(used for variant description)
(last modified March 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001018077.1 in the NR3C1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009062.1, covering NR3C1 transcript NM_001018077.1.
(upstream sequence)
. . . g.5034
aggttatgtaagggtttgctttcaccccattcaa c.-961
. . . . . . g.5094
aaggtacctcttcctcttctcttgctccctctcgccctcattcttgtgcctatgcagaca c.-901
. . . . . . g.5154
tttgagtagaggcgaatcactttcacttctgctggggaaattgcaacacgcttctttaaa c.-841
. . . . . . g.5214
tggcagagagaaggagaaaacttagatcttctgataccaaatcactggaccttagaaggt c.-781
. . . . . . g.5274
cagaaatctttcaagccctgcaggaccgtaaaatgcgcatgtgtccaacggaagcactgg c.-721
. . . . . . g.5334
ggcatgagtggggaaggaatagaaacagaaagagggtaagagaagaaaaaagggaaagtg c.-661
. . . . . . g.5394
gtgaaggcagggaggaaaattgcttagtgtgaatatgcacgcattcatttagttttcaaa c.-601
. . . . . . g.5454
tccttgttgagcatgataaaattcccagcatcagacctcacatgttggtttccattagga c.-541
. . . . . . g.5514
tctgcctgggggaatatctgctgaatcagtggctctgagctgaactaggaaattcaccat c.-481
. . . . . . g.5574
aattaggagagtcactgtatttctctccaaaaaaaaaaaagttatacccgagagacagga c.-421
. . . . . . g.5634
tcttctgatctgaaattttcttcacttctgaaattctctggtttgtgctcatcgttggta c.-361
. . . . . . g.5694
gctatttgttcatcaagagttgtgtagctggcttcttctgaaaaaaggaatctgcgtcat c.-301
. . . . . . g.5754
atctaagtcagatttcattctggtgctctcagagcagttagcccaggaaaggggccagct c.-241
. . . . . . g.5814
tctgtgacgactgctgcagaggcaggtgcagtttgtgtgccacagatattaactttgata c.-181
. . . . . . g.5874
agcacttaatgagtgccttctctgtgcgagaatggggaggaacaaaatgcagctcctacc c.-121
. . . . . . g.5934
ctcctcgggctttagttgtaccttaataacaggaattttcatctgcctggctcctttcct c.-61
. . . . . | 02 . g.39673
caaagaacaaagaagactttgcttcattaaagtgtctgagaaggaag | ttgatattcactg c.-1
. . . . . . g.39733
ATGGACTCCAAAGAATCATTAACTCCTGGTAGAGAAGAAAACCCCAGCAGTGTGCTTGCT c.60
M D S K E S L T P G R E E N P S S V L A p.20
. . . . . . g.39793
CAGGAGAGGGGAGATGTGATGGACTTCTATAAAACCCTAAGAGGAGGAGCTACTGTGAAG c.120
Q E R G D V M D F Y K T L R G G A T V K p.40
. . . . . . g.39853
GTTTCTGCGTCTTCACCCTCACTGGCTGTCGCTTCTCAATCAGACTCCAAGCAGCGAAGA c.180
V S A S S P S L A V A S Q S D S K Q R R p.60
. . . . . . g.39913
CTTTTGGTTGATTTTCCAAAAGGCTCAGTAAGCAATGCGCAGCAGCCAGATCTGTCCAAA c.240
L L V D F P K G S V S N A Q Q P D L S K p.80
. . . . . . g.39973
GCAGTTTCACTCTCAATGGGACTGTATATGGGAGAGACAGAAACAAAAGTGATGGGAAAT c.300
A V S L S M G L Y M G E T E T K V M G N p.100
. . . . . . g.40033
GACCTGGGATTCCCACAGCAGGGCCAAATCAGCCTTTCCTCGGGGGAAACAGACTTAAAG c.360
D L G F P Q Q G Q I S L S S G E T D L K p.120
. . . . . . g.40093
CTTTTGGAAGAAAGCATTGCAAACCTCAATAGGTCGACCAGTGTTCCAGAGAACCCCAAG c.420
