(used for variant description)
(last modified November 14, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_007327.3 in the GRIN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011507.1, covering GRIN1 transcript NM_007327.3.
(upstream sequence)
. . . g.5030
gtcgccgcagcgtccggaccggaaccagcg c.-301
. . . . . . g.5090
ccgtccgcggagccgccgccgccgccgccgggccctttccaagccgggcgctcggagctg c.-241
. . . . . . g.5150
tgcccggccccgcttcagcaccgcggacagcgccggccgcgtggggctgagccccgagcc c.-181
. . . . . . g.5210
cccgcgcacgcttcagcgccccttccctcggccgacgtcccgggaccgccgctccggggg c.-121
. . . . . . g.5270
agacgtggcgtccgcagcccgcggggccgggcgagcgcaggacggcccggaagccccgcg c.-61
. . . . . . g.5330
ggggatgcgccgagggccccgcgttcgcgccgcgcagagccaggcccgcggcccgagccc c.-1
. . . . . . g.5390
ATGAGCACCATGCGCCTGCTGACGCTCGCCCTGCTGTTCTCCTGCTCCGTCGCCCGTGCC c.60
M S T M R L L T L A L L F S C S V A R A p.20
. . . . . . g.5450
GCGTGCGACCCCAAGATCGTCAACATTGGCGCGGTGCTGAGCACGCGGAAGCACGAGCAG c.120
A C D P K I V N I G A V L S T R K H E Q p.40
. . . . . . g.5510
ATGTTCCGCGAGGCCGTGAACCAGGCCAACAAGCGGCACGGCTCCTGGAAGATTCAGCTC c.180
M F R E A V N Q A N K R H G S W K I Q L p.60
. . . . . . g.5570
AATGCCACCTCCGTCACGCACAAGCCCAACGCCATCCAGATGGCTCTGTCGGTGTGCGAG c.240
N A T S V T H K P N A I Q M A L S V C E p.80
. | 02 . . . . g.7898
GACCTCATCTCCAGCCAG | GTCTACGCCATCCTAGTTAGCCATCCACCTACCCCCAACGAC c.300
D L I S S Q | V Y A I L V S H P P T P N D p.100
. . . . . . g.7958
CACTTCACTCCCACCCCTGTCTCCTACACAGCCGGCTTCTACCGCATACCCGTGCTGGGG c.360
H F T P T P V S Y T A G F Y R I P V L G p.120
. . . | 03 . . . g.11596
CTGACCACCCGCATGTCCATCTACTCGGACAAG | AGCATCCACCTGAGCTTCCTGCGCACC c.420
L T T R M S I Y S D K | S I H L S F L R T p.140
. . . . . . g.11656
GTGCCGCCCTACTCCCACCAGTCCAGCGTGTGGTTTGAGATGATGCGTGTCTACAGCTGG c.480
V P P Y S H Q S S V W F E M M R V Y S W p.160
. . . . . . g.11716
AACCACATCATCCTGCTGGTCAGCGACGACCACGAGGGCCGGGCGGCTCAGAAACGCCTG c.540
N H I I L L V S D D H E G R A A Q K R L p.180
. . . | 04 . . . g.14882
GAGACGCTGCTGGAGGAGCGTGAGTCCAAG | GCAGAGAAGGTGCTGCAGTTTGACCCAGGG c.600
E T L L E E R E S K | A E K V L Q F D P G p.200
. . . . . . g.14942
ACCAAGAACGTGACGGCCCTGCTGATGGAGGCGAAAGAGCTGGAGGCCCGGGTCATCATC c.660
T K N V T A L L M E A K E L E A R V I I p.220
. | 05 . . . . . g.22561
CTTTCTGCCAG | CGAGGACGATGCTGCCACTGTATACCGCGCAGCCGCGATGCTGAACATG c.720
L S A S | E D D A A T V Y R A A A M L N M p.240
. . . . . . g.22621
ACGGGCTCCGGGTACGTGTGGCTGGTCGGCGAGCGCGAGATCTCGGGGAACGCCCTGCGC c.780
T G S G Y V W L V G E R E I S G N A L R p.260
. | 06 . . . . . g.22753
TACGCCCCAGACG | GCATCCTCGGGCTGCAGCTCATCAACGGCAAGAACGAGTCGGCCCAC c.840
Y A P D G | I L G L Q L I N G K N E S A H p.280
. . . . . . g.22813
ATCAGCGACGCCGTGGGCGTGGTGGCCCAGGCCGTGCACGAGCTCCTCGAGAAGGAGAAC c.900
I S D A V G V V A Q A V H E L L E K E N p.300
. . . . . . g.22873
ATCACCGACCCGCCGCGGGGCTGCGTGGGCAACACCAACATCTGGAAGACCGGGCCGCTC c.960
I T D P P R G C V G N T N I W K T G P L p.320
| 07 . . . . . g.24274
TTCAAGAG | AGTGCTGATGTCTTCCAAGTATGCGGATGGGGTGACTGGTCGCGTGGAGTTC c.1020
F K R | V L M S S K Y A D G V T G R V E F p.340
