(used for variant description)
(last modified August 23, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_006258.3 in the PRKG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering PRKG1 transcript NM_006258.3.
(upstream sequence)
. . . . . g.88380
aggaagctttggcactcgggaggcagcggcgactttggggaaagttgatcggagagg c.-61
. . . . . . g.88440
ggaggaagcctcaagacgcggagcagcggcaggaaggagcccccggcagcccggaggagc c.-1
. . . . . . g.88500
ATGGGCACCTTGCGGGATTTACAGTACGCGCTCCAGGAGAAGATCGAGGAGCTGAGGCAG c.60
M G T L R D L Q Y A L Q E K I E E L R Q p.20
. . . . . . g.88560
CGGGATGCTCTCATCGACGAGCTGGAGCTGGAGTTGGATCAGAAGGACGAACTGATCCAG c.120
R D A L I D E L E L E L D Q K D E L I Q p.40
. . . . . . g.88620
AAGCTGCAGAACGAGCTGGACAAGTACCGCTCGGTGATCCGACCAGCCACCCAGCAGGCG c.180
K L Q N E L D K Y R S V I R P A T Q Q A p.60
. . . . . . g.88680
CAGAAGCAGAGCGCGAGCACCTTGCAGGGCGAGCCGCGCACCAAGCGGCAGGCGATCTCC c.240
Q K Q S A S T L Q G E P R T K R Q A I S p.80
. . . . . . g.88740
GCCGAGCCCACCGCCTTCGACATCCAGGATCTCAGCCATGTGACCCTGCCCTTCTACCCC c.300
A E P T A F D I Q D L S H V T L P F Y P p.100
. | 02 . . . . . g.167062
AAGAGCCCACA | GTCCAAGGATCTTATAAAGGAAGCTATCCTTGACAATGACTTTATGAAG c.360
K S P Q | S K D L I K E A I L D N D F M K p.120
. . . . . . g.167122
AACTTGGAGCTGTCGCAGATCCAGGAGATTGTGGATTGTATGTACCCGGTGGAGTATGGC c.420
N L E L S Q I Q E I V D C M Y P V E Y G p.140
. . . . . | 03 g.481574
AAGGACAGTTGCATCATCAAAGAAGGAGACGTGGGGTCACTGGTGTATGTCATGGAAG | AT c.480
K D S C I I K E G D V G S L V Y V M E D | p.160
. . . . . . g.481634
GGTAAGGTTGAAGTTACAAAAGAAGGTGTGAAGTTGTGTACCATGGGTCCAGGAAAAGTG c.540
G K V E V T K E G V K L C T M G P G K V p.180
. . . . . | 04 . g.818442
TTTGGGGAATTGGCTATTCTTTACAACTGTACCCGGACAGCGACCGTCAAGA | CTCTTGTA c.600
F G E L A I L Y N C T R T A T V K T | L V p.200
. . . . . . g.818502
AATGTAAAACTCTGGGCCATTGATCGACAATGTTTTCAAACAATAATGATGAGGACAGGA c.660
N V K L W A I D R Q C F Q T I M M R T G p.220
. . . | 05 . . g.921378
CTCATCAAGCATACCGAGTATATGGAATTTTTAAAAAG | CGTTCCAACATTCCAGAGCCTT c.720
L I K H T E Y M E F L K S | V P T F Q S L p.240
. . . . | 06 . . g.1068351
CCTGAAGAGATCCTCAGCAAGCTTGCTGATGTCCTTGAAGAG | ACCCACTATGAAAATGGA c.780
P E E I L S K L A D V L E E | T H Y E N G p.260
. . . . . . g.1068411
GAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACG c.840
E Y I I R Q G A R G D T F F I I S K G T p.280
| 07 . . . . . . g.1076446
| GTAAATGTCACTCGTGAAGACTCACCGAGTGAAGACCCAGTCTTTCTTAGAACTTTAGGA c.900
| V N V T R E D S P S E D P V F L R T L G p.300
. . . | 08 . . . g.1147714
AAAGGAGACTGGTTTGGAGAGAAAGCCTTGCAGGG | GGAAGATGTGAGAACAGCAAACGTA c.960
K G D W F G E K A L Q G | E D V R T A N V p.320
. . . . | 09 . . g.1175757
ATTGCTGCAGAAGCTGTAACCTGCCTTGTGATTGACAGAGA | CTCTTTTAAACATTTGATT c.1020
I A A E A V T C L V I D R D | S F K H L I p.340
. . . . . | 10 . g.1265423
GGAGGGCTGGATGATGTTTCTAATAAAGCATATGAAGATGCAGAAGCTAAAGCAAA | ATAT c.1080
G G L D D V S N K A Y E D A E A K A K | Y p.360
. . . . . . g.1265483
GAAGCTGAAGCGGCTTTCTTCGCCAACCTGAAGCTGTCTGATTTCAACATCATTGATACC c.1140
