(used for variant description)
(last modified May 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000769.1 in the CYP2C19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008384.2, covering CYP2C19 transcript NM_000769.1.
(upstream sequence)
. . . . . . g.60
ATGGATCCTTTTGTGGTCCTTGTGCTCTGTCTCTCATGTTTGCTTCTCCTTTCAATCTGG c.60
M D P F V V L V L C L S C L L L L S I W p.20
. . . . . . g.120
AGACAGAGCTCTGGGAGAGGAAAACTCCCTCCTGGCCCCACTCCTCTCCCAGTGATTGGA c.120
R Q S S G R G K L P P G P T P L P V I G p.40
. . . . | 02 . g.12364
AATATCCTACAGATAGATATTAAGGATGTCAGCAAATCCTTAACCAAT | CTCTCAAAAATC c.180
N I L Q I D I K D V S K S L T N | L S K I p.60
. . . . . . g.12424
TATGGCCCTGTGTTCACTCTGTATTTTGGCCTGGAACGCATGGTGGTGCTGCATGGATAT c.240
Y G P V F T L Y F G L E R M V V L H G Y p.80
. . . . . . g.12484
GAAGTGGTGAAGGAAGCCCTGATTGATCTTGGAGAGGAGTTTTCTGGAAGAGGCCATTTC c.300
E V V K E A L I D L G E E F S G R G H F p.100
. . . | 03 . . . g.12713
CCACTGGCTGAAAGAGCTAACAGAGGATTTG | GAATCGTTTTCAGCAATGGAAAGAGATGG c.360
P L A E R A N R G F G | I V F S N G K R W p.120
. . . . . . g.12773
AAGGAGATCCGGCGTTTCTCCCTCATGACGCTGCGGAATTTTGGGATGGGGAAGAGGAGC c.420
K E I R R F S L M T L R N F G M G K R S p.140
. . . . . . g.12833
ATTGAGGACCGTGTTCAAGAGGAAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAAG c.480
I E D R V Q E E A R C L V E E L R K T K p.160
| 04 . . . . . . g.17852
G | CTTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGCAATGTGATCTGCTCC c.540
A | S P C D P T F I L G C A P C N V I C S p.180
. . . . . . g.17912
ATTATTTTCCAGAAACGTTTCGATTATAAAGATCAGCAATTTCTTAACTTGATGGAAAAA c.600
I I F Q K R F D Y K D Q Q F L N L M E K p.200
. . . . | 05 . . g.19133
TTGAATGAAAACATCAGGATTGTAAGCACCCCCTGGATCCAG | ATATGCAATAATTTTCCC c.660
L N E N I R I V S T P W I Q | I C N N F P p.220
. . . . . . g.19193
ACTATCATTGATTATTTCCCGGGAACCCATAACAAATTACTTAAAAACCTTGCTTTTATG c.720
T I I D Y F P G T H N K L L K N L A F M p.240
. . . . . . g.19253
GAAAGTGATATTTTGGAGAAAGTAAAAGAACACCAAGAATCGATGGACATCAACAACCCT c.780
E S D I L E K V K E H Q E S M D I N N P p.260
. . . | 06 . . g.57811
CGGGACTTTATTGATTGCTTCCTGATCAAAATGGAGAAG | GAAAAGCAAAACCAACAGTCT c.840
R D F I D C F L I K M E K | E K Q N Q Q S p.280
. . . . . . g.57871
GAATTCACTATTGAAAACTTGGTAATCACTGCAGCTGACTTACTTGGAGCTGGGACAGAG c.900
E F T I E N L V I T A A D L L G A G T E p.300
. . . . . . g.57931
ACAACAAGCACAACCCTGAGATATGCTCTCCTTCTCCTGCTGAAGCACCCAGAGGTCACA c.960
T T S T T L R Y A L L L L L K H P E V T p.320
| 07 . . . . . . g.80190
G | CTAAAGTCCAGGAAGAGATTGAACGTGTCATTGGCAGAAACCGGAGCCCCTGCATGCAG c.1020
A | K V Q E E I E R V I G R N R S P C M Q p.340
. . . . . . g.80250
GACAGGGGCCACATGCCCTACACAGATGCTGTGGTGCACGAGGTCCAGAGATACATCGAC c.1080
D R G H M P Y T D A V V H E V Q R Y I D p.360
. . . . . . g.80310
CTCATCCCCACCAGCCTGCCCCATGCAGTGACCTGTGACGTTAAATTCAGAAACTACCTC c.1140
L I P T S L P H A V T C D V K F R N Y L p.380
| 08 . . . . . g.87262
ATTCCCAAG | GGCACAACCATATTAACTTCCCTCACTTCTGTGCTACATGACAACAAAGAA c.1200
I P K | G T T I L T S L T S V L H D N K E p.400
. . . . . . g.87322
TTTCCCAACCCAGAGATGTTTGACCCTCGTCACTTTCTGGATGAAGGTGGAAATTTTAAG c.1260
F P N P E M F D P R H F L D E G G N F K p.420
. . . | 09 . . . g.90056
AAAAGTAACTACTTCATGCCTTTCTCAGCAG | GAAAACGGATTTGTGTGGGAGAGGGCCTG c.1320
K S N Y F M P F S A G | K R I C V G E G L p.440
. . . . . . g.90116
GCCCGCATGGAGCTGTTTTTATTCCTGACCTTCATTTTACAGAACTTTAACCTGAAATCT c.1380
A R M E L F L F L T F I L Q N F N L K S p.460
. . . . . . g.90176
CTGATTGACCCAAAGGACCTTGACACAACTCCTGTTGTCAATGGATTTGCTTCTGTCCCG c.1440
L I D P K D L D T T P V V N G F A S V P p.480
. . . g.90209
CCCTTCTATCAGCTGTGCTTCATTCCTGTCTGA c.1473
P F Y Q L C F I P V X p.490
(downstream sequence)
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