(used for variant description)
(last modified January 14, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000602.4 in the SERPINE1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013213.1, covering SERPINE1 transcript NM_000602.4.
(upstream sequence)
. . . g.5028
ggcccacagaggagcacagctgtgtttggctgcaggg c.-121
. . . . . . g.5088
ccaagagcgctgtcaagaagacccacacgcccccctccagcagctgaattcctgcagctc c.-61
. . . . . . | 02 g.6296
agcagccgccgccagagcaggacgaaccgccaatcgcaaggcacctctgagaacttcag | g c.-1
. . . . . . g.6356
ATGCAGATGTCTCCAGCCCTCACCTGCCTAGTCCTGGGCCTGGCCCTTGTCTTTGGTGAA c.60
M Q M S P A L T C L V L G L A L V F G E p.20
. . . . . . g.6416
GGGTCTGCTGTGCACCATCCCCCATCCTACGTGGCCCACCTGGCCTCAGACTTCGGGGTG c.120
G S A V H H P P S Y V A H L A S D F G V p.40
. . . . . . g.6476
AGGGTGTTTCAGCAGGTGGCGCAGGCCTCCAAGGACCGCAACGTGGTTTTCTCACCCTAT c.180
R V F Q Q V A Q A S K D R N V V F S P Y p.60
. . . . . . g.6536
GGGGTGGCCTCGGTGTTGGCCATGCTCCAGCTGACAACAGGAGGAGAAACCCAGCAGCAG c.240
G V A S V L A M L Q L T T G G E T Q Q Q p.80
. . . | 03 . . . g.8352
ATTCAAGCAGCTATGGGATTCAAGATTGATG | ACAAGGGCATGGCCCCCGCCCTCCGGCAT c.300
I Q A A M G F K I D D | K G M A P A L R H p.100
. . . . . . g.8412
CTGTACAAGGAGCTCATGGGGCCATGGAACAAGGATGAGATCAGCACCACAGACGCGATC c.360
L Y K E L M G P W N K D E I S T T D A I p.120
. . . . . . g.8472
TTCGTCCAGCGGGATCTGAAGCTGGTCCAGGGCTTCATGCCCCACTTCTTCAGGCTGTTC c.420
F V Q R D L K L V Q G F M P H F F R L F p.140
. . . . . . g.8532
CGGAGCACGGTCAAGCAAGTGGACTTTTCAGAGGTGGAGAGAGCCAGATTCATCATCAAT c.480
R S T V K Q V D F S E V E R A R F I I N p.160
. . | 04 . . . . g.9812
GACTGGGTGAAGACACACACAAAAG | GTATGATCAGCAACTTGCTTGGGAAAGGAGCCGTG c.540
D W V K T H T K G | M I S N L L G K G A V p.180
. . . . . . g.9872
GACCAGCTGACACGGCTGGTGCTGGTGAATGCCCTCTACTTCAACGGCCAGTGGAAGACT c.600
D Q L T R L V L V N A L Y F N G Q W K T p.200
. . . . . . g.9932
CCCTTCCCCGACTCCAGCACCCACCGCCGCCTCTTCCACAAATCAGACGGCAGCACTGTC c.660
P F P D S S T H R R L F H K S D G S T V p.220
. . . . | 05 . . g.11617
TCTGTGCCCATGATGGCTCAGACCAACAAGTTCAACTATA | CTGAGTTCACCACGCCCGAT c.720
S V P M M A Q T N K F N Y T | E F T T P D p.240
. . . . . . g.11677
GGCCATTACTACGACATCCTGGAACTGCCCTACCACGGGGACACCCTCAGCATGTTCATT c.780
G H Y Y D I L E L P Y H G D T L S M F I p.260
. . . . . . g.11737
GCTGCCCCTTATGAAAAAGAGGTGCCTCTCTCTGCCCTCACCAACATTCTGAGTGCCCAG c.840
A A P Y E K E V P L S A L T N I L S A Q p.280
. . . . . | 06 g.13397
CTCATCAGCCACTGGAAAGGCAACATGACCAGGCTGCCCCGCCTCCTGGTTCTGCCCAA | G c.900
L I S H W K G N M T R L P R L L V L P K | p.300
. . . . . . g.13457
TTCTCCCTGGAGACTGAAGTCGACCTCAGGAAGCCCCTAGAGAACCTGGGAATGACCGAC c.960
F S L E T E V D L R K P L E N L G M T D p.320
. . . . | 07 . . g.13637
ATGTTCAGACAGTTTCAGGCTGACTTCACGAGTCTTTCAG | ACCAAGAGCCTCTCCACGTC c.1020
M F R Q F Q A D F T S L S D | Q E P L H V p.340
. . . . . . g.13697
GCGCAGGCGCTGCAGAAAGTGAAGATCGAGGTGAACGAGAGTGGCACGGTGGCCTCCTCA c.1080
A Q A L Q K V K I E V N E S G T V A S S p.360
| 08. . . . . . g.14956
TCCACAG | CTGTCATAGTCTCAGCCCGCATGGCCCCCGAGGAGATCATCATGGACAGACCC c.1140
