(used for variant description)
(last modified December 22, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001242729.1 in the ARHGEF38 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering ARHGEF38 transcript NM_001242729.1.
(upstream sequence)
. . g.5026
agtcacagccaggtaaccctggagtg c.-121
. . . . . . g.5086
aagcggtttagttagaagggagcagataaactcgtcactctagtagctttaaccctcacc c.-61
. . . . . . g.5146
ctgaggcaccttagcaatcagccattgcctgcaagcctccaaagcttgtctttgcctaat c.-1
. . . . . . g.5206
ATGGAGCCCAAAGAAGCCACTGGGAAAGAAAACATGGTCACCAAGAAAAAGAATCTGGCC c.60
M E P K E A T G K E N M V T K K K N L A p.20
. . . . . . g.5266
TTCTTGAGGTCTAGACTCTATATGCTGGAGAGAAGGAAGACTGACACTGTGGTTGAGAGC c.120
F L R S R L Y M L E R R K T D T V V E S p.40
. . . . . . g.5326
AGTGTTTCTGGGGACCACTCTGGCACCTTGAGGAGGAGCCAATCTGACAGGACTGAATAC c.180
S V S G D H S G T L R R S Q S D R T E Y p.60
. | 02 . . . . . g.41672
AACCAGAAATTACAAG | AAAAGATGACTCCACAGGGTGAGTGTTCTGTAGCTGAGACCTTA c.240
N Q K L Q E | K M T P Q G E C S V A E T L p.80
. . . . . . g.41732
ACCCCAGAGGAAGAGCATCATATGAAGAGGATGATGGCAAAGCGGGAAAAGATCATTAAG c.300
T P E E E H H M K R M M A K R E K I I K p.100
. . . . . . g.41792
GAGCTGATACAGACAGAAAAGGATTATCTCAATGATCTAGAGCTGTGTGTTAGGGAAGTG c.360
E L I Q T E K D Y L N D L E L C V R E V p.120
. . | 03 . . . . g.65800
GTTCAGCCCCTGAGAAATAAAAAG | ACTGATAGGCTGGATGTGGATAGCTTGTTTAGCAAC c.420
V Q P L R N K K | T D R L D V D S L F S N p.140
. . . . . . g.65860
ATTGAGTCCGTGCATCAGATATCAGCCAAGCTGCTGTCATTGTTGGAAGAGGCCACAACA c.480
I E S V H Q I S A K L L S L L E E A T T p.160
. . | 04 . . . g.83310
GACGTGGAACCGGCCATGCAAGTAATTG | GAGAAGTATTCTTGCAGATTAAAGGGCCACTG c.540
D V E P A M Q V I G | E V F L Q I K G P L p.180
. . . . . . g.83370
GAAGATATTTATAAAATCTACTGCTATCACCATGATGAAGCACATAGTATACTGGAGTCC c.600
E D I Y K I Y C Y H H D E A H S I L E S p.200
. . . . . | 05 . g.88787
TATGAAAAGGAAGAAGAGCTGAAGGAACATTTGAGCCACTGTATCCAGTCCTTAAA | GAAA c.660
Y E K E E E L K E H L S H C I Q S L K | K p.220
. | 06 . . . . . g.97614
ATATACATGCAAGA | AGGCAAACCAAACTTATTGGACATGGGCTCTTTGATGATCAAACCA c.720
I Y M Q E | G K P N L L D M G S L M I K P p.240
. . . . . . g.97674
ATTCAACGTGTGATGAAATACCCCCTATTACTGTGCGAACTTCGGAATTCCACCCCTCCC c.780
I Q R V M K Y P L L L C E L R N S T P P p.260
. . . . . . g.97734
TCTCACCCAGATTACAGAGCACTGGACGATGCCTTTGCTGCTGTGAAGGACATTAATGTT c.840
S H P D Y R A L D D A F A A V K D I N V p.280
. . . | 07 . . . g.100955
AACATCAATGAACTTAAAAGAAGGAAAGATTTAG | TTCTAAAATACAAGAAGAATGACGAG c.900
N I N E L K R R K D L V | L K Y K K N D E p.300
. . . . . . g.101015
GATGAATCACTTAAAGACAAATTGTCTAAACTAAATATTCATTCAATTAGCAAGAAATCA c.960
