(used for variant description)
(last modified December 13, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000121.3 in the EPOR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021395.1, covering EPOR transcript NM_000121.3.
(upstream sequence)
. g.5015
cttagaggcgcctgg c.-121
. . . . . . g.5075
tcgggaagggcctggtcagctgcgtccggcggaggcagctgctgacccagctgtggactg c.-61
. . . . . . g.5135
tgccgggggcgggggacggaggggcaggagccctgggctccccgtggcgggggctgtatc c.-1
. . . . . . g.5195
ATGGACCACCTCGGGGCGTCCCTCTGGCCCCAGGTCGGCTCCCTTTGTCTCCTGCTCGCT c.60
M D H L G A S L W P Q V G S L C L L L A p.20
. . . . . | 02 . g.6115
GGGGCCGCCTGGGCGCCCCCGCCTAACCTCCCGGACCCCAAGTTCGAGAGCAAAG | CGGCC c.120
G A A W A P P P N L P D P K F E S K A | A p.40
. . . . . . g.6175
TTGCTGGCGGCCCGGGGGCCCGAAGAGCTTCTGTGCTTCACCGAGCGGTTGGAGGACTTG c.180
L L A A R G P E E L L C F T E R L E D L p.60
. . . . . . g.6235
GTGTGTTTCTGGGAGGAAGCGGCGAGCGCTGGGGTGGGCCCGGGCAACTACAGCTTCTCC c.240
V C F W E E A A S A G V G P G N Y S F S p.80
. | 03 . . . . . g.7286
TACCAGCTCGA | GGATGAGCCATGGAAGCTGTGTCGCCTGCACCAGGCTCCCACGGCTCGT c.300
Y Q L E | D E P W K L C R L H Q A P T A R p.100
. . . . . . g.7346
GGTGCGGTGCGCTTCTGGTGTTCGCTGCCTACAGCCGACACGTCGAGCTTCGTGCCCCTA c.360
G A V R F W C S L P T A D T S S F V P L p.120
. . . . . . g.7406
GAGTTGCGCGTCACAGCAGCCTCCGGCGCTCCGCGATATCACCGTGTCATCCACATCAAT c.420
E L R V T A A S G A P R Y H R V I H I N p.140
| 04. . . . . . g.7546
GAAGTAG | TGCTCCTAGACGCCCCCGTGGGGCTGGTGGCGCGGTTGGCTGACGAGAGCGGC c.480
E V V | L L D A P V G L V A R L A D E S G p.160
. . . . . . g.7606
CACGTAGTGTTGCGCTGGCTCCCGCCGCCTGAGACACCCATGACGTCTCACATCCGCTAC c.540
H V V L R W L P P P E T P M T S H I R Y p.180
. . . . | 05 . . g.8148
GAGGTGGACGTCTCGGCCGGCAACGGCGCAGGGAGCGTACAGAGG | GTGGAGATCCTGGAG c.600
E V D V S A G N G A G S V Q R | V E I L E p.200
. . . . . . g.8208
GGCCGCACCGAGTGTGTGCTGAGCAACCTGCGGGGCCGGACGCGCTACACCTTCGCCGTC c.660
G R T E C V L S N L R G R T R Y T F A V p.220
. . . . . . g.8268
CGCGCGCGTATGGCTGAGCCGAGCTTCGGCGGCTTCTGGAGCGCCTGGTCGGAGCCTGTG c.720
R A R M A E P S F G G F W S A W S E P V p.240
. | 06 . . . . g.8412
TCGCTGCTGACGCCTAGCG | ACCTGGACCCCCTCATCCTGACGCTCTCCCTCATCCTCGTG c.780
S L L T P S D | L D P L I L T L S L I L V p.260
. . . . | 07. . g.10577
GTCATCCTGGTGCTGCTGACCGTGCTCGCGCTGCTCTCCCACCGCCG | GGCTCTGAAGCAG c.840
V I L V L L T V L A L L S H R R | A L K Q p.280
. . . . . . g.10637
AAGATCTGGCCTGGCATCCCGAGCCCAGAGAGCGAGTTTGAAGGCCTCTTCACCACCCAC c.900
K I W P G I P S P E S E F E G L F T T H p.300
. | 08 . . . . . g.10792
AAGGGTAACTTCCAG | CTGTGGCTGTACCAGAATGATGGCTGCCTGTGGTGGAGCCCCTGC c.960
