaatactacagcataaatctgttagcattattgccaaat c.*1740
. . . . . . g.57032
aagacagttgggatccaaacccaagtcttgagcaatgtttttctcaaaaagctgctatcc c.*1800
. . . . . . g.57092
aatgatataggaaaatacattgtgttttcctaaacacacttttctttttaaatgtgcttc c.*1860
. . . . . . g.57152
attgtttgatttggtcctgcctaaatttcacaagctaggccaatgaaggctgaatcaaag c.*1920
. . . . . . g.57212
acatttcatccaccaatatcatgtgtagatattatgtatagaaaataaaataaattatgg c.*1980
. . . . . . g.57272
ctctaacttctgtgttgctgtttatcttgttatttttcggcgttatactaatgtgtttat c.*2040
. . . . . . g.57332
tgagagcattttaccttccagacttctcatggctaacttttggtctgtattttgctcctt c.*2100
. . . . . . g.57392
agatgtgaatatttcttattagtctgcttcctgctacgcaatgactgcatttctatcatt c.*2160
. . . . . . g.57452
tctcagtttgttagtatatgtggatagtattctactgtataaatgattgcaaagtttatc c.*2220
. . . . . . g.57512
aaaaacaaattattatatgtagcttttctacagtgctttgctaaaccatgtagtactagt c.*2280
. . . . . . g.57572
taagtcttccttgaaaataaagatacactcttataggggacagttcctgttcactcccag c.*2340
. . . . . . g.57632
gaaacttttttaaaagatgacactgaatgtttattgcactttagtgcagtgaagtggcaa c.*2400
. . . . . . g.57692
taaaacctaacatgaatcaaggttgtttatggcagatgcatgtgttgctttacagagttt c.*2460
. . . . . . g.57752
agcaaaagctcttaattttatgtcatactgtattctactgaataataaagctaacattat c.*2520
. g.57769
tcaataataaaatggaa c.*2537
(downstream sequence)
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