(used for variant description)
(last modified April 18, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001130955.1 in the ARHGEF18 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047135.1, covering ARHGEF18 transcript NM_001130955.1.
(upstream sequence)
. g.49588
aaacaccatgccc c.-241
. . . . . . g.49648
tgccatctctgggtcttagagtcaccctaacatctgatctagattaattatcatcatgtg c.-181
. . . . . . g.49708
cgaggttttggcatgaagcacgccaggctcaccgtttcatgatcttagactatttacagc c.-121
. . . . . . g.49768
aaactcaaacagctcacttgctttttacaccctgcaaagaccaagggagagcctggaggg c.-61
. . . . . . g.49828
gttgttttttttttctgttttattctatcaaagcagcaaatactgcaatttccacagtaa c.-1
. . . . . . g.49888
ATGGTCACAGTGGGGACCAATATCCTGCCCTCCAGACCCGCTGCTTCAGCCAATACAGCA c.60
M V T V G T N I L P S R P A A S A N T A p.20
. . . . . . g.49948
AGGGAAGACGCAGCTCTGTTTTCTAGAAGGATCCCACCGAGGCATAAAAACGGCGCAGCC c.120
R E D A A L F S R R I P P R H K N G A A p.40
. . . . . . g.50008
CAGCCTGGCGCCGCGCCGGGTCCCGGAGCCCCGGGCGCGAACATGGGGAATGCGCACTCC c.180
Q P G A A P G P G A P G A N M G N A H S p.60
. . . . . . g.50068
AAAAGCGGGGACAGGCACAGCGCGCTCCCCGGCCGCCCCGAGCTGTCTTTTTACGGCTCT c.240
K S G D R H S A L P G R P E L S F Y G S p.80
. . . . . . g.50128
TTCCCCAGGAAATGGAGCGAGAACGTCTTCTTGGATAACGAGCTGCTGACCTCCAAGATC c.300
F P R K W S E N V F L D N E L L T S K I p.100
. . . . . . g.50188
CTGTCTGTGCTGCGGCCGCAGTCGGAGCGGGGCTTCCGCGCCGGGGACCTCCGCTACCCG c.360
L S V L R P Q S E R G F R A G D L R Y P p.120
. . . . . . g.50248
ACCCACTTTCTCAGCACCAACTCTGTCCTTGCCTCTGTCACAGCCTCGCTCAAGGAGCAC c.420
T H F L S T N S V L A S V T A S L K E H p.140
. . . . . . g.50308
CCCCGGGGCACCCTCCTGTCCGATGGCAGCCCGGCCCTGTCCAGGAATGTCGGTATGACG c.480
P R G T L L S D G S P A L S R N V G M T p.160
. . . . . . g.50368
GTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACGCAACTC c.540
V S Q K G G P Q P T P S P A G P G T Q L p.180
| 02 . . . . . . g.51598
GG | ACCAATCACAGGAGAGATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAGCAGACA c.600
G | P I T G E M D E A D S A F L K F K Q T p.200
. . . . . | 03 . g.51804
GCTGATGACTCTCTGTCCCTTACATCTCCAAACACCGAGTCCATTTTTGTAGAAG | ATCCC c.660
A D D S L S L T S P N T E S I F V E D | P p.220
. . . . . . g.51864
TACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCTGAGTCC c.720
Y T A S L R S E I E S D G H E F E A E S p.240
. . . . . . g.51924
TGGAGCCTCGCCGTGGATGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTGAAAAGA c.780
W S L A V D A A Y A K K Q K R E V V K R p.260
. | 04 . . . . . g.54135
CAAGATGTCCTTTATG | AGCTGATGCAGACAGAGGTGCACCACGTGCGGACGCTCAAGATC c.840
Q D V L Y E | L M Q T E V H H V R T L K I p.280
. . . . . . g.54195
ATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAGGCCATT c.900
M L K V Y S R A L Q E E L Q F S S K A I p.300
. . . . . . g.54255
GGCCGCCTCTTCCCATGCGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTCGCTCGG c.960
G R L F P C A D D L L E T H S H F L A R p.320
. . . . . . g.54315
CTCAAGGAGCGCCGCCAGGAGTCCCTGGAGGAGGGCAGTGACCGGAATTATGTCATCCAG c.1020
