(used for variant description)
(last modified October 16, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000827.3 in the GRIA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047078.1, covering GRIA1 transcript NM_000827.3.
(upstream sequence)
g.5005
ataga c.-361
. . . . . . g.5065
gcttgctgcctgtgtgagtgtgagggggagagcgagagagagcaagggagggagagagag c.-301
. . . . . . g.5125
gcaggctgcgaggggagaggagagggagtgggggagccagcgctccagctagcatgagga c.-241
. . . . . . g.5185
cgggcttcttttcccgtgctcagttaatctggctgtcagttggtgttaacgctgcagttt c.-181
. . . . . . g.5245
aagtgttcggattccaagggaaacagacaaacctcacgaaaggaaggaagcaagcaagca c.-121
. . . . . . g.5305
aggaaggaactgcaggaggaaaagaacaggcagaacagcgagaagaataaagggaaaggg c.-61
. . . . . . g.5365
ggggaaacaccaaatctatgattggacctgggcttctttttcgccaatgcaaaaaggaat c.-1
. . . . . . g.5425
ATGCAGCACATTTTTGCCTTCTTCTGCACCGGTTTCCTAGGCGCGGTAGTAGGTGCCAAT c.60
M Q H I F A F F C T G F L G A V V G A N p.20
. . | 02 . . . . g.8442
TTCCCCAACAATATCCAGATCG | GGGGATTATTTCCAAACCAGCAGTCACAGGAACATGCT c.120
F P N N I Q I G | G L F P N Q Q S Q E H A p.40
. . . . . . g.8502
GCTTTTAGATTTGCTTTGTCGCAACTCACAGAGCCCCCGAAGCTGCTCCCCCAGATTGAT c.180
A F R F A L S Q L T E P P K L L P Q I D p.60
. . . . | 03 . . g.161424
ATTGTGAACATCAGCGACAGCTTTGAGATGACCTATAGAT | TCTGTTCCCAGTTCTCCAAA c.240
I V N I S D S F E M T Y R F | C S Q F S K p.80
. . . . . . g.161484
GGAGTCTATGCCATCTTTGGGTTTTATGAACGTAGGACTGTCAACATGCTGACCTCCTTT c.300
G V Y A I F G F Y E R R T V N M L T S F p.100
. . . . . . g.161544
TGTGGGGCCCTCCACGTCTGCTTCATTACGCCGAGCTTTCCCGTTGATACATCCAATCAG c.360
C G A L H V C F I T P S F P V D T S N Q p.120
. . . . . . g.161604
TTTGTCCTTCAGCTGCGCCCTGAACTGCAGGATGCCCTCATCAGCATCATTGACCATTAC c.420
F V L Q L R P E L Q D A L I S I I D H Y p.140
. . . . | 04 . . g.164826
AAGTGGCAGAAATTTGTCTACATTTATGATGCCGACCGGG | GCTTATCCGTCCTGCAGAAA c.480
K W Q K F V Y I Y D A D R G | L S V L Q K p.160
. . . . . . g.164886
GTCCTGGATACAGCTGCTGAGAAGAACTGGCAGGTGACAGCAGTCAACATTTTGACAACC c.540
V L D T A A E K N W Q V T A V N I L T T p.180
. . . . . . g.164946
ACAGAGGAGGGATACCGGATGCTCTTTCAGGACCTGGAGAAGAAAAAGGAGCGGCTGGTG c.600
T E E G Y R M L F Q D L E K K K E R L V p.200
. . . . | 05 . . g.170310
GTGGTGGACTGTGAATCAGAACGCCTCAATGCTATCTTGGGCCAG | ATTATAAAGCTAGAG c.660
V V D C E S E R L N A I L G Q | I I K L E p.220
. . . | 06 . . g.188997
AAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTG | GGCTTCATGGACATTGACTTA c.720
K N G I G Y H Y I L A N L | G F M D I D L p.240
. . . . . . g.189057
AACAAATTCAAGGAGAGTGGCGCCAATGTGACAGGTTTCCAGCTGGTGAACTACACAGAC c.780
N K F K E S G A N V T G F Q L V N Y T D p.260
. . . . . . g.189117
ACTATTCCGGCCAAGATCATGCAGCAGTGGAAGAATAGTGATGCTCGAGACCACACACGG c.840
T I P A K I M Q Q W K N S D A R D H T R p.280
. . | 07 . . . . g.191509
