(used for variant description)
(last modified May 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000104.3 in the CYP1B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008386.1, covering CYP1B1 transcript NM_000104.3.
(upstream sequence)
. . . . g.5043
aaaacccggaggagcgggatggcgcgctttgactctggagtgg c.-361
. . . . . . g.5103
gagtgggagcgagcgcttctgcgactccagttgtgagagccgcaagggcatgggaattga c.-301
. . . . . . g.5163
cgccactcaccgacccccagtctcaatctcaacgctgtgaggaaacctcgactttgccag c.-241
. . . . . . g.5223
gtccccaagggcagcggggctcggcgagcgaggcacccttctccgtccccatcccaatcc c.-181
. . . . . . g.5283
aagcgctcctggcactgacgacgccaagagactcgagtgggagttaaagcttccagtgag c.-121
. . . . . . g.5343
ggcagcaggtgtccaggccgggcctgcgggttcctgttgacgtcttgccctaggcaaagg c.-61
. . . . . . | 02 g.5793
tcccagttccttctcggagccggctgtcccgcgccactggaaaccgcacctccccgcag | c c.-1
. . . . . . g.5853
ATGGGCACCAGCCTCAGCCCGAACGACCCTTGGCCGCTAAACCCGCTGTCCATCCAGCAG c.60
M G T S L S P N D P W P L N P L S I Q Q p.20
. . . . . . g.5913
ACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTGGGCCAGCGGCTGCTG c.120
T T L L L L L S V L A T V H V G Q R L L p.40
. . . . . . g.5973
AGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATC c.180
R Q R R R Q L R S A P P G P F A W P L I p.60
. . . . . . g.6033
GGAAACGCGGCGGCGGTGGGCCAGGCGGCTCACCTCTCGTTCGCTCGCCTGGCGCGGCGC c.240
G N A A A V G Q A A H L S F A R L A R R p.80
. . . . . . g.6093
TACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAG c.300
Y G D V F Q I R L G S C P I V V L N G E p.100
. . . . . . g.6153
CGCGCCATCCACCAGGCCCTGGTGCAGCAGGGCTCGGCCTTCGCCGACCGGCCGGCCTTC c.360
R A I H Q A L V Q Q G S A F A D R P A F p.120
. . . . . . g.6213
GCCTCCTTCCGTGTGGTGTCCGGCGGCCGCAGCATGGCTTTCGGCCACTACTCGGAGCAC c.420
A S F R V V S G G R S M A F G H Y S E H p.140
. . . . . . g.6273
TGGAAGGTGCAGCGGCGCGCAGCCCACAGCATGATGCGCAACTTCTTCACGCGCCAGCCG c.480
W K V Q R R A A H S M M R N F F T R Q P p.160
. . . . . . g.6333
CGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGCGAGCTGGTGGCGCTG c.540
R S R Q V L E G H V L S E A R E L V A L p.180
. . . . . . g.6393
CTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCC c.600
L V R G S A D G A F L D P R P L T V V A p.200
. . . . . . g.6453
GTGGCCAACGTCATGAGTGCCGTGTGTTTCGGCTGCCGCTACAGCCACGACGACCCCGAG c.660
V A N V M S A V C F G C R Y S H D D P E p.220
. . . . . . g.6513
TTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTG c.720
F R E L L S H N E E F G R T V G A G S L p.240
. . . . . . g.6573
GTGGACGTGATGCCCTGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAA c.780
V D V M P W L Q Y F P N P V R T V F R E p.260
. . . . . . g.6633
TTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCTTGAGGCACTGC c.840
F E Q L N R N F S N F I L D K F L R H C p.280
. . . . . . g.6693
GAAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCG c.900
E S L R P G A A P R D M M D A F I L S A p.300
. . . . . . g.6753
GAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGCGGCTGGATTTGGAGAACGTA c.960
E K K A A G D S H G G G A R L D L E N V p.320
. . . . . . g.6813
CCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAG c.1020
