(used for variant description)
(last modified October 19, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000706.4 in the AVPR1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering AVPR1A transcript NM_000706.4.
(upstream sequence)
. . . . . g.5054
taattgcttgaaggattttttccagacaggtggtctggaaaccttttacctatt c.-1921
. . . . . . g.5114
accttccatccctgaaccatttcaatcttctgcctcctggatatcttggagaaaatgaac c.-1861
. . . . . . g.5174
caacacaacacagctttcagtttttagagcatttcccccatacagaacattgtcttactt c.-1801
. . . . . . g.5234
gatcttcccgatgacctcaacaacaggaaaggcaggtcctttcatttccatttataagac c.-1741
. . . . . . g.5294
gcacagacccaggattatctagccacaggaagcaggactccagatttcaagtccagcatc c.-1681
. . . . . . g.5354
tcaacgtgacaaccttggtaactctgcatgaacggactggatagtaaagtggaattatta c.-1621
. . . . . . g.5414
ctgagaactgcaatgaataaaatcttttgcattttttgcctacgtttcacagagggtgat c.-1561
. . . . . . g.5474
atttttctgaggcaattaaatttataccacggccacaatactgaaacgttctgaccaaca c.-1501
. . . . . . g.5534
aagtcatgctcctgcatctacacagcagataactgcagaaacggcttcctttcttccttg c.-1441
. . . . . . g.5594
taaaattgcctgaaaacagctcccccttgctgtccgtcgaggcatatcttcaccaacgtt c.-1381
. . . . . . g.5654
aaaacagagctgagggagatcgcatttctgcctccctcccgccctgcagaggggctccag c.-1321
. . . . . . g.5714
ctgttcagagtaacggattactaggtaggtggttgtttcccctccttcccagggcctctt c.-1261
. . . . . . g.5774
tcctctctttgagattgcctctttcttactcctgagcacaggagccgggcgggttttctg c.-1201
. . . . . . g.5834
tcccttgccctggacagcactgcctggatggccgctgtccggcagctgctctttgtccac c.-1141
. . . . . . g.5894
ccaaaaagatgtccccacgactcagtagtaaccagacggtccccacggaccactgcggcc c.-1081
. . . . . . g.5954
aaatttccgccatccccgctgtgggaatcaggcttttcccgcagaaaaccccaggaatct c.-1021
. . . . . . g.6014
agagaaaactccttaagtccctagtctccatagagaaaaccaggagacactccccccaaa c.-961
. . . . . . g.6074
ccccgctgtgaatacaggcacagcagccactggggctgcaaagtgatgagtgcgttcttc c.-901
. . . . . . g.6134
ccgtcgcaaacatagggtaataaatagcatgcatcaaagacgttactaggaagagatagc c.-841
. . . . . . g.6194
tctttaagtcacgagcggggagaaatgtttgccccgggaaaatttgcctggggaataaaa c.-781
. . . . . . g.6254
tttgccagactgctgcacgggtgagctcggtgagaaggaagaaacccggactggaggagg c.-721
. . . . . . g.6314
tgaggtcgagagccaggttcaggtgcaggagctagatgcgtggacgccggtgcgtggact c.-661
. . . . . . g.6374
ggaggtttccaggtaccgcgcttagcgtgcctgttgaagtcaaatgcatggttaaggagg c.-601
. . . . . . g.6434
ctagcgaggaaggctagtgagggaagcttgtggaaacggctacgagcccagaaaaggcat c.-541
. . . . . . g.6494
gactcgtccagttgtccaagtttttggaagggaaaagcgggaaagcgccacgatcccacc c.-481
. . . . . . g.6554
tactgtgaggaggaatctgcgagtctcccagctccaccccctccacagtgatgcagagga c.-421
. . . . . . g.6614
