(used for variant description)
(last modified March 5, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_174936.3 in the PCSK9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PCSK9 transcript NM_174936.3.
(upstream sequence)
g.5002
gt c.-361
. . . . . . g.5062
ccgatggggctctggtggcgtgatctgcgcgccccaggcgtcaagcacccacaccctaga c.-301
. . . . . . g.5122
aggtttccgcagcgacgtcgaggcgctcatggttgcaggcgggcgccgccgttcagttca c.-241
. . . . . . g.5182
gggtctgagcctggaggagtgagccaggcagtgagactggctcgggcgggccgggacgcg c.-181
. . . . . . g.5242
tcgttgcagcagcggctcccagctcccagccaggattccgcgcgccccttcacgcgccct c.-121
. . . . . . g.5302
gctcctgaacttcagctcctgcacagtcctccccaccgcaaggctcaaggcgccgccggc c.-61
. . . . . . g.5362
gtggaccgcgcacggcctctaggtctcctcgccaggacagcaacctctcccctggccctc c.-1
. . . . . . g.5422
ATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTG c.60
M G T V S S R R S W W P L P L L L L L L p.20
. . . . . . g.5482
CTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAG c.120
L L L G P A G A R A Q E D E D G D Y E E p.40
. . . . . . g.5542
CTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACC c.180
L V L A L R S E E D G L A E A P E H G T p.60
. . | 02. . . . g.9400
ACAGCCACCTTCCACCGCTGCGCCAAG | GATCCGTGGAGGTTGCCTGGCACCTACGTGGTG c.240
T A T F H R C A K | D P W R L P G T Y V V p.80
. . . . . . g.9460
GTGCTGAAGGAGGAGACCCACCTCTCGCAGTCAGAGCGCACTGCCCGCCGCCTGCAGGCC c.300
V L K E E T H L S Q S E R T A R R L Q A p.100
. . . . . . g.9520
CAGGCTGCCCGCCGGGGATACCTCACCAAGATCCTGCATGTCTTCCATGGCCTTCTTCCT c.360
Q A A R R G Y L T K I L H V F H G L L P p.120
. . . | 03 . . g.12068
GGCTTCCTGGTGAAGATGAGTGGCGACCTGCTGGAGCTG | GCCTTGAAGTTGCCCCATGTC c.420
G F L V K M S G D L L E L | A L K L P H V p.140
. . . . . . g.12128
GACTACATCGAGGAGGACTCCTCTGTCTTTGCCCAGAGCATCCCGTGGAACCTGGAGCGG c.480
D Y I E E D S S V F A Q S I P W N L E R p.160
. . . . | 04 . . g.17819
ATTACCCCTCCACGGTACCGGGCGGATGAATACCAGCCCCCCG | ACGGAGGCAGCCTGGTG c.540
I T P P R Y R A D E Y Q P P D | G G S L V p.180
. . . . . . g.17879
GAGGTGTATCTCCTAGACACCAGCATACAGAGTGACCACCGGGAAATCGAGGGCAGGGTC c.600
E V Y L L D T S I Q S D H R E I E G R V p.200
. . . . . | 05. g.18177
ATGGTCACCGACTTCGAGAATGTGCCCGAGGAGGACGGGACCCGCTTCCACAGACAG | GCC c.660
M V T D F E N V P E E D G T R F H R Q | A p.220
. . . . . . g.18237
AGCAAGTGTGACAGTCATGGCACCCACCTGGCAGGGGTGGTCAGCGGCCGGGATGCCGGC c.720
S K C D S H G T H L A G V V S G R D A G p.240
. . . . . . g.18297
GTGGCCAAGGGTGCCAGCATGCGCAGCCTGCGCGTGCTCAACTGCCAAGGGAAGGGCACG c.780