L L E E S I A N L N R S T S V P E N P K p.140
. . . . . . g.40153
AGTTCAGCATCCACTGCTGTGTCTGCTGCCCCCACAGAGAAGGAGTTTCCAAAAACTCAC c.480
S S A S T A V S A A P T E K E F P K T H p.160
. . . . . . g.40213
TCTGATGTATCTTCAGAACAGCAACATTTGAAGGGCCAGACTGGCACCAACGGTGGCAAT c.540
S D V S S E Q Q H L K G Q T G T N G G N p.180
. . . . . . g.40273
GTGAAATTGTATACCACAGACCAAAGCACCTTTGACATTTTGCAGGATTTGGAGTTTTCT c.600
V K L Y T T D Q S T F D I L Q D L E F S p.200
. . . . . . g.40333
TCTGGGTCCCCAGGTAAAGAGACGAATGAGAGTCCTTGGAGATCAGACCTGTTGATAGAT c.660
S G S P G K E T N E S P W R S D L L I D p.220
. . . . . . g.40393
GAAAACTGTTTGCTTTCTCCTCTGGCGGGAGAAGACGATTCATTCCTTTTGGAAGGAAAC c.720
E N C L L S P L A G E D D S F L L E G N p.240
. . . . . . g.40453
TCGAATGAGGACTGCAAGCCTCTCATTTTACCGGACACTAAACCCAAAATTAAGGATAAT c.780
S N E D C K P L I L P D T K P K I K D N p.260
. . . . . . g.40513
GGAGATCTGGTTTTGTCAAGCCCCAGTAATGTAACACTGCCCCAAGTGAAAACAGAAAAA c.840
G D L V L S S P S N V T L P Q V K T E K p.280
. . . . . . g.40573
GAAGATTTCATCGAACTCTGCACCCCTGGGGTAATTAAGCAAGAGAAACTGGGCACAGTT c.900
E D F I E L C T P G V I K Q E K L G T V p.300
. . . . . . g.40633
TACTGTCAGGCAAGCTTTCCTGGAGCAAATATAATTGGTAATAAAATGTCTGCCATTTCT c.960
Y C Q A S F P G A N I I G N K M S A I S p.320
. . . . . . g.40693
GTTCATGGTGTGAGTACCTCTGGAGGACAGATGTACCACTATGACATGAATACAGCATCC c.1020
V H G V S T S G G Q M Y H Y D M N T A S p.340
. . . . . . g.40753
CTTTCTCAACAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGT c.1080
L S Q Q Q D Q K P I F N V I P P I P V G p.360
. . . . . . g.40813
TCCGAAAATTGGAATAGGTGCCAAGGATCTGGAGATGACAACTTGACTTCTCTGGGGACT c.1140
S E N W N R C Q G S G D D N L T S L G T p.380
. . . . | 03 . . g.126360
CTGAACTTCCCTGGTCGAACAGTTTTTTCTAATGGCTATTCAAG | CCCCAGCATGAGACCA c.1200
L N F P G R T V F S N G Y S S | P S M R P p.400
. . . . . . g.126420
GATGTAAGCTCTCCTCCATCCAGCTCCTCAACAGCAACAACAGGACCACCTCCCAAACTC c.1260
D V S S P P S S S S T A T T G P P P K L p.420
. . . . . . g.126480
TGCCTGGTGTGCTCTGATGAAGCTTCAGGATGTCATTATGGAGTCTTAACTTGTGGAAGC c.1320
C L V C S D E A S G C H Y G V L T C G S p.440
. . . | 04 . . . g.130328
TGTAAAGTTTTCTTCAAAAGAGCAGTGGAAG | GACAGCACAATTACCTATGTGCTGGAAGG c.1380
C K V F F K R A V E G | Q H N Y L C A G R p.460
. . . . . . g.130388
AATGATTGCATCATCGATAAAATTCGAAGAAAAAACTGCCCAGCATGCCGCTATCGAAAA c.1440
N D C I I D K I R R K N C P A C R Y R K p.480
. . | 05 . . . g.139781
TGTCTTCAGGCTGGAATGAACCTGGAAG | CTCGAAAAACAAAGAAAAAAATAAAAGGAATT c.1500
C L Q A G M N L E A | R K T K K K I K G I p.500
. . . . . . g.139841
CAGCAGGCCACTACAGGAGTCTCACAAGAAACCTCTGAAAATCCTGGTAACAAAACAATA c.1560
Q Q A T T G V S Q E T S E N P G N K T I p.520
