(used for variant description)
(last modified July 20, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000497.3 in the CYP11B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007954.1, covering CYP11B1 transcript NM_000497.3.
(upstream sequence)
g.5007
cattgga c.-1
. . . . . . g.5067
ATGGCACTCAGGGCAAAGGCAGAGGTGTGCATGGCAGTGCCCTGGCTGTCCCTGCAAAGG c.60
M A L R A K A E V C M A V P W L S L Q R p.20
. . . . . . g.5127
GCACAGGCACTGGGCACGAGAGCCGCCCGGGTCCCCAGGACAGTGCTGCCCTTTGAAGCC c.120
A Q A L G T R A A R V P R T V L P F E A p.40
. . . . . . g.5187
ATGCCCCGGCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGT c.180
M P R R P G N R W L R L L Q I W R E Q G p.60
. . . . . | 02 g.5634
TATGAGGACCTGCACCTGGAAGTACACCAGACCTTCCAGGAACTAGGGCCCATTTTCAG | G c.240
Y E D L H L E V H Q T F Q E L G P I F R | p.80
. . . . . . g.5694
TACGACTTGGGAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGACGTGGAGAAGCTG c.300
Y D L G G A G M V C V M L P E D V E K L p.100
. . . . . . g.5754
CAACAGGTGGACAGCCTGCATCCCCACAGGATGAGCCTGGAGCCCTGGGTGGCCTACAGA c.360
Q Q V D S L H P H R M S L E P W V A Y R p.120
. . . | 03 . . . g.7623
CAACATCGTGGGCACAAATGTGGCGTGTTCTTGCT | GAATGGGCCTGAATGGCGCTTCAAC c.420
Q H R G H K C G V F L L | N G P E W R F N p.140
. . . . . . g.7683
CGATTGCGGCTGAATCCAGAAGTGCTGTCGCCCAACGCTGTGCAGAGGTTCCTCCCGATG c.480
R L R L N P E V L S P N A V Q R F L P M p.160
. . . . . . g.7743
GTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGAAGAAGAAGGTGCTGCAGAACGCC c.540
V D A V A R D F S Q A L K K K V L Q N A p.180
. . . . . | 04 . g.7940
CGGGGGAGCCTGACCCTGGACGTCCAGCCCAGCATCTTCCACTACACCATAGAAG | CCAGC c.600
R G S L T L D V Q P S I F H Y T I E A | S p.200
. . . . . . g.8000
AACTTGGCTCTTTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTTCTGCCAGC c.660
N L A L F G E R L G L V G H S P S S A S p.220
. . . . . . g.8060
CTGAACTTCCTCCATGCCCTGGAGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATG c.720
L N F L H A L E V M F K S T V Q L M F M p.240
. . . . . . g.8120
CCCAGGAGCCTGTCTCGCTGGACCAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGG c.780
P R S L S R W T S P K V W K E H F E A W p.260
. | 05 . . . . g.8466
GACTGCATCTTCCAGTACG | GCGACAACTGTATCCAGAAAATCTATCAGGAACTGGCCTTC c.840
D C I F Q Y G | D N C I Q K I Y Q E L A F p.280
. . . . . . g.8526
AGCCGCCCTCAACAGTACACCAGCATCGTGGCGGAGCTCCTGTTGAATGCGGAACTGTCG c.900
S R P Q Q Y T S I V A E L L L N A E L S p.300
. . . . . | 06 . g.8948
CCAGATGCCATCAAGGCCAACTCTATGGAACTCACTGCAGGGAGCGTGGACACG | ACGGTG c.960
P D A I K A N S M E L T A G S V D T | T V p.320
. . . . . . g.9008
TTTCCCTTGCTGATGACGCTCTTTGAGCTGGCTCGGAACCCCAACGTGCAGCAGGCCCTG c.1020
F P L L M T L F E L A R N P N V Q Q A L p.340
. . . . . . g.9068
CGCCAGGAGAGCCTGGCCGCCGCAGCCAGCATCAGTGAACATCCCCAGAAGGCAACCACC c.1080
R Q E S L A A A A S I S E H P Q K A T T p.360
. . . . | 07 . . g.9527
GAGCTGCCCTTGCTGCGTGCGGCCCTCAAGGAGACCTTGCG | GCTCTACCCTGTGGGTCTG c.1140
E L P L L R A A L K E T L R | L Y P V G L p.380
. . . . . . g.9587
TTTCTGGAGCGAGTGGCGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGG c.1200
F L E R V A S S D L V L Q N Y H I P A G p.400
| 08 . . . . . . g.9726
| ACATTGGTGCGCGTGTTCCTCTACTCTCTGGGTCGCAACCCCGCCTTGTTCCCGAGGCCT c.1260
| T L V R V F L Y S L G R N P A L F P R P p.420
. . . . . . g.9786
GAGCGCTATAACCCCCAGCGCTGGCTAGACATCAGGGGCTCCGGCAGGAACTTCTACCAC c.1320
E R Y N P Q R W L D I R G S G R N F Y H p.440
. . . . . . g.9846
GTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTTGGGCGGCGCCTGGCAGAGGCAGAGATG c.1380