D E S L K D K L S K L N I H S I S K K S p.320
. . . . | 08 . g.106457
AAAAGAGTGACAAATCATCTGAAGATTCTGACCAGAGGAGAATCACAG | GTTAAAGACAAT c.1020
K R V T N H L K I L T R G E S Q | V K D N p.340
. . . . . . g.106517
ACCTTTAACAGAGAAGAAAAGCTGTTTAGAGCTTTAGAAAAGACTGTGAGGCTTTGTGTG c.1080
T F N R E E K L F R A L E K T V R L C V p.360
. . . | 09 . . . g.108010
AAGAACATTTCACTCTGTCTTCAACACATACAG | GATGCCATGCCCCTGGCTCTGCAGAGT c.1140
K N I S L C L Q H I Q | D A M P L A L Q S p.380
. . . . . . g.108070
GTGATGGACCTTCAGGAGATTTCATACAACAAAGACGATGAGATGGACTATTCTGAGACC c.1200
V M D L Q E I S Y N K D D E M D Y S E T p.400
. . . | 10 . . . g.111461
CTAAGTAATGCCTTAAATTCGTGTCATGACTTT | GCATCTCACTTACAGAGACTCATCCTG c.1260
L S N A L N S C H D F | A S H L Q R L I L p.420
. . . . . . g.111521
ACCCCCTTGTCAGCCCTGCTGTCCTTATTCCCAGGGCCTCACAAGCTCATCCAGAAACGC c.1320
T P L S A L L S L F P G P H K L I Q K R p.440
. . . . . . g.111581
TATGACAAACTGCTGGATTGCAACAGCTACCTGCAGCGATCAACGGGAGAGGAGTCAGAC c.1380
Y D K L L D C N S Y L Q R S T G E E S D p.460
. . . . . . g.111641
TTGGCCAAAAAGGAGTATGAGGCCCTCAACGCCCAGCTTGTGGAGGAGCTCCAGGCATTC c.1440
L A K K E Y E A L N A Q L V E E L Q A F p.480
. . . . . . g.111701
AACCAGGCTGCTCGGAAGATTCTGTTGAACTGTCTATGCAGCTTCATTACCCTCCTTAGG c.1500
N Q A A R K I L L N C L C S F I T L L R p.500
. . . . | 11 . . g.118572
GACCTGATGCTCGTGGCACAGCAGGCTTACTCCACACTTGTGCCG | ATGCCACTGTTGGTT c.1560
D L M L V A Q Q A Y S T L V P | M P L L V p.520
. . . . . . g.118632
TCAAGCATTTCTGAGATTCAGAATCAAGTACTAGAAGAGATCCAAAATTTGAATTGTGTG c.1620
S S I S E I Q N Q V L E E I Q N L N C V p.540
. . . . . . g.118692
AAAGAAAACAGTGCCACCTTTATTGAGAGGAAACTCAGTTTTGAAAAGAAGAAACCTGTG c.1680
K E N S A T F I E R K L S F E K K K P V p.560
| 12 . . . . . g.119560
CAGATTCTG | CCAGAAATGCCACATCAAACTGACATTCATCGCTCCAAACTTCTATCCACA c.1740
Q I L | P E M P H Q T D I H R S K L L S T p.580
. . . . . . g.119620
TATAGTGCAGAGGAACTCTATCAAGCTAAGCGCAAGTGCAATGCTACACAAGAATATGAC c.1800
Y S A E E L Y Q A K R K C N A T Q E Y D p.600
. . . . . . g.119680
ATCAATCTTCTGGAAGGAGACTTGGTGGCTGTGATAGAACAGAAAGATCCACTGGGGAGT c.1860
I N L L E G D L V A V I E Q K D P L G S p.620
. . | 13 . . . g.119856
ACAAGCAGGTGGCTTGTGGACACAGGAA | ATGTGAAAGGATATGTTTATTCCTCCTTCCTA c.1920
T S R W L V D T G N | V K G Y V Y S S F L p.640
. . . . . . g.119916
AAACCCTACAATCCAGCAAAAATGCAGAAAGTGGATGCTGAGAACAGGTTCTGTGACGAT c.1980
K P Y N P A K M Q K V D A E N R F C D D p.660
. . . . . . g.119976
GATTTTGAGAACATCAGCCTCTTCGTGTCTTCACGGCCAGCTAGTGACAGTGTCACAGGC c.2040
D F E N I S L F V S S R P A S D S V T G p.680
. . . . . . g.120036