L K E R R Q E S L E E G S D R N Y V I Q p.340
. . | 05. . . . g.56963
AAAATCGGCGACCTCCTGGTTCAGCAG | TTTTCAGGTGAAAATGGGGAGAGAATGAAAGAA c.1080
K I G D L L V Q Q | F S G E N G E R M K E p.360
. . . . . . g.57023
AAGTACGGTGTGTTTTGTAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTGCTGCTT c.1140
K Y G V F C S G H N E A V S H Y K L L L p.380
. . . | 06 . . . g.61063
CAGCAAAACAAGAAATTTCAAAACTTGATCAAG | AAAATTGGCAACTTCTCCATCGTGCGG c.1200
Q Q N K K F Q N L I K | K I G N F S I V R p.400
. . . . . . g.61123
CGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATACCCAGTG c.1260
R L G V Q E C I L L V T Q R I T K Y P V p.420
. . . | 07 . . . g.63383
CTGGTGGAGCGCATCATCCAGAACACGGAAG | CTGGCACTGAGGACTATGAAGACCTGACC c.1320
L V E R I I Q N T E A | G T E D Y E D L T p.440
. . . . . . g.63443
CAGGCCTTGAACCTCATCAAAGATATCATCTCACAAGTGGACGCCAAGGTCAGTGAGTGT c.1380
Q A L N L I K D I I S Q V D A K V S E C p.460
. . . . . . g.63503
GAGAAGGGCCAGCGCCTCAGGGAGATCGCAGGGAAGATGGACCTGAAGTCTTCCAGCAAA c.1440
E K G Q R L R E I A G K M D L K S S S K p.480
. . . . . . g.63563
CTCAAGAACGGGCTCACCTTCCGCAAGGAAGACATGCTTCAGCGGCAGCTCCACCTGGAG c.1500
L K N G L T F R K E D M L Q R Q L H L E p.500
. . . . | 08 . . g.66234
GGCATGCTATGCTGGAAGACCACATCAGGGCGCTTGAAAG | ATATCCTGGCTATCCTGCTG c.1560
G M L C W K T T S G R L K D | I L A I L L p.520
. . . . . | 09. g.68402
ACCGACGTACTTTTGCTGCTACAAGAAAAAGATCAGAAATACGTCTTTGCTTCTGTG | GAC c.1620
T D V L L L L Q E K D Q K Y V F A S V | D p.540
. . . . . . g.68462
TCAAAGCCACCCGTCATCTCGTTACAAAAGCTCATCGTGAGGGAAGTGGCCAACGAGGAG c.1680
S K P P V I S L Q K L I V R E V A N E E p.560
. . . . . . g.68522
AAAGCGATGTTTCTGATCAGCGCCTCCTTGCAAGGGCCGGAGATGTATGAAATCTACACG c.1740
K A M F L I S A S L Q G P E M Y E I Y T p.580
. . . . . | 10 . g.69794
AGCTCCAAAGAGGACAGGAACGCCTGGATGGCCCACATCCAAAGGGCTGTGGAGAG | CTGC c.1800
S S K E D R N A W M A H I Q R A V E S | C p.600
. . . . . . g.69854
CCTGACGAGGAGGAGGGGCCCTTCAGCCTGCCCGAAGAGGAAAGGAAGGTGGTCGAGGCC c.1860
P D E E E G P F S L P E E E R K V V E A p.620
. . | 11 . . . g.72071
CGCGCCACGAGACTCCGGGACTTTCAAG | AGCGGTTGAGCATGAAAGACCAGCTGATCGCA c.1920
R A T R L R D F Q E | R L S M K D Q L I A p.640
. . . . . . g.72131
CAGAGCCTCCTAGAGAAACAGCAGATCTACCTGGAGATGGCCGAGATGGGCGGCCTCGAA c.1980
Q S L L E K Q Q I Y L E M A E M G G L E p.660
. . . . . . g.72191
GACCTGCCCCAGCCCCGAGGCCTATTCCGTGGAGGGGACCCATCCGAGACCCTGCAGGGG c.2040
D L P Q P R G L F R G G D P S E T L Q G p.680
. . . | 12 . . . g.73734
GAGCTAATTCTCAAGTCGGCCATGAGCGAGA | TCGAGGGCATCCAGAGCCTGATCTGCAGG c.2100
E L I L K S A M S E I | E G I Q S L I C R p.700
. . . . . . g.73794
CAGCTGGGCAGCGCCAACGGCCAGGCGGAAGACGGAGGCAGCTCCACAGGCCCGCCCAGG c.2160
Q L G S A N G Q A E D G G S S T G P P R p.720
. . . . | 13 . g.74458
AGGGCTGAGACCTTCGCGGGCTACGACTGCACAAACAGCCCCACCAAGA | ATGGCAGTTTC c.2220
R A E T F A G Y D C T N S P T K N | G S F p.740
. . . . . . g.74518
AAGAAGAAAGTCAGCAGCACTGACCCCAGGCCCCGAGACTGGCGAGGCCCCCCAAACAGC c.2280