V P F G F G M R Q C L G R R L A E A E M p.460
. | 09 . . . . g.10376
CTGCTGCTGCTGCACCAT | GTGCTGAAACACCTCCAGGTGGAGACACTAACCCAAGAGGAC c.1440
L L L L H H | V L K H L Q V E T L T Q E D p.480
. . . . . . g.10436
ATAAAGATGGTCTACAGCTTCATATTGAGGCCCAGCATGTTCCCCCTCCTCACCTTCAGA c.1500
I K M V Y S F I L R P S M F P L L T F R p.500
. g.10448
GCCATCAACTAA c.1512
A I N X p.503
. . . . . . g.10508
tcacgtctctgcacccagggtcccagcctggccaccagcctccctttctgcctgacccca c.*60
. . . . . . g.10568
ggccacccctcttctctcccacatgcacagcttcctgagtcacccctctgtctaaccagc c.*120
. . . . . . g.10628
cccagcacaaatggaactcccgagggcctctaggaccagggtttgccaggctaagcagca c.*180
. . . . . . g.10688
atgccagggcacagctggggaagatcttgctgaccttgtccccagccccacctggccctt c.*240
. . . . . . g.10748
tctccagcaagcactgtcctctgggcagtttgcccccatccctcccagtgctggctccag c.*300
. . . . . . g.10808
gctcctcgtgtggccatacaagggtgctgtggttttgtcccttgccttcctgcctagtct c.*360
. . . . . . g.10868
cacatgtccctgttcctcttcccctggccagggcccctgcgcagactgtcagagtcatta c.*420
. . . . . . g.10928
agcgggatcccagcatctcagagtccagtcaagttccctcctgcagcctgacccctaggc c.*480
. . . . . . g.10988
agctcgagcatgccctgagctctctgaaagttgtcaccctggaatagggtcctgcagggt c.*540
. . . . . . g.11048
agaataaaaaggcccctgtggtcacttgtcctgacatccccattttcaagtgatacaact c.*600
. . . . . . g.11108
gagtctcgagggacgtgtgttccccagctgatcgtgtcagcctcatgccccaggcctcat c.*660
. . . . . . g.11168
ctttcatggaccaggccttgttccaggagtgggtgttgggtcctctgcttcctgtgctgt c.*720
. . . . . . g.11228
cccctggggaaggtcccgaggatgctgtcaggagatggaagagtcatgtggggtgggaac c.*780
. . . . . . g.11288
ctggggtgtggttccagaaatgtttttggcaacaggagagacaggattgggccaacaagg c.*840
. . . . . . g.11348
actcagacgagttttattgactcatttctctggttgatacggagccatgtcatgtgccac c.*900
. . . . . . g.11408
gacctggggtgggcacagggaggctgcagtttcctgcgtgaacctgccttgggcctcatc c.*960
. . . . . . g.11468
tgctcctagcccagcagagagagttgacccctcctgaactggccactccccagtgctccc c.*1020
. . . . . . g.11528
gtgcagggagaggaagcacccagtttgagagtgtacccagccagactgtctttatctcca c.*1080
. . . . . . g.11588
tggattttcatcagggcaaagatcacagcagccagctcctggtggctgatgaggatcaga c.*1140
. . . . . . g.11648
gcatttgttcccccatgaaaggggaaatccctatggcatcattccagtggtggtcagtag c.*1200
. . . . . . g.11708
atccaggacgccctgcaggactcagcctgtacagggagatgaagtgccccaggttgggag c.*1260
. . . . . . g.11768
cacacctagctagagttatttgtgttaatctattcaggatgctctaagaaaacgccatag c.*1320
. . . . . . g.11828
actgggttgctgacaaacatcagaattctatttctcatggttctgaaggcttagaaggct c.*1380
. . . . . . g.11888
aagatcaaggtgtcagcaggttctgtgtctggtgaggacccacctcttgtttcatagata c.*1440
. . . . . . g.11948
aaaccttcttgctgtgtcctcacatggtggaaaagggcaagacagctcacagagacctct c.*1500
. . . . . . g.12008
tttataaggacgccagttccattcaagagggcactgcctgcattcccttcccccctcaaa c.*1560
. . . . . . g.12068
ggcccggccctgctattatcgtcaccttggtgactagatttcagcctatgaattctggag c.*1620
. . . . . . g.12128
gcggacacaaaaattcagattaaactactctgcttctgtttctctaaaatctacatcctt c.*1680
. . . . . . g.12188
ctcatatacaaaatacatgcatttctccccagtagccccaaatatcaactcattttagca c.*1740
. . . . . . g.12248
tcaactttaaaattgtagtccaaagtgtgatttaaatgttatctgagtcaaacatgggta c.*1800
. . . . . . g.12308
agactcaaggtacaatttatcctgagtccaactgttcttgctgcgaacctatgaaatcaa c.*1860
. . . . . . g.12368
acatgttatgtgcttccaaaatacagtggttggagaggcataggataaacattcccattc c.*1920
. . . . . . g.12428
cagaaaggagaaacaggaaagaagaaaggagtaacaagtttcaagcaactccaaaattga c.*1980
. . . g.12464
atgtgacaaacagtattaaaccttaagcctcaagaa c.*2016
(downstream sequence)
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