. . . . . . g.139901
GTTCCTGCAACGTTACCACAACTCACCCCTACCCTGGTGTCACTGTTGGAGGTTATTGAA c.1620
V P A T L P Q L T P T L V S L L E V I E p.540
. . . . . . g.139961
CCTGAAGTGTTATATGCAGGATATGATAGCTCTGTTCCAGACTCAACTTGGAGGATCATG c.1680
P E V L Y A G Y D S S V P D S T W R I M p.560
. . . . . . g.140021
ACTACGCTCAACATGTTAGGAGGGCGGCAAGTGATTGCAGCAGTGAAATGGGCAAAGGCA c.1740
T T L N M L G G R Q V I A A V K W A K A p.580
| 06. . . . . . g.141753
ATACCAG | GTTTCAGGAACTTACACCTGGATGACCAAATGACCCTACTGCAGTACTCCTGG c.1800
I P G | F R N L H L D D Q M T L L Q Y S W p.600
. . . . . . g.141813
ATGTTTCTTATGGCATTTGCTCTGGGGTGGAGATCATATAGACAATCAAGTGCAAACCTG c.1860
M F L M A F A L G W R S Y R Q S S A N L p.620
. . . | 07 . . . g.144950
CTGTGTTTTGCTCCTGATCTGATTATTAATGA | GCAGAGAATGACTCTACCCTGCATGTAC c.1920
L C F A P D L I I N E | Q R M T L P C M Y p.640
. . . . . . g.145010
GACCAATGTAAACACATGCTGTATGTTTCCTCTGAGTTACACAGGCTTCAGGTATCTTAT c.1980
D Q C K H M L Y V S S E L H R L Q V S Y p.660
. . . . | 08 . . g.157804
GAAGAGTATCTCTGTATGAAAACCTTACTGCTTCTCTCTTCAG | TTCCTAAGGACGGTCTG c.2040
E E Y L C M K T L L L L S S V | P K D G L p.680
. . . . . . g.157864
AAGAGCCAAGAGCTATTTGATGAAATTAGAATGACCTACATCAAAGAGCTAGGAAAAGCC c.2100
K S Q E L F D E I R M T Y I K E L G K A p.700
. . . . . . g.157924
ATTGTCAAGAGGGAAGGAAACTCCAGCCAGAACTGGCAGCGGTTTTATCAACTGACAAAA c.2160
I V K R E G N S S Q N W Q R F Y Q L T K p.720
. . | 09 . . . . g.158510
CTCTTGGATTCTATGCATGAA | GTGGTTGAAAATCTCCTTAACTATTGCTTCCAAACATTT c.2220
L L D S M H E | V V E N L L N Y C F Q T F p.740
. . . . . . g.158570
TTGGATAAGACCATGAGTATTGAATTCCCCGAGATGTTAGCTGAAATCATCACCAATCAG c.2280
L D K T M S I E F P E M L A E I I T N Q p.760
. . . . . g.158624
ATACCAAAATATTCAAATGGAAATATCAAAAAACTTCTGTTTCATCAAAAGTGA c.2334
I P K Y S N G N I K K L L F H Q K X p.777
. . . . . . g.158684
ctgccttaataagaatggttgccttaaagaaagtcgaattaatagcttttattgtataaa c.*60
. . . . . . g.158744
ctatcagtttgtcctgtagaggttttgttgttttattttttattgttttcatctgttgtt c.*120
. . . . . . g.158804
ttgttttaaatacgcactacatgtggtttatagagggccaagacttggcaacagaagcag c.*180
. . . . . . g.158864
ttgagtcgtcatcacttttcagtgatgggagagtagatggtgaaatttattagttaatat c.*240
. . . . . . g.158924
atcccagaaattagaaaccttaatatgtggacgtaatctccacagtcaaagaaggatggc c.*300
. . . . . . g.158984
acctaaaccaccagtgcccaaagtctgtgtgatgaactttctcttcatactttttttcac c.*360
. . . . . . g.159044
agttggctggatgaaattttctagactttctgttggtgtatcccccccctgtatagttag c.*420
. . . . . . g.159104
gatagcatttttgatttatgcatggaaacctgaaaaaaagtttacaagtgtatatcagaa c.*480
. . . . . . g.159164
aagggaagttgtgccttttatagctattactgtctggttttaacaatttcctttatattt c.*540