P A T I T D I F G A S Q D T L S T A L Q p.340
. . | 03 . . . . g.9908
TGGCTGCTCCTCCTCTTCACCAG | GTATCCTGATGTGCAGACTCGAGTGCAGGCAGAATTG c.1080
W L L L L F T R | Y P D V Q T R V Q A E L p.360
. . . . . . g.9968
GATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTAT c.1140
D Q V V G R D R L P C M G D Q P N L P Y p.380
. . . . . . g.10028
GTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTGTCACTATTCCT c.1200
V L A F L Y E A M R F S S F V P V T I P p.400
. . . . . . g.10088
CATGCCACCACTGCCAACACCTCTGTCTTGGGCTACCACATTCCCAAGGACACTGTGGTT c.1260
H A T T A N T S V L G Y H I P K D T V V p.420
. . . . . . g.10148
TTTGTCAACCAGTGGTCTGTGAATCATGACCCACTGAAGTGGCCTAACCCGGAGAACTTT c.1320
F V N Q W S V N H D P L K W P N P E N F p.440
. . . . . . g.10208
GATCCAGCTCGATTCTTGGACAAGGATGGCCTCATCAACAAGGACCTGACCAGCAGAGTG c.1380
D P A R F L D K D G L I N K D L T S R V p.460
. . . . . . g.10268
ATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGCAGCTT c.1440
M I F S V G K R R C I G E E L S K M Q L p.480
. . . . . . g.10328
TTTCTCTTCATCTCCATCCTGGCTCACCAGTGCGATTTCAGGGCCAACCCAAATGAGCCT c.1500
F L F I S I L A H Q C D F R A N P N E P p.500
. . . . . . g.10388
GCGAAAATGAATTTCAGTTATGGTCTAACCATTAAACCCAAGTCATTTAAAGTCAATGTC c.1560
A K M N F S Y G L T I K P K S F K V N V p.520
. . . . . . g.10448
ACTCTCAGAGAGTCCATGGAGCTCCTTGATAGTGCTGTCCAAAATTTACAAGCCAAGGAA c.1620
T L R E S M E L L D S A V Q N L Q A K E p.540
. g.10460
ACTTGCCAATAA c.1632
T C Q X p.543
. . . . . . g.10520
gaagcaagaggcaagctgaaattttagaaatattcacatcttcggagatgaggagtaaaa c.*60
. . . . . . g.10580
ttcagtttttttccagttcctcttttgtgctgcttctcaattagcgtttaaggtgagcat c.*120
. . . . . . g.10640
aaatcaactgtccatcaggtgaggtgtgctccatacccagcggttcttcatgagtagtgg c.*180
. . . . . . g.10700
gctatgcaggagcttctgggagatttttttgagtcaaagacttaaagggcccaatgaatt c.*240
. . . . . . g.10760
attatatacatactgcatcttggttatttctgaaggtagcattctttggagttaaaatgc c.*300
. . . . . . g.10820
acatatagacacatacacccaaacacttacaccaaactactgaatgaagcagtattttgg c.*360
. . . . . . g.10880
taaccaggccatttttggtgggaatccaagattggtctcccatatgcagaaatagacaaa c.*420
. . . . . . g.10940
aagtatattaaacaaagtttcagagtatattgttgaagagacagagacaagtaatttcag c.*480
. . . . . . g.11000
tgtaaagtgtgtgattgaaggtgataagggaaaagataaagaccagaaattcccttttca c.*540
. . . . . . g.11060
ccttttcaggaaaataacttagactctagtatttatgggtggatttatccttttgccttc c.*600
. . . . . . g.11120
tggtatacttccttacttttaaggataaatcataaagtcagttgctcaaaaagaaatcaa c.*660
. . . . . . g.11180
tagttgaattagtgagtatagtggggttccatgagttatcatgaattttaaagtatgcat c.*720
. . . . . . g.11240
tattaaattgtaaaactccaaggtgatgttgtacctcttttgcttgccaaagtacagaat c.*780
. . . . . . g.11300
ttgaattatcagcaaagaaaaaaaaaaaagccagccaagctttaaattatgtgaccataa c.*840
. . . . . . g.11360
tgtactgatttcagtaagtctcataggttaaaaaaaaaagtcaccaaatagtgtgaaata c.*900
. . . . . . g.11420
tattacttaactgtccgtaagcagtatattagtattatcttgttcaggaaaaggttgaat c.*960
. . . . . . g.11480
aatatatgccttgtataatattgaaaattgaaaagtacaactaacgcaaccaagtgtgct c.*1020
. . . . . . g.11540
aaaaatgagcttgattaaatcaaccacctatttttgacatggaaatgaagcagggtttct c.*1080
. . . . . . g.11600