caaacaccgacgtagggagaggaaaaaataaaactccagggagcggggagtaggcaacca c.-361
. . . . . . g.6674
gcagtcttccggcaatagggcgggagggagcgcgtcccaaggaaacaagcaccgcataaa c.-301
. . . . . . g.6734
tacttgagttgggaacccagtgcttccggaagctcggagctcaccttcccgacctcgccg c.-241
. . . . . . g.6794
aagttgaaaaaaggcagagcagggagaggggccagctcaccctgctgagagctgctcagt c.-181
. . . . . . g.6854
gggcaggcgggacgctgctccgggagacgcccactggagggatcgcagagcccggcaagc c.-121
. . . . . . g.6914
tgcgagcgcgccaaagaccctgcgcttcggacgaggagcccaagtcctccgagacgggga c.-61
. . . . . . g.6974
gggagcggcccgcgagggctggagctccgaagagggccgagtaggagctgcatggacagc c.-1
. . . . . . g.7034
ATGCGTCTCTCCGCCGGTCCCGACGCGGGGCCCTCGGGCAACTCCAGCCCATGGTGGCCT c.60
M R L S A G P D A G P S G N S S P W W P p.20
. . . . . . g.7094
CTGGCCACCGGCGCTGGCAACACAAGCCGGGAGGCCGAAGCCCTCGGGGAGGGCAACGGC c.120
L A T G A G N T S R E A E A L G E G N G p.40
. . . . . . g.7154
CCACCGAGGGACGTGCGCAACGAGGAGCTGGCCAAACTGGAGATCGCCGTGCTGGCGGTG c.180
P P R D V R N E E L A K L E I A V L A V p.60
. . . . . . g.7214
ACTTTCGCGGTGGCCGTGCTGGGCAACAGCAGCGTACTGCTGGCTCTGCACCGGACGCCG c.240
T F A V A V L G N S S V L L A L H R T P p.80
. . . . . . g.7274
CGCAAGACGTCCCGCATGCACCTCTTCATCCGACACCTCAGCCTGGCCGACCTGGCCGTG c.300
R K T S R M H L F I R H L S L A D L A V p.100
. . . . . . g.7334
GCATTCTTCCAGGTGCTGCCGCAAATGTGCTGGGACATCACCTACCGCTTCCGCGGCCCC c.360
A F F Q V L P Q M C W D I T Y R F R G P p.120
. . . . . . g.7394
GACTGGCTGTGCCGCGTGGTGAAGCACCTGCAGGTGTTCGGCATGTTTGCGTCGGCCTAC c.420
D W L C R V V K H L Q V F G M F A S A Y p.140
. . . . . . g.7454
ATGCTGGTAGTCATGACAGCCGACCGCTACATCGCGGTGTGCCACCCGCTCAAGACTCTG c.480
M L V V M T A D R Y I A V C H P L K T L p.160
. . . . . . g.7514
CAACAGCCCGCGCGCCGCTCGCGCCTCATGATCGCGGCCGCCTGGGTGCTGAGCTTCGTG c.540
Q Q P A R R S R L M I A A A W V L S F V p.180
. . . . . . g.7574
CTGAGCACGCCGCAGTACTTCGTCTTCTCCATGATCGAGGTGAACAATGTCACCAAGGCC c.600
L S T P Q Y F V F S M I E V N N V T K A p.200
. . . . . . g.7634
CGCGACTGCTGGGCCACCTTCATCCAGCCCTGGGGTTCTCGTGCCTACGTGACCTGGATG c.660
R D C W A T F I Q P W G S R A Y V T W M p.220
. . . . . . g.7694
ACGGGCGGCATCTTTGTGGCGCCCGTGGTCATCTTGGGTACCTGCTACGGCTTCATCTGC c.720
T G G I F V A P V V I L G T C Y G F I C p.240
. . . . . . g.7754
TACAACATCTGGTGCAACGTCCGCGGGAAGACGGCGTCGCGCCAGAGCAAGGGTGCAGAG c.780
Y N I W C N V R G K T A S R Q S K G A E p.260
. . . . . . g.7814
CAAGCGGGTGTGGCCTTCCAAAAGGGGTTCCTGCTCGCACCCTGTGTCAGCAGCGTGAAG c.840
Q A G V A F Q K G F L L A P C V S S V K p.280
. . . . . . g.7874
TCCATTTCCCGGGCCAAGATCCGCACGGTGAAGATGACTTTTGTGATCGTGACGGCTTAC c.900
S I S R A K I R T V K M T F V I V T A Y p.300
. . . . . . g.7934