E A E A A F F A N L K L S D F N I I D T p.380
. . . | 11 . . . g.1285226
CTTGGAGTTGGAGGTTTCGGACGAGTAGAACTG | GTCCAGTTGAAAAGTGAAGAATCCAAA c.1200
L G V G G F G R V E L | V Q L K S E E S K p.400
. . . . . . g.1285286
ACGTTTGCAATGAAGATTCTCAAGAAACGTCACATTGTGGACACAAGACAGCAGGAGCAC c.1260
T F A M K I L K K R H I V D T R Q Q E H p.420
. . . . . | 12 . g.1286248
ATCCGCTCAGAGAAGCAGATCATGCAGGGGGCTCATTCCGATTTCATAGTGAG | ACTGTAC c.1320
I R S E K Q I M Q G A H S D F I V R | L Y p.440
. . . . . . g.1286308
AGAACATTTAAGGACAGCAAATATTTGTATATGTTGATGGAAGCTTGTCTAGGTGGAGAG c.1380
R T F K D S K Y L Y M L M E A C L G G E p.460
. . | 13 . . . . g.1294675
CTCTGGACCATTCTCAGGGATAG | AGGTTCGTTTGAAGATTCTACAACCAGATTTTACACA c.1440
L W T I L R D R | G S F E D S T T R F Y T p.480
. . . . . . g.1294735
GCATGTGTGGTAGAAGCTTTTGCCTATCTGCATTCCAAAGGAATCATTTACAGGGACCTC c.1500
A C V V E A F A Y L H S K G I I Y R D L p.500
. . . . | 14 . . g.1296017
AAGCCAGAAAATCTCATCCTAGATCACCGAGGTTATGCCAAACTG | GTTGATTTTGGCTTT c.1560
K P E N L I L D H R G Y A K L | V D F G F p.520
. . . . . . g.1296077
GCAAAGAAAATAGGATTTGGAAAGAAAACATGGACTTTTTGTGGGACTCCAGAGTATGTA c.1620
A K K I G F G K K T W T F C G T P E Y V p.540
. . . . . . g.1296137
GCCCCAGAGATCATCCTGAACAAAGGCCATGACATTTCAGCCGACTACTGGTCACTGGGA c.1680
A P E I I L N K G H D I S A D Y W S L G p.560
. . | 15 . . . g.1302606
ATCCTAATGTATGAACTCCTGACTGGCAG | CCCACCTTTCTCAGGCCCAGATCCTATGAAA c.1740
I L M Y E L L T G S | P P F S G P D P M K p.580
. . . . . . g.1302666
ACCTATAACATCATATTGAGGGGGATTGACATGATAGAATTTCCAAAGAAGATTGCCAAA c.1800
T Y N I I L R G I D M I E F P K K I A K p.600
. . . | 16 . . . g.1302808
AATGCTGCTAATTTAATTAAAAAACTATGCAG | GGACAATCCATCAGAAAGATTAGGGAAT c.1860
N A A N L I K K L C R | D N P S E R L G N p.620
. . . | 17 . . . g.1304098
TTGAAAAATGGAGTAAAAGACATTCAAAAGCACAA | ATGGTTTGAGGGCTTTAACTGGGAA c.1920
L K N G V K D I Q K H K | W F E G F N W E p.640
. . . . | 18 . . g.1307669
GGCTTAAGAAAAGGTACCTTGACACCTCCTATAATACCAAGT | GTTGCATCACCCACAGAC c.1980
G L R K G T L T P P I I P S | V A S P T D p.660
. . . . . . g.1307729
ACAAGTAATTTTGACAGTTTCCCTGAGGACAACGATGAACCACCACCTGATGACAACTCA c.2040
T S N F D S F P E D N D E P P P D D N S p.680
. . g.1307750
GGATGGGATATAGACTTCTAA c.2061
G W D I D F X p.686
. . . . . . g.1307810
tgtatttctcttacctgcttctgccttgctgaagacagctttttctgagacacagctgcc c.*60
. . . . . . g.1307870
agcaaacctgagggaaagagagaagattagtgctcggggtcaccatgatgcctttgatcg c.*120
. . . . . . g.1307930
atgctgctccagtaactacagtggcattaggacttaccgcttagatgacaatagtgctct c.*180
. . . . . . g.1307990
ttacatgttttctgtttgaacctaaaatagcagttgacatggtggtcctgaagcaaagcc c.*240
. . . . . . g.1308050
tttcaccagtaaaagatgttttctattgttgcaatgaccttgctttgctctgattataat c.*300
. . . . . . g.1308110
ttgaaagactgtaggaaacacttcaatgtagtataagagtctgtaccttgctggaatatt c.*360
. . . . . . g.1308170
caagaagatgaaagaataatatattgggtacaatagattactatggtacagaaactgggc c.*420
. . . . . . g.1308230
tattccctttcttcaagtgaaggctgtgggatctattactgcaggccggtgtatatacca c.*480
. . . . . . g.1308290
tacaaaagaggaccacacatctgttggtcacagagttcatgtcacaccagtgctagaagt c.*540