S T A | V I V S A R M A P E E I I M D R P p.380
. . . | 09 . . . g.15336
TTCCTCTTTGTGGTCCGGCACAACCCCACAG | GAACAGTCCTTTTCATGGGCCAAGTGATG c.1200
F L F V V R H N P T G | T V L F M G Q V M p.400
g.15345
GAACCCTGA c.1209
E P X p.402
. . . . . . g.15405
ccctggggaaagacgccttcatctgggacaaaactggagatgcatcgggaaagaagaaac c.*60
. . . . . . g.15465
tccgaagaaaagaattttagtgttaatgactctttctgaaggaagagaagacatttgcct c.*120
. . . . . . g.15525
tttgttaaaagatggtaaaccagatctgtctccaagaccttggcctctccttggaggacc c.*180
. . . . . . g.15585
tttaggtcaaactccctagtctccacctgagaccctgggagagaagtttgaagcacaact c.*240
. . . . . . g.15645
cccttaaggtctccaaaccagacggtgacgcctgcgggaccatctggggcacctgcttcc c.*300
. . . . . . g.15705
acccgtctctctgcccactcgggtctgcagacctggttcccactgaggccctttgcagga c.*360
. . . . . . g.15765
tggaactacggggcttacaggagcttttgtgtgcctggtagaaactatttctgttccagt c.*420
. . . . . . g.15825
cacattgccatcactcttgtactgcctgccaccgcggaggaggctggtgacaggccaaag c.*480
. . . . . . g.15885
gccagtggaagaaacaccctttcatctcagagtccactgtggcactggccacccctcccc c.*540
. . . . . . g.15945
agtacaggggtgctgcaggtggcagagtgaatgtcccccatcatgtggcccaactctcct c.*600
. . . . . . g.16005
ggcctggccatctccctccccagaaacagtgtgcatgggttattttggagtgtaggtgac c.*660
. . . . . . g.16065
ttgtttactcattgaagcagatttctgcttccttttatttttataggaatagaggaagaa c.*720
. . . . . . g.16125
atgtcagatgcgtgcccagctcttcaccccccaatctcttggtggggaggggtgtaccta c.*780
. . . . . . g.16185
aatatttatcatatccttgcccttgagtgcttgttagagagaaagagaactactaaggaa c.*840
. . . . . . g.16245
aataatattatttaaactcgctcctagtgtttctttgtggtctgtgtcaccgtatctcag c.*900
. . . . . . g.16305
gaagtccagccacttgactggcacacacccctccggacatccagcgtgacggagcccaca c.*960
. . . . . . g.16365
ctgccaccttgtggccgcctgagaccctcgcgccccccgcgcccctctttttccccttga c.*1020
. . . . . . g.16425
tggaaattgaccatacaatttcatcctccttcaggggatcaaaaggacggagtgggggga c.*1080
. . . . . . g.16485
cagagactcagatgaggacagagtggtttccaatgtgttcaatagatttaggagcagaaa c.*1140
. . . . . . g.16545
tgcaaggggctgcatgacctaccaggacagaactttccccaattacagggtgactcacag c.*1200
. . . . . . g.16605
ccgcattggtgactcacttcaatgtgtcatttccggctgctgtgtgtgagcagtggacac c.*1260
. . . . . . g.16665
gtgaggggggggtgggtgagagagacaggcagctcggattcaactaccttagataatatt c.*1320
. . . . . . g.16725
tctgaaaacctaccagccagagggtagggcacaaagatggatgtaatgcactttgggagg c.*1380
. . . . . . g.16785
ccaaggcgggaggattgcttgagcccaggagttcaagaccagcctgggcaacataccaag c.*1440
. . . . . . g.16845
acccccgtctctttaaaaatatatatattttaaatatacttaaatatatatttctaatat c.*1500
. . . . . . g.16905
ctttaaatatatatatatattttaaagaccaatttatgggagaattgcacacagatgtga c.*1560
. . . . . . g.16965
aatgaatgtaatctaatagaagcctaatcagcccaccatgttctccactgaaaaatcctc c.*1620
. . . . . . g.17025
tttctttggggtttttctttctttcttttttgattttgcactggacggtgacgtcagcca c.*1680
. . . . . . g.17085
tgtacaggatccacaggggtggtgtcaaatgctattgaaattgtgttgaattgtatgctt c.*1740
. . . . . . g.17145
tttcacttttgataaataaacatgtaaaaatgtttcaaaaaaataataaaataaataaat c.*1800
. . g.17169
acgaagaatatgtcaggacagtca c.*1824
(downstream sequence)
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