V A K G A S M R S L R V L N C Q G K G T p.260
. | 06 . . . . g.21558
GTTAGCGGCACCCTCATAG | GCCTGGAGTTTATTCGGAAAAGCCAGCTGGTCCAGCCTGTG c.840
V S G T L I G | L E F I R K S Q L V Q P V p.280
. . . . . . g.21618
GGGCCACTGGTGGTGCTGCTGCCCCTGGCGGGTGGGTACAGCCGCGTCCTCAACGCCGCC c.900
G P L V V L L P L A G G Y S R V L N A A p.300
. . . . . . g.21678
TGCCAGCGCCTGGCGAGGGCTGGGGTCGTGCTGGTCACCGCTGCCGGCAACTTCCGGGAC c.960
C Q R L A R A G V V L V T A A G N F R D p.320
. . . | 07 . . . g.22879
GATGCCTGCCTCTACTCCCCAGCCTCAGCTCCCGAG | GTCATCACAGTTGGGGCCACCAAT c.1020
D A C L Y S P A S A P E | V I T V G A T N p.340
. . . . . . g.22939
GCCCAAGACCAGCCGGTGACCCTGGGGACTTTGGGGACCAACTTTGGCCGCTGTGTGGAC c.1080
A Q D Q P V T L G T L G T N F G R C V D p.360
. . . . . . g.22999
CTCTTTGCCCCAGGGGAGGACATCATTGGTGCCTCCAGCGACTGCAGCACCTGCTTTGTG c.1140
L F A P G E D I I G A S S D C S T C F V p.380
. . . . | 08 . . g.23580
TCACAGAGTGGGACATCACAGGCTGCTGCCCACGTGGCTG | GCATTGCAGCCATGATGCTG c.1200
S Q S G T S Q A A A H V A G | I A A M M L p.400
. . . . . . g.23640
TCTGCCGAGCCGGAGCTCACCCTGGCCGAGTTGAGGCAGAGACTGATCCACTTCTCTGCC c.1260
S A E P E L T L A E L R Q R L I H F S A p.420
. . . . . . g.23700
AAAGATGTCATCAATGAGGCCTGGTTCCCTGAGGACCAGCGGGTACTGACCCCCAACCTG c.1320
K D V I N E A W F P E D Q R V L T P N L p.440
. . . | 09 . . . g.24049
GTGGCCGCCCTGCCCCCCAGCACCCATGGGGCAG | GTTGGCAGCTGTTTTGCAGGACTGTA c.1380
V A A L P P S T H G A G | W Q L F C R T V p.460
. . . . . . g.24109
TGGTCAGCACACTCGGGGCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGAT c.1440
W S A H S G P T R M A T A V A R C A P D p.480
. . . . . . g.24169
GAGGAGCTGCTGAGCTGCTCCAGTTTCTCCAGGAGTGGGAAGCGGCGGGGCGAGCGCATG c.1500
E E L L S C S S F S R S G K R R G E R M p.500
| 10 . . . . . . g.25067
GAG | GCCCAAGGGGGCAAGCTGGTCTGCCGGGCCCACAACGCTTTTGGGGGTGAGGGTGTC c.1560
E | A Q G G K L V C R A H N A F G G E G V p.520
. . . . . . g.25127
TACGCCATTGCCAGGTGCTGCCTGCTACCCCAGGCCAACTGCAGCGTCCACACAGCTCCA c.1620
Y A I A R C C L L P Q A N C S V H T A P p.540
. . . . . . g.25187
CCAGCTGAGGCCAGCATGGGGACCCGTGTCCACTGCCACCAACAGGGCCACGTCCTCACA c.1680
P A E A S M G T R V H C H Q Q G H V L T p.560
| 11 . . . . . . g.26958
G | GCTGCAGCTCCCACTGGGAGGTGGAGGACCTTGGCACCCACAAGCCGCCTGTGCTGAGG c.1740
G | C S S H W E V E D L G T H K P P V L R p.580
. . . . . . g.27018
CCACGAGGTCAGCCCAACCAGTGCGTGGGCCACAGGGAGGCCAGCATCCACGCTTCCTGC c.1800
P R G Q P N Q C V G H R E A S I H A S C p.600
. . . . . . g.27078
TGCCATGCCCCAGGTCTGGAATGCAAAGTCAAGGAGCATGGAATCCCGGCCCCTCAGGAG c.1860