GTGGACTGGAAGAGACCCAAG | TACACCTCTGCGCTCACCTACGATGGGGTGAAGGTGATG c.900
V D W K R P K | Y T S A L T Y D G V K V M p.300
. . . . . . g.191569
GCTGAGGCTTTCCAGAGCCTGCGGAGGCAGAGAATTGATATATCTCGCCGGGGGAATGCT c.960
A E A F Q S L R R Q R I D I S R R G N A p.320
. . . . . . g.191629
GGGGATTGTCTGGCTAACCCAGCTGTTCCCTGGGGCCAAGGGATCGACATCCAGAGAGCT c.1020
G D C L A N P A V P W G Q G I D I Q R A p.340
| 08 . . . . . g.200752
CTGCAGCAG | GTGCGATTTGAAGGTTTAACAGGAAACGTGCAGTTTAATGAGAAAGGACGC c.1080
L Q Q | V R F E G L T G N V Q F N E K G R p.360
. . . . . | 09 . g.212526
CGGACCAACTACACGCTCCACGTGATTGAAATGAAACATGACGGCATCCGAAAG | ATTGGT c.1140
R T N Y T L H V I E M K H D G I R K | I G p.380
. . . . . . g.212586
TACTGGAATGAAGATGATAAGTTTGTCCCTGCAGCCACCGATGCCCAAGCTGGGGGCGAT c.1200
Y W N E D D K F V P A A T D A Q A G G D p.400
. . . . | 10 . . g.213358
AATTCAAGTGTTCAGAACAGAACATACATCGTCACAACAATCCTA | GAAGATCCTTATGTG c.1260
N S S V Q N R T Y I V T T I L | E D P Y V p.420
. . . . . . g.213418
ATGCTCAAGAAGAACGCCAATCAGTTTGAGGGCAATGACCGTTACGAGGGCTACTGTGTA c.1320
M L K K N A N Q F E G N D R Y E G Y C V p.440
. . . . . . g.213478
GAGCTGGCGGCAGAGATTGCCAAGCACGTGGGCTACTCCTACCGTCTGGAGATTGTCAGT c.1380
E L A A E I A K H V G Y S Y R L E I V S p.460
. . . . . . g.213538
GATGGAAAATACGGAGCCCGAGACCCTGACACGAAGGCCTGGAATGGCATGGTGGGAGAG c.1440
D G K Y G A R D P D T K A W N G M V G E p.480
. | 11 . . . . . g.220221
CTGGTCTATGGA | AGAGCAGATGTGGCTGTGGCTCCCTTAACTATCACTTTGGTCCGGGAA c.1500
L V Y G | R A D V A V A P L T I T L V R E p.500
. . . . . . g.220281
GAAGTTATAGATTTCTCCAAACCATTTATGAGTTTGGGGATCTCCATCATGATTAAAAAA c.1560
E V I D F S K P F M S L G I S I M I K K p.520
. . . . . . g.220341
CCACAGAAATCCAAGCCGGGTGTCTTCTCCTTCCTTGATCCTTTGGCTTATGAGATTTGG c.1620
P Q K S K P G V F S F L D P L A Y E I W p.540
. . . . . . g.220401
ATGTGCATTGTTTTTGCCTACATTGGAGTGAGTGTTGTCCTCTTCCTGGTCAGCCGCTTC c.1680
M C I V F A Y I G V S V V L F L V S R F p.560
. . . . . . g.220461
AGTCCCTATGAATGGCACAGTGAAGAGTTTGAGGAAGGACGGGACCAGACAACCAGTGAC c.1740
S P Y E W H S E E F E E G R D Q T T S D p.580
. . . . . . g.220521
CAGTCCAATGAGTTTGGGATATTCAACAGTTTGTGGTTCTCCCTGGGAGCCTTCATGCAG c.1800
Q S N E F G I F N S L W F S L G A F M Q p.600
. . | 12 . . . . g.278947
CAAGGATGTGACATTTCTCCCAG | GTCCCTGTCTGGTCGCATCGTTGGTGGCGTCTGGTGG c.1860
Q G C D I S P R | S L S G R I V G G V W W p.620
. . . . . . g.279007
TTCTTCACCTTAATCATCATCTCCTCATATACAGCCAATCTGGCCGCCTTCCTGACCGTG c.1920
F F T L I I I S S Y T A N L A A F L T V p.640
. . . . . . g.279067
GAGAGGATGGTGTCTCCCATTGAGAGTGCAGAGGACCTAGCGAAGCAGACAGAAATTGCC c.1980
E R M V S P I E S A E D L A K Q T E I A p.660
. . . . | 13 . . g.284662
TACGGGACGCTGGAAGCAGGATCTACTAAGGAGTTCTTCAGG | AGGTCTAAAATTGCTGTG c.2040
Y G T L E A G S T K E F F R | R S K I A V p.680
. . . . . . g.284722
TTTGAGAAGATGTGGACATACATGAAGTCAGCAGAGCCATCAGTTTTTGTGCGGACCACA c.2100