K K K V S S T D P R P R D W R G P P N S p.760
. . . . . . g.74578
CCGGACTTGAAGCTCAGTGACAGTGACATTCCTGGGAGCTCTGAGGAATCGCCGCAGGTG c.2340
P D L K L S D S D I P G S S E E S P Q V p.780
| 14 . . . . . | 15. g.76961
| GTGGAGGCGCCAGGCACGGAATCCGATCCCCGTCTGCCCACCGTCCTGGAGTCGGAG | CTT c.2400
| V E A P G T E S D P R L P T V L E S E | L p.800
. . . . | 16 . . g.77116
GTCCAGCGGATCCAGACACTGTCCCAGCTGCTCCTGAACCTTCAG | GCGGTAATCGCCCAC c.2460
V Q R I Q T L S Q L L L N L Q | A V I A H p.820
. . . . . . g.77176
CAGGACAGCTATGTGGAGACGCAGCGGGCTGCCATCCAGGAGCGGGAGAAGCAGTTCCGG c.2520
Q D S Y V E T Q R A A I Q E R E K Q F R p.840
. . . . . . g.77236
CTGCAGTCGACGCGTGGGAACCTGCTGCTGGAGCAGGAGCGGCAACGCAACTTCGAGAAG c.2580
L Q S T R G N L L L E Q E R Q R N F E K p.860
. . . . . . g.77296
CAGCGGGAGGAGCGCGCGGCCCTGGAGAAGCTGCAGAGCCAGCTGCGGCACGAGCAGCAG c.2640
Q R E E R A A L E K L Q S Q L R H E Q Q p.880
. . . . . . g.77356
CGCTGGGAGCGCGAGCGCCAGTGGCAGCACCAGGAGCTGGAGCGTGCGGGCGCGCGGCTG c.2700
R W E R E R Q W Q H Q E L E R A G A R L p.900
. . . . . . g.77416
CAGGAGCGCGAGGGCGAGGCGCGGCAGCTACGCGAGCGGCTGGAGCAGGAGCGGGCCGAG c.2760
Q E R E G E A R Q L R E R L E Q E R A E p.920
. . . . . . g.77476
CTGGAGCGCCAGCGCCAGGCCTACCAGCACGACCTGGAGCGGCTGCGCGAGGCCCAGCGT c.2820
L E R Q R Q A Y Q H D L E R L R E A Q R p.940
. . . . . . g.77536
GCCGTGGAGCGCGAGCGGGAGCGCCTGGAGCTGCTGCGCCGCCTCAAGAAGCAGAACACC c.2880
A V E R E R E R L E L L R R L K K Q N T p.960
. . . | 17 . . . g.78736
GCGCCAGGCGCGCTGCCGCCCGACACACTGGCCGAG | GCCCAGCCCCCAAGCCACCCTCCC c.2940
A P G A L P P D T L A E | A Q P P S H P P p.980
. . . . . . g.78796
AGCTTCAACGGGGAAGGGCTGGAGGGCCCTCGTGTGAGCATGCTGCCATCCGGCGTGGGG c.3000
S F N G E G L E G P R V S M L P S G V G p.1000
. . . . . . g.78856
CCAGAGTACGCAGAGCGCCCCGAGGTGGCTCGCCGGGACAGCGCCCCCACCGAGAACCGG c.3060
P E Y A E R P E V A R R D S A P T E N R p.1020
. . . . . . g.78916
CTGGCCAAGAGCGATGTGCCCATCCAGCTGCTCAGCGCCACCAACCAGTTCCAGAGGCAG c.3120
L A K S D V P I Q L L S A T N Q F Q R Q p.1040
. . . . . . g.78976
GCGGCCGTGCAGCAGCAGATCCCCACCAAGCTGGCGGCCTCCACCAAGGGTGGCAAGGAC c.3180
A A V Q Q Q I P T K L A A S T K G G K D p.1060
. . . . | 18 . . g.79808
AAGGGCGGCAAGAGCAGGGGCTCTCAGCGCTGGGAGAGCTCAG | CGTCCTTCGACCTGAAG c.3240
K G G K S R G S Q R W E S S A | S F D L K p.1080
. . . . . . g.79868
CAGCAGCTGCTGCTCAACAAGCTCATGGGGAAAGATGAGAGCACCTCACGGAACCGCCGC c.3300
Q Q L L L N K L M G K D E S T S R N R R p.1100
. . . . | 19 . g.80024
TCGCTGAGCCCTATCCTGCCCGGCAGACACAGTCCTGCGCCCCCACCAG | ACCCTGGCTTC c.3360
S L S P I L P G R H S P A P P P D | P G F p.1120
. . . . . . g.80084
CCCGCCCCGAGCCCACCGCCAGCTGACAGCCCCTCCGAGGGCTTCTCTCTCAAGGCCGGG c.3420
P A P S P P P A D S P S E G F S L K A G p.1140
. . . . . . g.80144
GGCACAGCCCTCCTGCCCGGGCCCCCAGCTCCCTCGCCACTGCCGGCCACACCACTCAGC c.3480
G T A L L P G P P A P S P L P A T P L S p.1160
. . . . g.80186
GCCAAGGAGGACGCCAGCAAAGAAGACGTCATCTTCTTCTAA | c.3523
A K E D A S K E D V I F F X p.1173
. | 20. . . . . g.80467