ATCGTCTGCTGGGCGCCTTTCTTCATCATCCAGATGTGGTCTGTCTGGGATCCCATGTCC c.960
I V C W A P F F I I Q M W S V W D P M S p.320
. | 02 . . . . . g.10215
GTCTGGACCG | AATCGGAAAACCCTACCATCACCATCACTGCATTACTGGGTTCCTTGAAT c.1020
V W T E | S E N P T I T I T A L L G S L N p.340
. . . . . . g.10275
AGCTGCTGTAATCCCTGGATATACATGTTTTTTAGTGGCCATCTCCTTCAAGACTGTGTT c.1080
S C C N P W I Y M F F S G H L L Q D C V p.360
. . . . . . g.10335
CAAAGCTTCCCATGCTGCCAAAACATGAAGGAAAAATTCAACAAAGAAGATACTGACAGT c.1140
Q S F P C C Q N M K E K F N K E D T D S p.380
. . . . . . g.10395
ATGAGCAGAAGACAGACTTTTTATTCTAACAATCGAAGCCCAACAAACAGTACGGGTATG c.1200
M S R R Q T F Y S N N R S P T N S T G M p.400
. . . . . g.10452
TGGAAGGACTCGCCTAAATCTTCCAAGTCCATCAAATTCATTCCTGTTTCAACTTGA c.1257
W K D S P K S S K S I K F I P V S T X p.418
. . . . . . g.10512
gccttgcattcatgcaacttgattcttgtgattgactttttggctcattagctgaattga c.*60
. . . . . . g.10572
gctagaaatcacaagaacaaatacactttattaatataaccataaatcaattcattgtgt c.*120
. . . . . . g.10632
atgagactgtgtttctagttgcattttcatattgctaccaaaaactagacattattttgt c.*180
. . . . . . g.10692
atggaatattaatggaaacatgctgtactaaaatatgcaggtctgattcccagaaataca c.*240
. . . . . . g.10752
acagaagttatatttttaaaggaaaaatcataaccaccctagctttatattttgttgtta c.*300
. . . . . . g.10812
gtttcttttattttcatttctaacataagtaagacttgattggtttaaaagtcacataaa c.*360
. . . . . . g.10872
atgcggcactatttctgaacaaagagagctcatcatcagtcttaatattcagagaaaact c.*420
. . . . . . g.10932
tcagagaaattatgttttcatccattaaaattaatttgtgcatcagaaaatgcagcctta c.*480
. . . . . . g.10992
aacagtgtccaggagatgggatggtacctcctaggagtacaagtgcctggggtgtaatga c.*540
. . . . . . g.11052
gctcctgctcattgtggccagtttagagttctattagaagctatcaatcaccttgcattt c.*600
. . . . . . g.11112
caaaatggtaactttacaactggcagtggcctccttttggttcctcacatattattggtc c.*660
. . . . . . g.11172
aagaaaagcatgaaaactgagatgctgaaggtgagaggaaatgttgactggccaaaaata c.*720
. . . . . . g.11232
tcttttttcccccactgcgaggttgttttaaagtcagatttgtataaggaaagccaaatt c.*780
. . . . . . g.11292
ttattaaaagagtagaaaaggattgcttaaggtactctggactttctcttggacattgta c.*840
. . . . . . g.11352
aacgtattttgatcagtgttacaagggtatcctgtgctatgctggacattaacaagatca c.*900
. . . . . . g.11412
ttatcttcatgtttggggaattcagattcataatatgagtatcctaaagagtgactcagg c.*960
. . . . . . g.11472
atataaagtgtcccaacatgtttaattaaaaatagctttgtctttccaatctctcactca c.*1020
. . . . . . g.11532
tctaacaattgcaaagcagagatgagacagggttgggacatgggtgacagatggaaagag c.*1080
. . . . . . g.11592
aactgctctgtgcccagactggcttccttcattattaaatccacaactttaggcaagttt c.*1140
. . . . . . g.11652
cttaaacacatataaagcctctgtttccttgacttaccgtggggttgataacacttacct c.*1200
. . . . . . g.11712