F E K M W T Y M K S A E P S V F V R T T p.700
. . . . . . g.284782
GAGGAGGGGATGATTCGAGTGAGGAAATCCAAAGGCAAATATGCCTACCTCCTGGAGTCC c.2160
E E G M I R V R K S K G K Y A Y L L E S p.720
. . . . . . g.284842
ACCATGAATGAGTACATTGAGCAGCGGAAACCCTGTGACACCATGAAGGTGGGAGGTAAC c.2220
T M N E Y I E Q R K P C D T M K V G G N p.740
. . . . . | 14 . g.309107
TTGGATTCCAAAGGCTATGGCATTGCAACACCCAAGGGGTCTGCCCTGAG | AAATCCAGTA c.2280
L D S K G Y G I A T P K G S A L R | N P V p.760
. . . . . . g.309167
AACCTGGCAGTGTTAAAACTGAACGAGCAGGGGCTTTTGGACAAATTGAAAAACAAATGG c.2340
N L A V L K L N E Q G L L D K L K N K W p.780
. . . . | 15 . . g.316847
TGGTACGACAAGGGCGAGTGCGGCAGCGGGGGAGGTGATTCCAAG | GACAAGACAAGCGCT c.2400
W Y D K G E C G S G G G D S K | D K T S A p.800
. . . . . . g.316907
CTGAGCCTCAGCAATGTGGCAGGCGTGTTCTACATCCTGATCGGAGGACTTGGACTAGCC c.2460
L S L S N V A G V F Y I L I G G L G L A p.820
. . . . . . g.316967
ATGCTGGTTGCCTTAATCGAGTTCTGCTACAAATCCCGTAGTGAATCCAAGCGGATGAAG c.2520
M L V A L I E F C Y K S R S E S K R M K p.840
| 16 . . . . . . g.325561
| GGTTTTTGTTTGATCCCACAGCAATCCATCAACGAAGCCATACGGACATCGACCCTCCCC c.2580
| G F C L I P Q Q S I N E A I R T S T L P p.860
. . . . . . g.325621
CGCAACAGCGGGGCAGGAGCCAGCAGCGGCGGCAGTGGAGAGAATGGTCGGGTGGTCAGC c.2640
R N S G A G A S S G G S G E N G R V V S p.880
. . . . . . g.325681
CATGACTTCCCCAAGTCCATGCAATCGATTCCTTGCATGAGCCACAGTTCAGGGATGCCC c.2700
H D F P K S M Q S I P C M S H S S G M P p.900
. . g.325702
TTGGGAGCCACGGGATTGTAA c.2721
L G A T G L X p.906
. . . . . . g.325762
ctggagcagatggagaccccttggggagcaggctcgggctccccagccccatcccaaacc c.*60
. . . . . . g.325822
cttcagtgccaaaaacaacaacaaaatgaaacgcaaccaccaccaaccactgcgaccaca c.*120
. . . . . . g.325882
agaaggatgattcaacaggttttcctgaagaattgaaaaaccattttgctgtcccttttc c.*180
. . . . . . g.325942
cttttttgatgttctttcacccttttctgtttgctaagtgaggatgaaaaaataacactg c.*240
. . . . . . g.326002
tactgcaataaggggagagtaaccctgtctaatgaaacctgtgtctctgagagtagagtc c.*300
. . . . . . g.326062
actggaacactaatgaggaaactgcactgttttattttaattcagttgttagtgtgtctt c.*360
. . . . . . g.326122
agtgtgtgcaattttttttcttactaatatccatggtttgcaggttctgttaggcccttt c.*420
. . . . . . g.326182
ccttctccttacttcttatccccaactccctacccacccctcttcagttttcagattgga c.*480
. . . . . . g.326242
gattcaagatttgttccactttacaagcaagaggaaaaaaaagcaaccttcaaactaatt c.*540
. . . . . . g.326302
ctccatgggggctctccatgttaccctccactccttggcccaaacctctgatggagatag c.*600
. . . . . . g.326362
acattgttggagaagtgggctgccttccccaagtggggcactgcttaagcacttattcag c.*660
. . . . . . g.326422
tggagaacacaggtgaaaagcaactcaggatgagggtggtggagagggcaggggcagatg c.*720
. . . . . . g.326482
tgcagtcagagaaggactcctgaagttactgctgctcagaaaaacagttcctttaatgtg c.*780
. . . . . . g.326542
gaagagccatttcataggtcataggtggtatggtatatttcttcagagtcaaccttggcc c.*840
. . . . . . g.326602
