(used for variant description)
(last modified December 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000761.3 in the CYP1A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008431.1, covering CYP1A2 transcript NM_000761.3.
(upstream sequence)
g.31305
gaag c.-61
. . . . . . | 02 g.32197
ctccacaccagccattacaaccctgccaatctcaagcacctgcctctacag | ttggtacag c.-1
. . . . . . g.32257
ATGGCATTGTCCCAGTCTGTTCCCTTCTCGGCCACAGAGCTTCTCCTGGCCTCTGCCATC c.60
M A L S Q S V P F S A T E L L L A S A I p.20
. . . . . . g.32317
TTCTGCCTGGTATTCTGGGTGCTCAAGGGTTTGAGGCCTCGGGTCCCCAAAGGCCTGAAA c.120
F C L V F W V L K G L R P R V P K G L K p.40
. . . . . . g.32377
AGTCCACCAGAGCCATGGGGCTGGCCCTTGCTCGGGCATGTGCTGACCCTGGGGAAGAAC c.180
S P P E P W G W P L L G H V L T L G K N p.60
. . . . . . g.32437
CCGCACCTGGCACTGTCAAGGATGAGCCAGCGCTACGGGGACGTCCTGCAGATCCGCATT c.240
P H L A L S R M S Q R Y G D V L Q I R I p.80
. . . . . . g.32497
GGCTCCACGCCCGTGCTGGTGCTGAGCCGCCTGGACACCATCCGGCAGGCCCTGGTGCGG c.300
G S T P V L V L S R L D T I R Q A L V R p.100
. . . . . . g.32557
CAGGGCGACGATTTCAAGGGCCGGCCTGACCTCTACACCTCCACCCTCATCACTGATGGC c.360
Q G D D F K G R P D L Y T S T L I T D G p.120
. . . . . . g.32617
CAGAGCTTGACCTTCAGCACAGACTCTGGACCGGTGTGGGCTGCCCGCCGGCGCCTGGCC c.420
Q S L T F S T D S G P V W A A R R R L A p.140
. . . . . . g.32677
CAGAATGCCCTCAACACCTTCTCCATCGCCTCTGACCCAGCTTCCTCATCCTCCTGCTAC c.480
Q N A L N T F S I A S D P A S S S S C Y p.160
. . . . . . g.32737
CTGGAGGAGCATGTGAGCAAGGAGGCTAAGGCCCTGATCAGCAGGTTGCAGGAGCTGATG c.540
L E E H V S K E A K A L I S R L Q E L M p.180
. . . . . . g.32797
GCAGGGCCTGGGCACTTCGACCCTTACAATCAGGTGGTGGTGTCAGTGGCCAACGTCATT c.600
A G P G H F D P Y N Q V V V S V A N V I p.200
. . . . . . g.32857
GGTGCCATGTGCTTCGGACAGCACTTCCCTGAGAGTAGCGATGAGATGCTCAGCCTCGTG c.660
G A M C F G Q H F P E S S D E M L S L V p.220
. . . . . . g.32917
AAGAACACTCATGAGTTCGTGGAGACTGCCTCCTCCGGGAACCCCCTGGACTTCTTCCCC c.720
K N T H E F V E T A S S G N P L D F F P p.240
. . . . . . g.32977
ATCCTTCGCTACCTGCCTAACCCTGCCCTGCAGAGGTTCAAGGCCTTCAACCAGAGGTTC c.780
I L R Y L P N P A L Q R F K A F N Q R F p.260
. . . . . | 03 . g.33656
CTGTGGTTCCTGCAGAAAACAGTCCAGGAGCACTATCAGGACTTTGACAAG | AACAGTGTC c.840
L W F L Q K T V Q E H Y Q D F D K | N S V p.280
. . . . . . g.33716
CGGGACATCACGGGTGCCCTGTTCAAGCACAGCAAGAAGGGGCCTAGAGCCAGCGGCAAC c.900
R D I T G A L F K H S K K G P R A S G N p.300
. . . . . | 04 . g.34231
CTCATCCCACAGGAGAAGATTGTCAACCTTGTCAATGACATCTTTGGAGCAG | GATTTGAC c.960
L I P Q E K I V N L V N D I F G A G | F D p.320
. . . . . . g.34291
ACAGTCACCACAGCCATCTCCTGGAGCCTCATGTACCTTGTGACCAAGCCTGAGATACAG c.1020
T V T T A I S W S L M Y L V T K P E I Q p.340
. . | 05 . . . . g.34620
AGGAAGATCCAGAAGGAGCTGG | ACACTGTGATTGGCAGGGAGCGGCGGCCCCGGCTCTCT c.1080
R K I Q K E L D | T V I G R E R R P R L S p.360
. . . . . . g.34680
GACAGACCCCAGCTGCCCTACTTGGAGGCCTTCATCCTGGAGACCTTCCGACACTCCTCC c.1140
D R P Q L P Y L E A F I L E T F R H S S p.380
. . | 06 . . . . g.35676
TTCTTGCCCTTCACCATCCCCCACAG | CACAACAAGGGACACAACGCTGAATGGCTTCTAC c.1200
F L P F T I P H S | T T R D T T L N G F Y p.400
. . . . . | 07 . g.37256