ACCTCAGAAAGCAGCATTGGTGATAGCAGCTCATCTCTTAGTGGCACATGTGGAAAGTTT c.2100
T S E S S I G D S S S S L S G T C G K F p.700
. . . . | 14 . g.130144
GAAACAAATGGTACTGATGTTGACAGTTTTCAAGAAGTAGACGAACAG | ATTTTCTATGCA c.2160
E T N G T D V D S F Q E V D E Q | I F Y A p.720
. . . . . . g.130204
GTTCATGCTTTTCAAGCACGGAGTGACCATGAACTCAGCCTTCAGGAATACCAGAGAGTT c.2220
V H A F Q A R S D H E L S L Q E Y Q R V p.740
. . . . . . g.130264
CATATACTCAGGTTTTGTGACCTAAGTGGCAATAAAGAGTGGTGGTTAGCTGAAGCTCAA c.2280
H I L R F C D L S G N K E W W L A E A Q p.760
. . . . . g.130318
GGGCAGAAAGGATACGTGCCAGCTAACTACCTTGGAAAGATGACTTATGCTTAA c.2334
G Q K G Y V P A N Y L G K M T Y A X p.777
. . . . . . g.130378
gaaaataagccttcaacttttattttccagcaagttgttgattgactacctcataaaact c.*60
. . . . . . g.130438
gacattacaaaactttggaccagaaagcaagaaacctctgaactacagaaactgatactg c.*120
. . . . . . g.130498
tactgggttttcaggaatactgtacttcctaacaggattattgcatgaatgtattataaa c.*180
. . . . . . g.130558
ggatacatgttgaaagaaatactaagccaacagaaatagcaaagcaaatgacccaagctt c.*240
. . . . . . g.130618
caactatcaactatttaaaagtgaagatcttttgaaggagtaattatattcttttatcat c.*300
. . . . . . g.130678
caagaaaggttggatccaaaggtttttcaatttacttttttttttactgtatgatgtatt c.*360
. . . . . . g.130738
ttgccttaaatgtttttgtttttcatattgctctcttgcaaatgcatacatgtttatata c.*420
. . . . . . g.130798
catacatataaaccatatatattatgtagctttatacacgtatgtggataatatgaatta c.*480
. . . . . . g.130858
tacacctatatgtataaatcagagtatacaccaaatatacataagaagaatataccacca c.*540
. . . . . . g.130918
actagaagtctttgataatatattttgttaatgtttcgtttatatgttttgaactaaaac c.*600
. . . . . . g.130978
tgaataacttgatattaacatgtaacattactgaatgcacactatatgccagacattgtt c.*660
. . . . . . g.131038
ctaagtgctttatatgtagtaacttgtttaatattcaaaacattatgaagaaaccatggc c.*720
. . . . . . g.131098
ccaaaaaggtgaagtaatttaatccaaatcacattgctattaagtggtgggcctggactt c.*780
. . . . . . g.131158
aaacctaggtagtgtaaaccaaaaataaaattctaaggcttccaaccatctaaatagact c.*840
. . . . . . g.131218
tccccttcagccagggcttttttctttcttttcttgttgtttttttttttttttaaagag c.*900
. . . . . . g.131278
acaataaaaggaggtttttttattcaaaggtataactggataagtagatttgtttacaat c.*960
. . . . . . g.131338
cattcttgtgaaatacttttttaaaaaaatacgatcaacttctttgcaaatagtagacac c.*1020
. . . . . . g.131398
atacctcaacaatgatgacctaatttttgatccataatgtaagattaggtagaaataggc c.*1080
. . . . . . g.131458
aagctcacactgctaaattaactatcaaatactcagtcaaaactccatttgtggccccca c.*1140
. . . . . . g.131518
cttcttgatctatttctgttccacttcgtcttctaccatcttgccgactttcctgagcaa c.*1200
. . . . . . g.131578
ctgctttgtcgactctctctacctgaccaattgccagatcgacaacctgactggcctgac c.*1260
. . . . . . g.131638
cagccactcctctgtctggaattaaaagatgtttccatcataatattctttaatttcagg c.*1320