ctgagaagtatgtcctcctggtgtgctcaggctcaacggcagtctggtggctgaaggcac c.*900
. . . . . . g.326662
ttggcctcctaaaccaagcagaattttgggaagagataacagccagggagatattgccca c.*960
. . . . . . g.326722
tgattctcactttttctttgcctggcatctaagcaggaacccattgtggagtagactctc c.*1020
. . . . . . g.326782
ttcttctatggagcctctgacatggggagcaatgctaagcaagctaagtgtaaaagaaaa c.*1080
. . . . . . g.326842
gtgacagaataattttggaagaggaagcctcatcaaaagctcacacaaaatagagcttcc c.*1140
. . . . . . g.326902
catggtgtgccctatcctaggtttaagaaaacacgtatgaagtttatgctgatgcaaaga c.*1200
. . . . . . g.326962
acttgggtttttatgttaatataaagtgttgttttagcatgtggccagatgatgctctgt c.*1260
. . . . . . g.327022
catctttagaaagtgagataaccaaggaaataattgaaggagtatagggagatggattaa c.*1320
. . . . . . g.327082
gttgataatgacatttagggcaacttaagacctttgatcccaggttctaactcaaagagg c.*1380
. . . . . . g.327142
ctgaccttcccccagctaagatagcatgaggacgttgtattccaatatacgtatgattgg c.*1440
. . . . . . g.327202
ggctacaaagctgaactaaagcaagattggtgaagtggcagggtttatagagagaagccc c.*1500
. . . . . . g.327262
aggctgagttcagcttttgttggaagtgagaatccctgacatatagctttcttggagatc c.*1560
. . . . . . g.327322
ccaactctcattcttggtgcaactggcttccagctctccagcagtcactctcctaggtgc c.*1620
. . . . . . g.327382
atgattcagtgcgtgccatgtgtcattagcttttactgataaccatattctggcttgttc c.*1680
. . . . . . g.327442
ccttaccccctacttctatccaattttctctgctaggggttatcattagcaattgacatg c.*1740
. . . . . . g.327502
ctaaaggttttggagcccacctaggggtaggtgcagctttattggcttttctgtggattc c.*1800
. . . . . . g.327562
tctcagtggacccacaccatctctatgtctctccactctcctgccttcagccatagcaaa c.*1860
. . . . . . g.327622
gaatccttccaaaatcaaactcttcacttttttgactcaagtgttgttgttcagtctctc c.*1920
. . . . . . g.327682
gcgtgtcaatgtggtcatggttcatgaaaccggaccctcaagatggatgattgcttttaa c.*1980
. . . . . . g.327742
ctactgccagctgatgtctctcagcccctgccctcatacaagatttttctcagccttcag c.*2040
. . . . . . g.327802
cctaccactgcagaatccgatgtgacccaccattagggagtctgcatcttggaagagttg c.*2100
. . . . . . g.327862
gaaataaccctttaacatcaacatgcttcaaagactttttgcctttggcctagtaagatg c.*2160
. . . . . . g.327922
cctctccagctactgagcccacaagtaacatgagcggataaaaagagacttgtttgtgct c.*2220
. . . . . . g.327982
agaaatgagggtctatgctatgagggggtccaagactctggcgaaatgtgctttttcatc c.*2280
. . . . . . g.328042
aatggagaaatgaaaggaaaacacaagcaagaaaaaagttaacttgtattatgtattttt c.*2340
. . . . . . g.328102
actacacttttcttaaaaatagagcattgggaaaactctgaaagagactgacatttttct c.*2400
. . . . . . g.328162
caacaggaatccatacttaacagttctggctttcattaaattttgctctttggtacctgg c.*2460
. . . . . . g.328222
gccttttatttaacatctatatttgttttaactctcttggcagatgtgtgaaaggattct c.*2520
. . . . . . g.328282
tgcttgatcaaacactaagtatttttttggttcttgtttttctttcaaatagccaggttt c.*2580
. . . . . . g.328342
ttttcttttggtatttgcataaaatgaaaatatcaccgaatattaaatcactgtggatcc c.*2640
g.328346
atta c.*2644
(downstream sequence)
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