aagggccgtgactcaag | gaaagtttttaatggaaagttgagccagaactaaaccagggag c.*60
. . . . . . g.80527
ctgtctgaaatcatagcaccccatccgggtggcggggagatcaactccgagctgtttttc c.*120
. . . . . . g.80587
cgaggcagtgaggaacggtgccggctctgcacggagctgaggacaggacagaccttgctt c.*180
. . . . . . g.80647
tgagaaggagctgccggccggggccacgctccacagccgccgcgcgacagtggagccaag c.*240
. . . . . . g.80707
ggttagggcaccaggaggggccaggtggcgtcggcagcatctgtccccagaatcaggcag c.*300
. . . . . . g.80767
aatccacttcccaaacagagccccacgcaggttcaccatgaacctcagggtcagggaatg c.*360
. . . . . . g.80827
agccaggcacgggggcatgggcagagagggccacggggcagggcccactgagggaacatc c.*420
. . . . . . g.80887
agtggccctccagtcaggttctgtgggtttggaagcccatcgtgaaaggggctgaccttt c.*480
. . . . . . g.80947
gcccctttttacttggcattggttttgaaaccagctgtttcccaaactctgcttcccaag c.*540
. . . . . . g.81007
ggcaaccgttgctgttcacacgctcagcctgtctgggggagcgggcctctagcttcagcc c.*600
. . . . . . g.81067
agggcgggtacacaccctgggcacagggtcctcagcccccgggaaatgagctcccagggc c.*660
. . . . . . g.81127
tggcgtcccaccttccaggtgggggctggcacatcacagactgtcgagagcgccatgtcc c.*720
. . . . . . g.81187
cagggcatgcagaggatgcacctagagacgttgcagcaagtggacaagtggccgctgtgc c.*780
. . . . . . g.81247
gggcccctcgcttgtagtgagctgttgcagcttacggtccgttccctggaggggtggagg c.*840
. . . . . . g.81307
aaggaggtgttgggcagcatcaaaggtgctgggacatcccagggtggtgagatccatcca c.*900
. . . . . . g.81367
cgatccagctccggtggagaaagggcccatgtcaagccttgttctgcaccccaagcattg c.*960
. . . . . . g.81427
gtggtaggactgggtcctggctgatcgtccttgttcccagtggggtacatgtgagcccct c.*1020
. . . . . . g.81487
gccagggccaagtccttctcccgaacccagggtcctgggaactgcagatcccggggggat c.*1080
. . . . . . g.81547
tcagcccttctcccactgtgctggcagaggcactcctgtgacgctgaatacagtgaacag c.*1140
. . . . . . g.81607
ggacattcccgccactcggggacagatgggcacaagggaggggaaactccatcaggaagt c.*1200
. . . . . . g.81667
gctcccctgggcagaggcgcccactgggtgctgtgggctcaggagggggcggggcaggag c.*1260
. . . . . . g.81727
ctggtgccaaccgggaaccagagccccacagccatacagcccattggtgacaaggtcctg c.*1320
. . . . . . g.81787
agaacacagtggccaggtgtccccaggctcctggcccctccgacgacctcaactctgccc c.*1380
. . . . . . g.81847
agcccggtccctggccatcagcgacgctgtccgccccccgtcagatcccatgtgtgccat c.*1440
. . . . . . g.81907
gtttatcatcagtgttttgtatttttgtactgagtatcggagcactttacagaagctgac c.*1500
. . . . . . g.81967
tgtacattcctgttctgttgtgaagagaacattcccagaccctggcaccctcctgagccg c.*1560
. . . . . . g.82027
gcgtgtgccggtccagccctccgagatgccacaattccttggatgggggagaagttcaag c.*1620
. . . . . . g.82087
gaatttctgctcggccacgcggtgggaaccccgcgtccccgccatgtggcagaggggtct c.*1680
. . . . . . g.82147
cagtcgtgctaggcatcgggcggcagcgccgacagcccttccctcgccagtgcccctcgg c.*1740
. . . . . . g.82207
ccactcctgggttggagcccgattttatttgtaaagttgacagtcgagcaaatgttccta c.*1800
. . . . . . g.82267
ttttcgtgggatctgcacacgtctttgtcagttgtggtcatgatcttagtcacctgctaa c.*1860
. . . . . . g.82327
ttatttttacaatgattacaacatttcctcactgcgggatatttctgacccgctttagaa c.*1920
. . . . g.82373
cttaagacctgattctagcaataaacgtgtccgagatgagcggtga c.*1966
(downstream sequence)
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