cacagggttgttgtaaggactaaatgaaatcaaatatgttaaaagagcttcagaaatagt c.*1260
. . . . . . g.11772
aaagtactatacacatgctagcagttgcttttattatagccttgggatctccaaaattgc c.*1320
. . . . . . g.11832
acagatgttttccagtttatttttcattaactagaattggttcatttcatggctgggata c.*1380
. . . . . . g.11892
taaaatcctaaaatttaaatatagatcgctgattcattggacaacatttccagtgactgc c.*1440
. . . . . . g.11952
tcagcttgacttctcctgcctgactaaagttttccaatttaaagacagaacttgcttttc c.*1500
. . . . . . g.12012
tttgaatgcaggtagatcaaagccacccacaagcatcaattttttccatttttaaacgga c.*1560
. . . . . . g.12072
gaccaattacactactttgctgttattacatttttcattaatggaactcagtgatttttt c.*1620
. . . . . . g.12132
tcctagctattttgtctggctgcttcttcttcttagagatcatgcaatgatttgaggata c.*1680
. . . . . . g.12192
catcataaatattttgcatccttaagaggaagtaatagttgctttttttttttttgaaac c.*1740
. . . . . . g.12252
agagtcttgctcttttgccaggctggagtgcagtggcgtgatctcggctcactgcaacct c.*1800
. . . . . . g.12312
ccgcttcctgggttcaagcgattctcctgcctcagcctcccgagtagctgggactatatg c.*1860
. . . . . . g.12372
catgtgccaccacacccagctaatttttatatttttagtagagatggggtttcaccatgt c.*1920
. . . . . . g.12432
tggccagcatggttttaatagtattattgagtttctttttttacctttgtagataagaaa c.*1980
. . . . . . g.12492
atgagaactggatagcactgtgagaacccggaagcgataacttcactcctcttcattctt c.*2040
. . . . . . g.12552
ctgccttttgaaattctcagcccttaggctccttgtattgataggcctaaaaacatgttt c.*2100
. . . . . . g.12612
ccaaatgctttatagagattataaacctagggactccctaggttttcaaattcttctttc c.*2160
. . . . . . g.12672
taaaaataacaaatatgtctcttaaagggtactgtccaatataagccataactaaattaa c.*2220
. . . . . . g.12732
ttaattcattatttgagttagagtagcatctcagtaacccagcactcgaagactgtcagt c.*2280
. . . . . . g.12792
ccttttaacaactctttgatagttcaaaaactaaagctttttggtttggaactaagatga c.*2340
. . . . . . g.12852
acccatttttttctaaatccatttccaaagtaagaacctcagaacctatagatcttgctt c.*2400
. . . . . . g.12912
caaaatgttgatatgtacccccaagcaaaacaattcaatttgaatgttatttctgagaac c.*2460
. . . . . . g.12972
agctcacaaaaaaaagtgcatatcaccctacccagttgtattttctccttttaaatgtat c.*2520
. . . . . . g.13032
tgggagatgagacagtagaaaatgggctggggaaacatgagatctgggtgctagttctgc c.*2580
. . . . . . g.13092
actaggcaaatacatggtcttattctctgcggtttaggctgagaagtttcatctgtctgg c.*2640
. . . . . . g.13152
ttgctaaattttctcaatgttatgtacccagaaatggacgccacatatctcaaaacaata c.*2700
. . . . . . g.13212
tttcagattggaaggaatctacctgcctgtctgtttcagaagaagagaaactgaaaaagt c.*2760
. . . . . . g.13272
attccgggaagggaagttttccttttcttgactaaagagaagacctgagatattatgcca c.*2820
. . . . . . g.13332
aataacagcttacagtcaagaaaaaaatgtgttgcagcaccttattttatttttcacagt c.*2880
. . . . . . g.13392
taacagtgggaagatcctgcaagtacacaattttaatgcctctatatgggtattaggaat c.*2940