. . . . . . g.159224
agtgaactacgcttgctcattttttcttacataattttttattcaagttattgtacagct c.*600
. . . . . . g.159284
gtttaagatgggcagctagttcgtagctttcccaaataaactctaaacattaatcaatca c.*660
. . . . . . g.159344
tctgtgtgaaaatgggttggtgcttctaacctgatggcacttagctatcagaagaccaca c.*720
. . . . . . g.159404
aaaattgactcaaatctccagtattcttgtcaaaaaaaaaaaaaaaaaagctcatatttt c.*780
. . . . . . g.159464
gtatatatctgcttcagtggagaattatataggttgtgcaaattaacagtcctaactggt c.*840
. . . . . . g.159524
atagagcacctagtccagtgacctgctgggtaaactgtggatgatggttgcaaaagacta c.*900
. . . . . . g.159584
atttaaaaaataactaccaagaggccctgtctgtacctaacgccctatttttgcaatggc c.*960
. . . . . . g.159644
tatatggcaagaaagctggtaaactatttgtctttcaggaccttttgaagtagtttgtat c.*1020
. . . . . . g.159704
aacttcttaaaagttgtgattccagataaccagctgtaacacagctgagagacttttaat c.*1080
. . . . . . g.159764
cagacaaagtaattcctctcactaaactttacccaaaaactaaatctctaatatggcaaa c.*1140
. . . . . . g.159824
aatggctagacacccattttcacattcccatctgtcaccaattggttaatctttcctgat c.*1200
. . . . . . g.159884
ggtacaggaaagctcagctactgatttttgtgatttagaactgtatgtcagacatccatg c.*1260
. . . . . . g.159944
tttgtaaaactacacatccctaatgtgtgccatagagtttaacacaagtcctgtgaattt c.*1320
. . . . . . g.160004
cttcactgttgaaaattattttaaacaaaatagaagctgtagtagccctttctgtgtgca c.*1380
. . . . . . g.160064
ccttaccaactttctgtaaactcaaaacttaacatatttactaagccacaagaaatttga c.*1440
. . . . . . g.160124
tttctattcaaggtggccaaattatttgtgtaatagaaaactgaaaatctaatattaaaa c.*1500
. . . . . . g.160184
atatggaacttctaatatatttttatatttagttatagtttcagatatatatcatattgg c.*1560
. . . . . . g.160244
tattcactaatctgggaagggaagggctactgcagctttacatgcaatttattaaaatga c.*1620
. . . . . . g.160304
ttgtaaaatagcttgtatagtgtaaaataagaatgatttttagatgagattgttttatca c.*1680
. . . . . . g.160364
tgacatgttatatattttttgtaggggtcaaagaaatgctgatggataacctatatgatt c.*1740
. . . . . . g.160424
tatagtttgtacatgcattcatacaggcagcgatggtctcagaaaccaaacagtttgctc c.*1800
. . . . . . g.160484
taggggaagagggagatggagactggtcctgtgtgcagtgaaggttgctgaggctctgac c.*1860
. . . . . . g.160544
ccagtgagattacagaggaagttatcctctgcctcccattctgaccacccttctcattcc c.*1920
. . . . . . g.160604
aacagtgagtctgtcagcgcaggtttagtttactcaatctccccttgcactaaagtatgt c.*1980
. . . . . . g.160664
aaagtatgtaaacaggagacaggaaggtggtgcttacatccttaaaggcaccatctaata c.*2040
. . . . . . g.160724
gcgggttactttcacatacagccctcccccagcagttgaatgacaacagaagcttcagaa c.*2100
. . . . . . g.160784
gtttggcaatagtttgcatagaggtaccagcaatatgtaaatagtgcagaatctcatagg c.*2160
. . . . . . g.160844
ttgccaataatacactaattcctttctatcctacaacaagagtttatttccaaataaaat c.*2220
. . . . . . g.160904
gaggacatgtttttgttttctttgaatgctttttgaatgttatttgttattttcagtatt c.*2280
