(used for variant description)
(last modified August 18, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000106.5 in the CYP2D6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008376.4, covering CYP2D6 transcript NM_000106.5.
(upstream sequence)
. . . g.5030
gtgctgagagtgtcctgcctggtcctctgt c.-61
. . . . . . g.5090
gcctggtggggtgggggtgccaggtgtgtccagaggagcccatttggtagtgaggcaggt c.-1
. . . . . . g.5150
ATGGGGCTAGAAGCACTGGTGCCCCTGGCCGTGATAGTGGCCATCTTCCTGCTCCTGGTG c.60
M G L E A L V P L A V I V A I F L L L V p.20
. . . . . . g.5210
GACCTGATGCACCGGCGCCAACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG c.120
D L M H R R Q R W A A R Y P P G P L P L p.40
. . . . . . g.5270
CCCGGGCTGGGCAACCTGCTGCATGTGGACTTCCAGAACACACCATACTGCTTCGACCAG c.180
P G L G N L L H V D F Q N T P Y C F D Q p.60
| 02 . . . . . . g.6032
| TTGCGGCGCCGCTTCGGGGACGTGTTCAGCCTGCAGCTGGCCTGGACGCCGGTGGTCGTG c.240
| L R R R F G D V F S L Q L A W T P V V V p.80
. . . . . . g.6092
CTCAATGGGCTGGCGGCCGTGCGCGAGGCGCTGGTGACCCACGGCGAGGACACCGCCGAC c.300
L N G L A A V R E A L V T H G E D T A D p.100
. . . . . | 03 . g.6704
CGCCCGCCTGTGCCCATCACCCAGATCCTGGGTTTCGGGCCGCGTTCCCAAG | GGGTGTTC c.360
R P P V P I T Q I L G F G P R S Q G | V F p.120
. . . . . . g.6764
CTGGCGCGCTATGGGCCCGCGTGGCGCGAGCAGAGGCGCTTCTCCGTCTCCACCTTGCGC c.420
L A R Y G P A W R E Q R R F S V S T L R p.140
. . . . . . g.6824
AACTTGGGCCTGGGCAAGAAGTCGCTGGAGCAGTGGGTGACCGAGGAGGCCGCCTGCCTT c.480
N L G L G K K S L E Q W V T E E A A C L p.160
. . | 04 . . . . g.6972
TGTGCCGCCTTCGCCAACCACTCCG | GACGCCCCTTTCGCCCCAACGGTCTCTTGGACAAA c.540
C A A F A N H S G | R P F R P N G L L D K p.180
. . . . . . g.7032
GCCGTGAGCAACGTGATCGCCTCCCTCACCTGCGGGCGCCGCTTCGAGTACGACGACCCT c.600
A V S N V I A S L T C G R R F E Y D D P p.200
. . . . . . g.7092
CGCTTCCTCAGGCTGCTGGACCTAGCTCAGGAGGGACTGAAGGAGGAGTCGGGCTTTCTG c.660
R F L R L L D L A Q E G L K E E S G F L p.220
| 05 . . . . . . g.7585
CGCGAG | GTGCTGAATGCTGTCCCCGTCCTCCTGCATATCCCAGCGCTGGCTGGCAAGGTC c.720
R E | V L N A V P V L L H I P A L A G K V p.240
. . . . . . g.7645
CTACGCTTCCAAAAGGCTTTCCTGACCCAGCTGGATGAGCTGCTAACTGAGCACAGGATG c.780
L R F Q K A F L T Q L D E L L T E H R M p.260
. . . . . . g.7705
ACCTGGGACCCAGCCCAGCCCCCCCGAGACCTGACTGAGGCCTTCCTGGCAGAGATGGAG c.840
T W D P A Q P P R D L T E A F L A E M E p.280
| 06 . . . . . . g.7955
AAG | GCCAAGGGGAACCCTGAGAGCAGCTTCAATGATGAGAACCTGTGCATAGTGGTGGCT c.900
K | A K G N P E S S F N D E N L C I V V A p.300
. . . . . . g.8015
GACCTGTTCTCTGCCGGGATGGTGACCACCTCGACCACGCTGGCCTGGGGCCTCCTGCTC c.960
D L F S A G M V T T S T T L A W G L L L p.320
. . | 07 . . . . g.8282
ATGATCCTACATCCGGATGTGCAGC | GCCGTGTCCAACAGGAGATCGACGACGTGATAGGG c.1020
M I L H P D V Q R | R V Q Q E I D D V I G p.340
. . . . . . g.8342
CAGGTGCGGCGACCAGAGATGGGTGACCAGGCTCACATGCCCTACACCACTGCCGTGATT c.1080
Q V R R P E M G D Q A H M P Y T T A V I p.360
. . . . . . g.8402
CATGAGGTGCAGCGCTTTGGGGACATCGTCCCCCTGGGTGTGACCCATATGACATCCCGT c.1140
H E V Q R F G D I V P L G V T H M T S R p.380
. . . | 08 . . . g.8916
GACATCGAAGTACAGGGCTTCCGCATCCCTAAG | GGAACGACACTCATCACCAACCTGTCA c.1200
D I E V Q G F R I P K | G T T L I T N L S p.400
. . . . . . g.8976
TCGGTGCTGAAGGATGAGGCCGTCTGGGAGAAGCCCTTCCGCTTCCACCCCGAACACTTC c.1260
S V L K D E A V W E K P F R F H P E H F p.420
. . . . . | 09 . g.9134
CTGGATGCCCAGGGCCACTTTGTGAAGCCGGAGGCCTTCCTGCCTTTCTCAGCAG | GCCGC c.1320
L D A Q G H F V K P E A F L P F S A G | R p.440
. . . . . . g.9194
CGTGCATGCCTCGGGGAGCCCCTGGCCCGCATGGAGCTCTTCCTCTTCTTCACCTCCCTG c.1380
R A C L G E P L A R M E L F L F F T S L p.460
. . . . . . g.9254
CTGCAGCACTTCAGCTTCTCGGTGCCCACTGGACAGCCCCGGCCCAGCCACCATGGTGTC c.1440
L Q H F S F S V P T G Q P R P S H H G V p.480
. . . . . g.9308
TTTGCTTTCCTGGTGACCCCATCCCCCTATGAGCTTTGTGCTGTGCCCCGCTAG c.1494
F A F L V T P S P Y E L C A V P R X p.497
. . . . . . g.9368
aatggggtacctagtccccagcctgctccctagccagaggctctaatgtacaataaagca c.*60
. g.9383
atgtggtagttccaa c.*75
(downstream sequence)
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