K G N F Q | L W L Y Q N D G C L W W S P C p.320
. . . . . . g.10852
ACCCCCTTCACGGAGGACCCACCTGCTTCCCTGGAAGTCCTCTCAGAGCGCTGCTGGGGG c.1020
T P F T E D P P A S L E V L S E R C W G p.340
. . . . . . g.10912
ACGATGCAGGCAGTGGAGCCGGGGACAGATGATGAGGGCCCCCTGCTGGAGCCAGTGGGC c.1080
T M Q A V E P G T D D E G P L L E P V G p.360
. . . . . . g.10972
AGTGAGCATGCCCAGGATACCTATCTGGTGCTGGACAAATGGTTGCTGCCCCGGAACCCG c.1140
S E H A Q D T Y L V L D K W L L P R N P p.380
. . . . . . g.11032
CCCAGTGAGGACCTCCCAGGGCCTGGTGGCAGTGTGGACATAGTGGCCATGGATGAAGGC c.1200
P S E D L P G P G G S V D I V A M D E G p.400
. . . . . . g.11092
TCAGAAGCATCCTCCTGCTCATCTGCTTTGGCCTCGAAGCCCAGCCCAGAGGGAGCCTCT c.1260
S E A S S C S S A L A S K P S P E G A S p.420
. . . . . . g.11152
GCTGCCAGCTTTGAGTACACTATCCTGGACCCCAGCTCCCAGCTCTTGCGTCCATGGACA c.1320
A A S F E Y T I L D P S S Q L L R P W T p.440
. . . . . . g.11212
CTGTGCCCTGAGCTGCCCCCTACCCCACCCCACCTAAAGTACCTGTACCTTGTGGTATCT c.1380
L C P E L P P T P P H L K Y L Y L V V S p.460
. . . . . . g.11272
GACTCTGGCATCTCAACTGACTACAGCTCAGGGGACTCCCAGGGAGCCCAAGGGGGCTTA c.1440
D S G I S T D Y S S G D S Q G A Q G G L p.480
. . . . . . g.11332
TCCGATGGCCCCTACTCCAACCCTTATGAGAACAGCCTTATCCCAGCCGCTGAGCCTCTG c.1500
S D G P Y S N P Y E N S L I P A A E P L p.500
. . g.11359
CCCCCCAGCTATGTGGCTTGCTCTTAG c.1527
P P S Y V A C S X p.508
. . . . . . g.11419
gacaccaggctgcagatgatcagggatccaatatgactcagagaaccagtgcagactcaa c.*60
. . . . . . g.11479
gacttatggaacagggatggcgaggcctctctcaggagcaggggcattgctgattttgtc c.*120
. . . . . . g.11539
tgcccaatccatcctgctcaggaaaccacaaccttgcagtatttttaaatatgtatagtt c.*180
. . . . . . g.11599
tttttttgtatctatatatatatatacacatatgtatgtaagtttttctaccatgatttc c.*240
. . . . . . g.11659
tacaaacaccctttaagtcccatcttcccctgggcataggccatagggatagaagttaaa c.*300
. . . . . . g.11719
gttcttgagcttattcagaagctggatctgcaatctgaatgctactcataacataacaaa c.*360
. . . . . . g.11779
atagtatgttaaacagctcttaaatcttactggcttaccacattaaatgatttctctctc c.*420
. . . . . . g.11839
ctaactcagctcaaatgggcagccatccatgggatgagtcagaggttcagactcttccag c.*480
. . . . . . g.11899
tctgtagctctaccttctcttagggtacttagatggatcccctgttctacaaactgccag c.*540
. . . . . . g.11959
tcagcaagggaagaaaaagggcagcaatgaccctcaatgggccatttgagggatctggcc c.*600
. . . . . . g.12019
tggaaatgggcttcctctcttcttctcacacctcactggctggaaacagtcacatgaccc c.*660
. . . . . . g.12079
cagtcacatgaaaggccaggaaacttagtttagctgtacacccaggaagggcaaagctgt c.*720
. . . . . g.12138
ttaagggccactagctagtctctgccactaataataataaaagtaattctgaatcaggc c.*779
(downstream sequence)
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