. . . . . . g.24334
AATGAGGATGGGGACCGGAAGTTCGCCAACTACAGCATCATGAACCTGCAGAACCGCAAG c.1080
N E D G D R K F A N Y S I M N L Q N R K p.360
. . . | 08 . . . g.24491
CTGGTGCAAGTGGGCATCTACAATGGCACCCAC | GTCATCCCTAATGACAGGAAGATCATC c.1140
L V Q V G I Y N G T H | V I P N D R K I I p.380
. . . . . | 09. g.26902
TGGCCAGGCGGAGAGACAGAGAAGCCTCGAGGGTACCAGATGTCCACCAGACTGAAG | ATT c.1200
W P G G E T E K P R G Y Q M S T R L K | I p.400
. . . . . . g.26962
GTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGC c.1260
V T I H Q E P F V Y V K P T L S D G T C p.420
. . . . . . g.27022
AAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAAC c.1320
K E E F T V N G D P V K K V I C T G P N p.440
. | 10 . . . . g.27173
GACACGTCGCCGGGCAGCC | CCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATC c.1380
D T S P G S P | R H T V P Q C C Y G F C I p.460
. . . . . . g.27233
GACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCA c.1440
D L L I K L A R T M N F T Y E V H L V A p.480
. . | 11. . . . g.27800
GATGGCAAGTTCGGCACACAGGAGCGG | GTGAACAACAGCAACAAGAAGGAGTGGAATGGG c.1500
D G K F G T Q E R | V N N S N K K E W N G p.500
. . . . . . g.27860
ATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAAC c.1560
M M G E L L S G Q A D M I V A P L T I N p.520
. . . . . . g.27920
AACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATT c.1620
N E R A Q Y I E F S K P F K Y Q G L T I p.540
. | 12 . . . . . g.28063
CTGGTCAAGAAG | GAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGC c.1680
L V K K | E I P R S T L D S F M Q P F Q S p.560
. . . . . . g.28123
ACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTG c.1740
T L W L L V G L S V H V V A V M L Y L L p.580
. | 13 . . . . . g.28296
GACCGCTTCAG | CCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCA c.1800
D R F S | P F G R F K V N S E E E E E D A p.600
. . . . . . g.28356
CTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGG c.1860
L T L S S A M W F S W G V L L N S G I G p.620
| 14 . . . . . . g.28490
GAAG | GCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCC c.1920
E G | A P R S F S A R I L G M V W A G F A p.640
. . . . . . g.28550
ATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCG c.1980
M I I V A S Y T A N L A A F L V L D R P p.660
. . . | 15 . . . g.28716
GAGGAGCGCATCACGGGCATCAACGACCCTCGG | CTGAGGAACCCCTCGGACAAGTTTATC c.2040
E E R I T G I N D P R | L R N P S D K F I p.680
. . . . . . g.28776
TACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGC c.2100
Y A T V K Q S S V D I Y F R R Q V E L S p.700
. . . . . . g.28836
ACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCC c.2160
T M Y R H M E K H N Y E S A A E A I Q A p.720
. | 16 . . . . . g.29061
GTGAGAGACAA | CAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCC c.2220
V R D N | K L H A F I W D S A V L E F E A p.740
. . . . . . g.29121
TCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATA c.2280
S Q K C D L V T T G E L F F R S G F G I p.760
. . . . . | 17 . g.29409
GGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAA | GTCCCAC c.2340