. . . . . . g.1308350
ttcatgattttatttcccagcagtgctgatgacaagactgaatgttaccttttctttctg c.*600
. . . . . . g.1308410
acagattttaaaaattgatatgataaaagcacaactgctatagattctgctgagacctct c.*660
. . . . . . g.1308470
catagtaggtatatatgagttttcacagaagactgaaaaataatgcatgatatttgtttg c.*720
. . . . . . g.1308530
ttttttttgataaattggcatgacagagtggggaaaaaaagcaattcacaaaaccatttc c.*780
. . . . . . g.1308590
atattttttaaaatattgtgcttaaagatggtcctggaagtaaatgactagcagccaatt c.*840
. . . . . . g.1308650
ggttttacttaacataccctcaaactgaggcttaaagtattcccttttataaaaataaat c.*900
. . . . . . g.1308710
gcttggggtagggtggagtggggagggattaaaacccatccaaaaaataaataaaaacta c.*960
. . . . . . g.1308770
tataggtgctatgtatatctttcatctgtaaatgtcagtgtctgaacagacaacacaaat c.*1020
. . . . . . g.1308830
tcaaatcattatacgtgtagccagaaactcaagcattttcactaaagttattaaaccaaa c.*1080
. . . . . . g.1308890
ctcctgtccaatttcacttatacaacatagtcagtctagagttgagagacaaaggtaatt c.*1140
. . . . . . g.1308950
ataaacctatttgaactagcttcttgtcttaggcctgaaccaaaaaacaacaaacaaaca c.*1200
. . . . . . g.1309010
aaaaacaagaatgaaaaacagaaataaaagaagtagaaaagacaaagaaagaaagcccaa c.*1260
. . . . . . g.1309070
agtcaaagttgttaatatttacaggtttaccagatctggaacattacttatttgaggtca c.*1320
. . . . . . g.1309130
gagaacaaaacaagaacctggccaggtgttgattaccttttagtgaataagctgagtcca c.*1380
. . . . . . g.1309190
tatacttgtctaactaagaaagcagtacagaggaaaacaggaacctgatttttttaaaat c.*1440
. . . . . . g.1309250
aaattttaaataaaatagaattactacaattctgcaatttcatactacctaaaaaagact c.*1500
. . . . . . g.1309310
agatttgaaaatgtcaagctgatttactttattcacatggagaaaagaatccacaaatta c.*1560
. . . . . . g.1309370
aactgagtccttcactggcatgccagttgactattattagctgtcataagtaactcagcc c.*1620
. . . . . . g.1309430
atttggaagcatttcctggacaaaattacattatacctgtgaagaaaaatatagaagctt c.*1680
. . . . . . g.1309490
tcaagctgtcattctgttttggccctgtgtgaatttggtatattaaattgacgcttgctt c.*1740
. . . . . . g.1309550
tttttttcagtagagttttctttttaatcaatcaaacgcctacatttctggaagaaaaag c.*1800
. . . . . . g.1309610
tccaattagatcattacaccttaactaagaaggcaaatcttataaattttgcttgaattg c.*1860
. . . . . . g.1309670
ttcttactcaaaactaccttagaatatggtatcttatgaaaatataatattcttaaaatt c.*1920
. . . . . . g.1309730
ttggaggataaaatgaaaagggtataaacttcaattagaactttaatcctaaaatattgt c.*1980
. . . . . . g.1309790
tattcttgtatttttggagttttccgtcccttacaatttctccaaattggtctattcccc c.*2040
. . . . . . g.1309850
aagatatccactgttttctacagattttagaatataaaattaaacatatcaacctaaaat c.*2100
. . . . . . g.1309910
ctagctatgaatgttatttcaagagttttatatttttaattggctttttaaaaatatgta c.*2160
. . . . . . g.1309970
attccaatattatagtgaatgttcagtaacttttgttgaaagataatgtggtttaggctt c.*2220
. . . . . . g.1310030
gctaaagaaaggcttgctagaatactaaatttaccttgttatttggaaagagaatctgct c.*2280
. . . . . . g.1310090
cctataacgttttaaaaatccccaaagtcccagagattagcacttgctatggattttgga c.*2340
. . . . . . g.1310150
actatggttcaagtctaagacaaccaatatgaataagttcaatggagaaggaagaagtag c.*2400
. . . . . . g.1310210
cattcagcacaagaaactgtagattgtttctcccacttgttactgcatctttgttcattt c.*2460
. . . . . . g.1310270
cacccatagcattgcatttgatgtctgaagtaattaccacaaaataaaggtaaactacat c.*2520