. . . . . . g.13452
gtgatatataaaaaatgtccagtagggagaaactaatcagttgggcatttgatgaatatt c.*3000
. . . . . . g.13512
aactgatgatggtaaataaacaatttagagtgcattattaagtgcttaatgggttaattt c.*3060
. . . . . . g.13572
tggagcatgtattctaaagtgtaaaactacttggcttttattttgaaatttcatttggaa c.*3120
. . . . . . g.13632
cacaattgtgaaggaaatcagtgaaattcttgggttaattatatacttgttttacatata c.*3180
. . . . . . g.13692
gaatttctatcatcatcaaacaagtcttatgccatgatttcgggaagggtatggttttag c.*3240
. . . . . . g.13752
agaaaaaaatactaagcagtcttaatgatacacaggaccctgccaagcttattacagttt c.*3300
. . . . . . g.13812
ctagaatggacaactactaatgattaagaaacaactttcatctgttattacacaagaaac c.*3360
. . . . . . g.13872
ccgattaggttaaagtttgatgttttcagactctaaagcctatgtttttgtaacttaatt c.*3420
. . . . . . g.13932
ggactttcagagtgttaaattatggcttcagagtttggctctacctaaaatttagttaga c.*3480
. . . . . . g.13992
tgccaaccagggagaaattaaacctaatccttcaccccaaatatcagaggttagacaaac c.*3540
. . . . . . g.14052
ccatgttaattggagccttatggttattcatattggaggcaatagctttatttagaggaa c.*3600
. . . . . . g.14112
gcccaggacagggccgtctgggatgctagttctggaaatgcagaagcagccactgtatcc c.*3660
. . . . . . g.14172
ctgcccaccccctccatccagcccttttggtactactcagtattgttgacaacatttgga c.*3720
. . . . . . g.14232
atcataagtaacataggacagtaagtattagagaatgattctccgttagaattggacctc c.*3780
. . . . . . g.14292
agccgatttgagccaaaatttaggaactattcagaagacagtttctttcttttgagtgct c.*3840
. . . . . . g.14352
taagacagtgtaaatggttcgaatcacacacattttaagattccattgtatacataagca c.*3900
. . . . . . g.14412
ttttaagaatattgttttaacataattattaggcatactaagttatcatgaatgaaaatg c.*3960
. . . . . . g.14472
tacatgtgacctgtagtatgttatatattattatggctaaatgttaaatgccattttttt c.*4020
. . . . . . g.14532
gctttttagttttatgtatttttgtatgtatatacccacatttttacattgatttatgtt c.*4080
. . . . . . g.14592
ctaaataataattaaaacaaagtattataaaatgaatgaaatatttttgtgttccatggt c.*4140
. . . . . . g.14652
caaattattaataaattcaggaaagaaaatctgatgataaatctgatataaataccagaa c.*4200
. . . . . . g.14712
taattattattaatataaaataatattttcacatatgaaggtatgtcttcatactacagg c.*4260
. . . . . . g.14772
atttctgacttgaatatattctataatgctttaattcattaccataacaaatgtactaag c.*4320
. . . . . . g.14832
aattaatgttgcatctttagtattccattttttggaactgtttttcaaatgttctatatc c.*4380
. . . . . . g.14892
ctctagcttattatgctatctaaaataatttcagtgtgttttttcctggggcaactgaat c.*4440
. . . . . . g.14952
gattcttgttttgaatgagtgataaaatgttttgtgatagtatctaatatttggtccttt c.*4500
. . . . . . g.15012
acagaaaaaatggcttgtggtactatattgaaaaaactattgtatttcctcaattttact c.*4560
. . . . g.15052
gtgtgttgtcttgtttctataaacaaaaataagttttgga c.*4600
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 08
©2004-2013 Leiden University Medical Center