G M R K D S P W K Q N V S L S I L K | S H p.780
. . . . . . g.29469
GAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCG c.2400
E N G F M E D L D K T W V R Y Q E C D S p.800
. . . . | 18 . . g.29619
CGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCG | GGGTCTTCATGCTGGTA c.2460
R S N A P A T L T F E N M A G | V F M L V p.820
. . . . . . g.29679
GCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCAC c.2520
A G G I V A G I F L I F I E I A Y K R H p.840
. . . . . . g.29739
AAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAG c.2580
K D A R R K Q M Q L A F A A V N V W R K p.860
| 19 . . . . . g.31080
AACCTGCAG | GATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTT c.2640
N L Q | D R K S G R A E P D P K K K A T F p.880
. . . . . . g.31140
AGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACG c.2700
R A I T S T L A S S F K R R R S S K D T p.900
| 20 . . . . . . g.33314
| AGCACCGGGGGTGGACGCGGCGCTTTGCAAAACCAAAAAGACACAGTGCTGCCGCGACGC c.2760
| S T G G G R G A L Q N Q K D T V L P R R p.920
. . . . . g.33371
GCTATTGAGAGGGAGGAGGGCCAGCTGCAGCTGTGTTCCCGTCATAGGGAGAGCTGA c.2817
A I E R E E G Q L Q L C S R H R E S X p.938
. . . . . . g.33431
gactccccgcccgccctcctctgccccctcccccgcagacagacagacagacggacggga c.*60
. . . . . . g.33491
cagcggcccggcccacgcagagccccggagcaccacggggtcgggggaggagcaccccca c.*120
. . . . . . g.33551
gcctcccccaggctgcgcctgcccgcccgccggttggccggctggccggtccaccccgtc c.*180
. . . . . . g.33611
ccggccccgcgcgtgcccccagcgtggggctaacgggcgccttgtctgtgtatttctatt c.*240
. . . . . . g.33671
ttgcagcagtaccatcccactgatatcacgggcccgctcaacctctcagatccctcggtc c.*300
. . . . . . g.33731
agcaccgtggtgtgaggcccccggaggcgcccacctgcccagttagcccggccaaggaca c.*360
. . . . . . g.33791
ctgatgggtcctgctgctcgggaaggcctgagggaagcccacccgccccagagactgccc c.*420
. . . . . . g.33851
accctgggcctcccgtccgtccgcccgcccaccccgctgcctggcgggcagcccctgctg c.*480
. . . . . . g.33911
gaccaaggtgcggaccggagcggctgaggacggggcagagctgagtcggctgggcagggc c.*540
. . . . . . g.33971
cgcagggcgctccggcagaggcagggccctggggtctctgagcagtggggagcgggggct c.*600
. . . . . . g.34031
aactggccccaggcggaggggcttggagcagagacggcagccccatccttcccgcagcac c.*660
. . . . . . g.34091
cagcctgagccacagtggggcccatggccccagctggctgggtcgcccctcctcgggcgc c.*720
. . . . . . g.34151
ctgcgctcctctgcagcctgagctccaccctcccctcttcttgcggcaccgcccacccac c.*780
. . . . . . g.34211
accccgtctgccccttgaccccacacgccggggctggccctgccctcccccacggccgtc c.*840
. . . . . . g.34271
cctgacttcccagctggcagcgcctcccgccgcctcgggccgcctcctccagactcgaga c.*900
. . . . . . g.34331
gggctgagcccctcctctcctcgtccggcctgcagcccagaacgggcctccccgggggtc c.*960
. . . . . . g.34391
cccggacgctggctcgggactgtcttcaaccctgccctgcaccttgggcacgggagagcg c.*1020
. . . . . . g.34451
ccacccgcccgcccccgccctcgctccgggtgcgtgaccggcccgccaccttgtacagaa c.*1080
. . . . . . g.34511
ccagcactcccagggcccgagcgcgtgccttccccgtgcggcccgtgcgcagccgcgctc c.*1140
. . . . . . g.34571
tgcccctccgtccccagggtgcaggcgcgcaccgcccaacccccacctcccggtgtatgc c.*1200
. . . g.34606
agtggtgatgcctaaaggaatgtcacgcagttttc c.*1235
(downstream sequence)
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