ATCCCCAAGAAATGCTGTGTCTTCGTAAACCAGTGGCAGGTCAACCATGACCC | AGAGCTG c.1260
I P K K C C V F V N Q W Q V N H D P | E L p.420
. . . . . . g.37316
TGGGAGGACCCCTCTGAGTTCCGGCCTGAGCGGTTCCTCACCGCCGATGGCACTGCCATT c.1320
W E D P S E F R P E R F L T A D G T A I p.440
. . . . . . g.37376
AACAAGCCCTTGAGTGAGAAGATGATGCTGTTTGGCATGGGCAAGCGCCGGTGTATCGGG c.1380
N K P L S E K M M L F G M G K R R C I G p.460
. . . . . . g.37436
GAAGTCCTGGCCAAGTGGGAGATCTTCCTCTTCCTGGCCATCCTGCTACAGCAACTGGAG c.1440
E V L A K W E I F L F L A I L L Q Q L E p.480
. . . . . . g.37496
TTCAGCGTGCCGCCGGGCGTGAAAGTCGACCTGACCCCCATCTACGGGCTGACCATGAAG c.1500
F S V P P G V K V D L T P I Y G L T M K p.500
. . . . . g.37547
CACGCCCGCTGTGAACATGTCCAGGCGCGGCTGCGCTTCTCCATCAACTGA c.1551
H A R C E H V Q A R L R F S I N X p.516
. . . . . . g.37607
agaagacaccaccattctgaggccagggagcgagtgggggccagccacggggactcagcc c.*60
. . . . . . g.37667
cttgtttctcttcctttctttttttaaaaaatagcagctttagccaagtgcagggcctgt c.*120
. . . . . . g.37727
aatcccagcattttaggaggccaaggttggaggatcatttgagcccaggaattggaaagc c.*180
. . . . . . g.37787
agcctggccaacatagtgggaccctgtctctacaaaaaaaaaatttgccaagagcctgag c.*240
. . . . . . g.37847
tgacagagcaagaccccatctcaaaaaaaaaaacaaacaaacaaaaaaaaaaccatatat c.*300
. . . . . . g.37907
atacatatatatatagcagctttatggagatataattcttatgccatataattcaccttc c.*360
. . . . . . g.37967
tttttttttttttgtctgagacagaatctcagtctgtcacccaggttggagtgcagtggc c.*420
. . . . . . g.38027
gtgatctcagctcactgcaacctccacctcgcaggttcaagcaatcctcccacttcagcc c.*480
. . . . . . g.38087
tcccaagcacctgggattacaagcatgagtcactacgcctggctgatttttgtagtttta c.*540
. . . . . . g.38147
gtggagatggggtttcaccatgttggccaggcttgtctcgaactcctgaccccaagttat c.*600
. . . . . . g.38207
ccacctgccttggcttcccaaagtcctgggattacaggtgtgagccaccacatccagcct c.*660
. . . . . . g.38267
aacttacattcttaaagtgtcgaatgacttctagtgtagaattgtgcaaccatcaccaga c.*720
. . . . . . g.38327
attaattttattattcttattatttttgagacagagtcttactctgttgccaggctggag c.*780
. . . . . . g.38387
tgcagtggcgcgatctcagctcactacaacctccgcctcccatgttcaagcgattctcct c.*840
. . . . . . g.38447
gcctcagcctcccgagtagctgggactataggcatgcgccaccatggccagctaattttt c.*900
. . . . . . g.38507
gtatttttagtagagacgaggtttcactgtgttggccaggatggtctccatctcttgacc c.*960
. . . . . . g.38567
tcgtgatccacccgcctcagcctcccaaagtgctgggattaacaggtatgaaccaccgcg c.*1020
. . . . . . g.38627
cccagcctttttgttttttttttttttgagacagagtcttcctctgtctcctaagctgga c.*1080
. . . . . . g.38687
gtgcagtggcatcatctcagctcactgcaacctctgcctcccaggttcaagtgcttctcc c.*1140
. . . . . . g.38747
agcctcagcctcccaagtagctgagactacaggcacacaccaccacgcctggctaatttt c.*1200
. . . . . . g.38807
tgtatttttagtagagacgggtttcaccatgttggctagactagtctcaaactcctgacc c.*1260
. . . . . . g.38867
tcaagtgatctgcccgcctcgacctctctcaaagtgctggcattacaggtgtgagccacg c.*1320
. . . . . . g.38927
gtgcccggcccacaattaattttagaacattttcatcacccctaaaagaaaccctgcacc c.*1380
. . . . . . g.38987
cattagcagtccctccacatttccccctagcctgcctcccctgcctcaccagccctggca c.*1440
. . . . . . g.39047
actgctaatctactttctgtgtctatggatttgccttctctaaacatttcatataaatgg c.*1500
. g.39059
aattacacaatg c.*1512
(downstream sequence)
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