. . . . . . g.1310330
cttccaagatgtaccaacagaaaacattcgtctaattttgtcaacattgaatttttagga c.*2580
. . . . . . g.1310390
tttaaatcttgtcttaatgaagactctagggctaaaattcatggtcagttccataaaatg c.*2640
. . . . . . g.1310450
catctcactttatttctgaatttttcacaacccctctattttcttacattaaagaacatc c.*2700
. . . . . . g.1310510
tggataagttagaatagtgccaacttgtttgatttgttatatgattttcttgttaatgtg c.*2760
. . . . . . g.1310570
ttgagtatgggaaataagggctttctgtgtgtcttgactcacaggaaaactgaaactgcc c.*2820
. . . . . . g.1310630
aagggaagcaacattaaaacaactgggatagattgaatacatttgaaaaaataatttctg c.*2880
. . . . . . g.1310690
gaaaaacgctatacatgctttttatgtttatatcttctttcttattaagacatgaatcag c.*2940
. . . . . . g.1310750
atccatgtggcattcaaaacaaatttattttggttatattctttacaagtcataattttt c.*3000
. . . . . . g.1310810
acctaaaattgtggaatatgcatgtgaattacacatgtgtagtaataaactcaactattg c.*3060
. . . . . . g.1310870
aatttttcctgtttcatttctaaatgactgaactgatggtaaacaaatttaatgaagtca c.*3120
. . . . . . g.1310930
gctaccatgttgaaaataaggatattagaactgatttcatacaatagaggtgatctgtgc c.*3180
. . . . . . g.1310990
attatccataacaacgttttctttcactataggaccacagacaaatatttatgtaaatag c.*3240
. . . . . . g.1311050
gtatttttgtgtgatattttgtggtacatataactttttttagtgtttcacagcattatt c.*3300
. . . . . . g.1311110
atttcattttatttgtattgaataatgtttttaggtccaagtagacttgaattaatgtca c.*3360
. . . . . . g.1311170
taattgtcagtattattgaaaattatgtcaactgtactgttattcatctgtcccatagtt c.*3420
. . . . . . g.1311230
tagaacatgacctggctatctggcattgttgcaagtgccttaaattcatggcatcctatt c.*3480
. . . . . . g.1311290
aaaaaaacaaatttggtgttatgctgcatgacaaagacaaacacacctcaaaatgttgtc c.*3540
. . . . . . g.1311350
ctttcttagcttgctgcgttttacagttctttctgctaacaatttataagcctttattat c.*3600
. . . . . . g.1311410
ataatattgatgaattacagaaatgatgaagttgttctcttatttctgttaaatgtacca c.*3660
. . . . . . g.1311470
gagctgtgtatctgttaatgagatacagcgtcatttctgtgaaatgtataaatgtatgtg c.*3720
. . . . . . g.1311530
caggtcaaattaatatatgacattctatcagtctgtatacaggtattcctgttttgctaa c.*3780
. . . . . . g.1311590
gctgtgcagattctgtaaaaataaattagtgcagtcaagttctaacatatctcattttat c.*3840
. . . . . . g.1311650
agactccattgacaatggtccaaccgaaaagaaaaattggaaatgactgctaaccagacc c.*3900
. . . . . . g.1311710
tcgttatgaaaccaatgatgaaaaagtcacttggtgcacctctcaacaaaacaggatgct c.*3960
. . . . . . g.1311770
ttttccgagttcttgtatatgcaaatcatttacgaggcaagttttcaacagacctagaaa c.*4020
. . . . . . g.1311830
gcaaaacattgaaagtgtgttgttagccctcctctctgcccctgaatcaacagacagagc c.*4080
. . . . . . g.1311890
tctgggaccttggcaatgactcagaggttggggctttctgagtaaagggacatttcttta c.*4140
. . . . . . g.1311950
agcatcatctatcaaatttatttcaatgtatgatgtttttacaactggtcagttcttttg c.*4200
. . . . . . g.1312010
tattcttacagctatggttatttgattgtcctcttacaatttgttctacatgaaagagtt c.*4260
. . . . . . g.1312070
ctttgttagtcagaatgcaacaaactgtcatcaaatggtcattgaccacttgcactcttt c.*4320
. . . . . . g.1312130
tgatgtagattaaaaactttttcataaatttacctgctttgatttgctctgtatttttcc c.*4380
. . . . . . g.1312190
tgcagctgtaattgctgagtgcctgttgtatactttatagagttgaaataaaaaaataat c.*4440
. g.1312200
tacttttgaa c.*4450
(downstream sequence)
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