C H A P G L E C K V K E H G I P A P Q E p.620
| 12 . . . . . . g.28950
CAG | GTGACCGTGGCCTGCGAGGAGGGCTGGACCCTGACTGGCTGCAGTGCCCTCCCTGGG c.1920
Q | V T V A C E E G W T L T G C S A L P G p.640
. . . . . . g.29010
ACCTCCCACGTCCTGGGGGCCTACGCCGTAGACAACACGTGTGTAGTCAGGAGCCGGGAC c.1980
T S H V L G A Y A V D N T C V V R S R D p.660
. . . . . . g.29070
GTCAGCACTACAGGCAGCACCAGCGAAGGGGCCGTGACAGCCGTTGCCATCTGCTGCCGG c.2040
V S T T G S T S E G A V T A V A I C C R p.680
. . . g.29109
AGCCGGCACCTGGCGCAGGCCTCCCAGGAGCTCCAGTGA c.2079
S R H L A Q A S Q E L Q X p.692
. . . . . . g.29169
cagccccatcccaggatgggtgtctggggagggtcaagggctggggctgagctttaaaat c.*60
. . . . . . g.29229
ggttccgacttgtccctctctcagccctccatggcctggcacgaggggatggggatgctt c.*120
. . . . . . g.29289
ccgcctttccggggctgctggcctggcccttgagtggggcagcctccttgcctggaactc c.*180
. . . . . . g.29349
actcactctgggtgcctcctccccaggtggaggtgccaggaagctccctccctcactgtg c.*240
. . . . . . g.29409
gggcatttcaccattcaaacaggtcgagctgtgctcgggtgctgccagctgctcccaatg c.*300
. . . . . . g.29469
tgccgatgtccgtgggcagaatgacttttattgagctcttgttccgtgccaggcattcaa c.*360
. . . . . . g.29529
tcctcaggtctccaccaaggaggcaggattcttcccatggataggggagggggcggtagg c.*420
. . . . . . g.29589
ggctgcagggacaaacatcgttggggggtgagtgtgaaaggtgctgatggccctcatctc c.*480
. . . . . . g.29649
cagctaactgtggagaagcccctgggggctccctgattaatggaggcttagctttctgga c.*540
. . . . . . g.29709
tggcatctagccagaggctggagacaggtgcgcccctggtggtcacaggctgtgccttgg c.*600
. . . . . . g.29769
tttcctgagccacctttactctgctctatgccaggctgtgctagcaacacccaaaggtgg c.*660
. . . . . . g.29829
cctgcggggagccatcacctaggactgactcggcagtgtgcagtggtgcatgcactgtct c.*720
. . . . . . g.29889
cagccaacccgctccactacccggcagggtacacattcgcacccctacttcacagaggaa c.*780
. . . . . . g.29949
gaaacctggaaccagagggggcgtgcctgccaagctcacacagcaggaactgagccagaa c.*840
. . . . . . g.30009
acgcagattgggctggctctgaagccaagcctcttcttacttcacccggctgggctcctc c.*900
. . . . . . g.30069
atttttacgggtaacagtgaggctgggaaggggaacacagaccaggaagctcggtgagtg c.*960
. . . . . . g.30129
atggcagaacgatgcctgcaggcatggaactttttccgttatcacccaggcctgattcac c.*1020
. . . . . . g.30189
tggcctggcggagatgcttctaaggcatggtcgggggagagggccaacaactgtccctcc c.*1080
. . . . . . g.30249
ttgagcaccagccccacccaagcaagcagacatttatcttttgggtctgtcctctctgtt c.*1140
. . . . . . g.30309
gcctttttacagccaacttttctagacctgttttgcttttgtaacttgaagatatttatt c.*1200
. . . . . . g.30369
ctgggttttgtagcatttttattaatatggtgactttttaaaataaaaacaaacaaacgt c.*1260
g.30378
tgtcctaac c.*1269
(downstream sequence)
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