. . . . . . g.160964
ttggagaaattatttaataaaaaaacaatcatttgctttttgaatgctctctaaaaggga c.*2340
. . . . . . g.161024
atgtaatattttaagatggtgtgtaacccggctggataaatttttggtgcctaagaaaac c.*2400
. . . . . . g.161084
tgcttgaatattcttatcaatgacagtgttaagtttcaaaaagagcttctaaaacgtaga c.*2460
. . . . . . g.161144
ttatcattcctttatagaatgttatgtggttaaaaccagaaagcacatctcacacattaa c.*2520
. . . . . . g.161204
tctgattttcatcccaacaatcttggcgctcaaaaaatagaactcaatgagaaaaagaag c.*2580
. . . . . . g.161264
attatgtgcacttcgttgtcaataataagtcaactgatgctcatcgacaactataggagg c.*2640
. . . . . . g.161324
cttttcattaaatgggaaaagaagctgtgcccttttaggatacgtgggggaaaagaaagt c.*2700
. . . . . . g.161384
catcttaattatgtttaattgtggatttaagtgctatatggtggtgctgtttgaaagcag c.*2760
. . . . . . g.161444
atttatttcctatgtatgtgttatctggccatcccaacccaaactgttgaagtttgtagt c.*2820
. . . . . . g.161504
aacttcagtgagagttggttactcacaacaaatcctgaaaagtatttttagtgtttgtag c.*2880
. . . . . . g.161564
gtattctgtgggatactatacaagcagaactgaggcacttaggacataacacttttgggg c.*2940
. . . . . . g.161624
tatatatatccaaatgcctaaaactatgggaggaaaccttggccaccccaaaaggaaaac c.*3000
. . . . . . g.161684
taacatgatttgtgtctatgaagtgctggataattagcatgggatgagctctgggcatgc c.*3060
. . . . . . g.161744
catgaaggaaagccacgctcccttcagaattcagaggcagggagcaattccagtttcacc c.*3120
. . . . . . g.161804
taagtctcataattttagttcccttttaaaaaccctgaaaactacatcaccatggaatga c.*3180
. . . . . . g.161864
aaaatattgttatacaatacattgatctgtcaaacttccagaaccatggtagccttcagt c.*3240
. . . . . . g.161924
gagatttccatcttggctggtcactccctgactgtagctgtaggtgaatgtgtttttgtg c.*3300
. . . . . . g.161984
tgtgtgtgtctggttttagtgtcagaagggaaataaaagtgtaaggaggacactttaaac c.*3360
. . . . . . g.162044
cctttgggtggagtttcgtaatttcccagactattttcaagcaacctggtccacccagga c.*3420
. . . . . . g.162104
ttagtgaccaggttttcaggaaaggatttgcttctctctagaaaatgtctgaaaggattt c.*3480
. . . . . . g.162164
tattttctgatgaaaggctgtatgaaaataccctcctcaaataacttgcttaactacata c.*3540
. . . . . . g.162224
tagattcaagtgtgtcaatattctattttgtatattaaatgctatataatggggacaaat c.*3600
. . . . . . g.162284
ctatattatactgtgtatggcattattaagaagctttttcattattttttatcacagtaa c.*3660
. . . . . . g.162344
ttttaaaatgtgtaaaaattaaaaccagtgactcctgtttaaaaataaaagttgtagttt c.*3720
. . . . . . g.162404
tttattcatgctgaataataatctgtagttaaaaaaaaagtgtctttttacctacgcagt c.*3780
. . . . . . g.162464
gaaatgtcagactgtaaaaccttgtgtggaaatgtttaacttttattttttcatttaaat c.*3840
. . . . . . g.162524
ttgctgttctggtattaccaaaccacacatttgtaccgaattggcagtaaatgttagcca c.*3900
. . . . . g.162582
tttacagcaatgccaaatatggagaaacatcataataaaaaaatctgctttttcatta c.*3958
(downstream sequence)
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