. . . . . . g.131698
taatttagctggcactgagagtatccagccggaatcatgccactttgcctgtaacctttg c.*1380
. . . . . . g.131758
actcaattggaggaatatcaaagcaaacacccatatttcctttcaggaggcacactctgg c.*1440
. . . . . . g.131818
taatctgagacactgcattactattcagctttctaagttctttccaagcacagctgacat c.*1500
. . . . . . g.131878
cctgtatttcctctaggctttccagagtcatggtcacaaaccccttatcagagttgatta c.*1560
. . . . . . g.131938
aagatcatggttcaaagcttgatacaccagaaatgtgggctaaagctgcagccaatgcat c.*1620
. . . . . . g.131998
ctatcgcccctttctcttctatcagtatctgagctgatggttggaaaaaaatcaacagca c.*1680
. . . . . . g.132058
gcataagaaatggaagccagagaccttatggcatccatgcttttaaatttaactaaatcc c.*1740
. . . . . . g.132118
attgtagaaggaacacctacacatttaaaagtaatttgtgttttttgttccacatgtctt c.*1800
. . . . . . g.132178
agttgacctttctcttggttgataaaaacatatacaaacccctgtctgtccagctttacc c.*1860
. . . . . . g.132238
cacgcatccagagagatggatataggactcaatatcctgaggaggagaactttgaatcac c.*1920
. . . . . . g.132298
caggtcaactacaggaatgtccaaaccacgaggagccacattggttgccaccaaaacttt c.*1980
. . . . . . g.132358
ataattacctctctgaagccttttagtgtaatttctctttgtgactgtgcaatgtcccca c.*2040
. . . . . . g.132418
tgtaaacacagtgcattctgttttgtgcggattcatggccatgtcagttacattcttctt c.*2100
. . . . . . g.132478
cgtctcacagaaaataatagccctcccttcagatccactgtagacttgaaggacatctca c.*2160
. . . . . . g.132538
ttttcatctgtgttttataaaggaggaaattgaggacctcacatggagggactggaattt c.*2220
. . . . . . g.132598
aaaaccaggtcttctgactttaaggcctttcttttagtgttttcccttttcttttcctta c.*2280
. . . . . . g.132658
agtcactaaaatctgtagttatataatcttacataaagcatatgcaaaatagaaaaatga c.*2340
. . . . . . g.132718
tagtcaccacatatctactaatgggattaaaatgtacaatcctaaaagcttacttgttag c.*2400
. . . . . . g.132778
cacacttgcttatctgtccattcattcattgaaccagtaagtatttattgagagttagtg c.*2460
. . . . . . g.132838
ggaatacaatgctgtgcaagacaaacaagatccctccattcataccacttaaattctagt c.*2520
. . . . . . g.132898
ggggaaaacatctgcacataacaaactaaataaaatgatcataaaataataaatgctatt c.*2580
. . . . . . g.132958
tatataaaactggctactttcattactgctcagttaaagggtcttgtagctcattttatg c.*2640
. . . . . . g.133018
acatgaaaaaaatcaaggtctaaaagctccttgagacaatttaaactctaataccaaata c.*2700
. . . . . . g.133078
tacctctataaaataccaaactgagctaaatacggtatatgtgtacttatacatatgtac c.*2760
. . . . . . g.133138
ataacctaaatatacgtgtgcacacattatctatacaaagagccatactcagtgaaagat c.*2820
. . . . . . g.133198
aaattacctcctaaactaaagtcccctctgaggtacaacagaaattaaaataattgcttc c.*2880
. . . . . . g.133258
tcttctcaactctatgtagcacgtattttccatgatgggataaatgttttcatttcaagt c.*2940
. . . g.133294
gccaatgtgtgaactgtaataaacattactgctttc c.*2976
(downstream sequence)
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