tttcttcactcaaattttggcgaatctcaaaattagatcctaagatgtgttcttattttt c.*1140
. . . . . . g.11660
ataacatctttattgaaattctatttataatacagaatcttgttttgaaaataacctaat c.*1200
. . . . . . g.11720
taatatattaaaattccaaattcatggcatgcttaaattttaactaaattttaaagccat c.*1260
. . . . . . g.11780
tctgattattgagttccagttgaagttagtggaaatctgaacattctcctgtggaaggca c.*1320
. . . . . . g.11840
gagaaatctaagctgtgtctgcccaatgaataatggaaaatgccatgaattacctggatg c.*1380
. . . . . . g.11900
ttctttttacgaggtgacaagagttggggacagaactcccattacaactgaccaagtttc c.*1440
. . . . . . g.11960
tcttctagatgattttttgaaagttaacattaatgcctgctttttggaaagtcagaatca c.*1500
. . . . . . g.12020
gaagatagtcttggaagctgtttggaaaagacagtggagatgaggtcagttgtgtttttt c.*1560
. . . . . . g.12080
aagatggcaattactttggtagctgggaaagcataaagctcaaatgaaatgtatgcattc c.*1620
. . . . . . g.12140
acatttagaaaagtgaattgaagtttcaagttttaaagttcattgcaattaaacttccaa c.*1680
. . . . . . g.12200
agaaagttctacagtgtcctaagtgctaagtgcttattacattttattaagctttttgga c.*1740
. . . . . . g.12260
atctttgtaccaaaattttaaaaaagggagtttttgatagttgtgtgtatgtgtgtgtgg c.*1800
. . . . . . g.12320
ggtggggggatggtaagagaaaagagagaaacactgaaaagaaggaaagatggttaaaca c.*1860
. . . . . . g.12380
ttttcccactcattctgaattaattaatttggagcacaaaattcaaagcatggacattta c.*1920
. . . . . . g.12440
gaagaaagatgtttggcgtagcagagttaaatctcaaataggctattaaaaaagtctaca c.*1980
. . . . . . g.12500
acatagcagatctgttttgtggtttggaatattaaaaaacttcatgtaattttattttaa c.*2040
. . . . . . g.12560
aatttcatagctgtacttcttgaatataaaaaatcatgccagtatttttaaaggcattag c.*2100
. . . . . . g.12620
agtcaactacacaaagcaggcttgcccagtacatttaaattttttggcacttgccattcc c.*2160
. . . . . . g.12680
aaaatattatgccccaccaaggctgagacagtgaatttgggctgctgtagcctatttttt c.*2220
. . . . . . g.12740
tagattgagaaatgtgtagctgcaaaaataatcatgaaccaatctggatgcctcattatg c.*2280
. . . . . . g.12800
tcaaccaggtccagatgtgctataatctgtttttacgtatgtaggcccagtcgtcatcag c.*2340
. . . . . . g.12860
atgcttgcggcaaaaggaaagctgtgtttatatggaagaaagtaaggtgcttggagttta c.*2400
. . . . . . g.12920
cctggcttatttaatatgcttataacctagttaaagaaaggaaaagaaaacaaaaaacga c.*2460
. . . . . . g.12980
atgaaaataactgaatttggaggctggagtaatcagattactgctttaatcagaaaccct c.*2520
. . . . . . g.13040
cattgtgtttctaccggagagagaatgtatttgctgacaaccattaaagtcagaagtttt c.*2580
. . . . . . g.13100
actccaggttattgcaataaagtataatgtttattaaatgcttcatttgtatgtcaaagc c.*2640
. . . . . . g.13160
tttgactctataagcaaattgcttttttccaaaacaaaaagatgtctcaggtttgttttg c.*2700
. . . . . . g.13220
tgaattttctaaaagctttcatgtcccagaacttagcctttacctgtgaagtgttactac c.*2760
. . . . . . g.13280
agccttaatattttcctagtagatctatattagatcaaatagttgcatagcagtatatgt c.*2820
. . . . . . g.13340
taatttgtgtgtttttagctgtgacacaactgtgtgattaaaaggtatactttagtagac c.*2880
. . . . . . g.13400
atttataactcaaggataccttcttatttaatcttttcttatttttgtactttatcatga c.*2940
. . . . . . g.13460
atgcttttagtgtgtgcataatagctacagtgcatagttgtagacaaagtacattctggg c.*3000
. . . . . . g.13520
gaaacaacatttatatgtagcctttactgtttgatataccaaattaaaaaaaaattgtat c.*3060
. . . . . g.13579
ctcattacttatactgggacaccattaccaaaataataaaaatcactttcataatcttg c.*3119
(downstream sequence)
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