(used for variant description)
(last modified November 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001430.4 in the EPAS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016000.1, covering EPAS1 transcript NM_001430.4.
(upstream sequence)
. . . g.5030
gctttacactcgcgagcggaccgccacacg c.-481
. . . . . . g.5090
ggtccggtgcccgctgcgcttccgccccagcgctcctgaggcggccgtacaatcctcggc c.-421
. . . . . . g.5150
agtgtcctgagactgtatggtcagctcagcccggcctccgactccttccgactcccagca c.-361
. . . . . . g.5210
ttcgagccacttttttttttctttgaaaactcagaaaagtgactccttttccagggaaaa c.-301
. . . . . . g.5270
aggaacttgggttcccttctctccgtcctcttttcgggtctgacagcctccacccactcc c.-241
. . . . . . g.5330
ttccccggaccccgcctccgcgcgcaggttcctcccagtcacctttctccacccccgccc c.-181
. . . . . . g.5390
ccgcacctagcccgccgcgcgccaccttccacctgactgcgcggggcgctcgggacctgc c.-121
. . . . . . g.5450
gcgcacctcggaccttcaccacccgcccgggccgcggggagcggacgagggccacagccc c.-61
. . . . . . g.5510
cccacccgccagggagcccaggtgctcggcgtctgaacgtctcaaagggccacagcgaca c.-1
. . | 02 . . . . g.54505
ATGACAGCTGACAAGGAGAAGAAAAG | GAGTAGCTCGGAGAGGAGGAAGGAGAAGTCCCGG c.60
M T A D K E K K R | S S S E R R K E K S R p.20
. . . . . . g.54565
GATGCTGCGCGGTGCCGGCGGAGCAAGGAGACGGAGGTGTTCTATGAGCTGGCCCATGAG c.120
D A A R C R R S K E T E V F Y E L A H E p.40
. . . . . . g.54625
CTGCCTCTGCCCCACAGTGTGAGCTCCCATCTGGACAAGGCCTCCATCATGCGACTGGCA c.180
L P L P H S V S S H L D K A S I M R L A p.60
. . . | 03. . . g.63772
ATCAGCTTCCTGCGAACACACAAGCTCCTCTCCTCAG | TTTGCTCTGAAAACGAGTCCGAA c.240
I S F L R T H K L L S S V | C S E N E S E p.80
. . . . . . g.63832
GCCGAAGCTGACCAGCAGATGGACAACTTGTACCTGAAAGCCTTGGAGGGTTTCATTGCC c.300
A E A D Q Q M D N L Y L K A L E G F I A p.100
. . . . . . g.63892
GTGGTGACCCAAGATGGCGACATGATCTTTCTGTCAGAAAACATCAGCAAGTTCATGGGA c.360
V V T Q D G D M I F L S E N I S K F M G p.120
| 04 . . . . . g.64373
CTTACACAG | GTGGAGCTAACAGGACATAGTATCTTTGACTTCACTCATCCCTGCGACCAT c.420
L T Q | V E L T G H S I F D F T H P C D H p.140
. . . | 05 . . . g.68262
GAGGAGATTCGTGAGAACCTGAGTCTCAAAAATG | GCTCTGGTTTTGGGAAAAAAAGCAAA c.480
E E I R E N L S L K N G | S G F G K K S K p.160
. . . . . . g.68322
GACATGTCCACAGAGCGGGACTTCTTCATGAGGATGAAGTGCACGGTCACCAACAGAGGC c.540
D M S T E R D F F M R M K C T V T N R G p.180
. . . | 06 . . . g.68510
CGTACTGTCAACCTCAAGTCAGCCACCTGGAAG | GTCTTGCACTGCACGGGCCAGGTGAAA c.600
R T V N L K S A T W K | V L H C T G Q V K p.200
. . . . . . g.68570
GTCTACAACAACTGCCCTCCTCACAATAGTCTGTGTGGCTACAAGGAGCCCCTGCTGTCC c.660
V Y N N C P P H N S L C G Y K E P L L S p.220
. . . . . . g.68630
TGCCTCATCATCATGTGTGAACCAATCCAGCACCCATCCCACATGGACATCCCCCTGGAT c.720
C L I I M C E P I Q H P S H M D I P L D p.240
. . . . . | 07 g.77426
AGCAAGACCTTCCTGAGCCGCCACAGCATGGACATGAAGTTCACCTACTGTGATGACAG | A c.780
S K T F L S R H S M D M K F T Y C D D R | p.260
. . . . . . g.77486
ATCACAGAACTGATTGGTTACCACCCTGAGGAGCTGCTTGGCCGCTCAGCCTATGAATTC c.840
I T E L I G Y H P E E L L G R S A Y E F p.280
. . . . | 08 . . g.83302
TACCATGCGCTAGACTCCGAGAACATGACCAAGAGTCACCAGAACT | TGTGCACCAAGGGT c.900
Y H A L D S E N M T K S H Q N L | C T K G p.300
. . . . . . g.83362
CAGGTAGTAAGTGGCCAGTACCGGATGCTCGCAAAGCATGGGGGCTACGTGTGGCTGGAG c.960
Q V V S G Q Y R M L A K H G G Y V W L E p.320
. . . . . . g.83422
ACCCAGGGGACGGTCATCTACAACCCTCGCAACCTGCAGCCCCAGTGCATCATGTGTGTC c.1020
T Q G T V I Y N P R N L Q P Q C I M C V p.340
. | 09 . . . . . g.84183
AACTACGTCCTGAG | TGAGATTGAGAAGAATGACGTGGTGTTCTCCATGGACCAGACTGAA c.1080
N Y V L S | E I E K N D V V F S M D Q T E p.360
. . . . . . g.84243
TCCCTGTTCAAGCCCCACCTGATGGCCATGAACAGCATCTTTGATAGCAGTGGCAAGGGG c.1140
S L F K P H L M A M N S I F D S S G K G p.380
. . . . . . g.84303
GCTGTGTCTGAGAAGAGTAACTTCCTATTCACCAAGCTAAAGGAGGAGCCCGAGGAGCTG c.1200
A V S E K S N F L F T K L K E E P E E L p.400
. . . . | 10 . g.85503
GCCCAGCTGGCTCCCACCCCAGGAGACGCCATCATCTCTCTGGATTTCG | GGAATCAGAAC c.1260
A Q L A P T P G D A I I S L D F G | N Q N p.420
. . . . . . g.85563
TTCGAGGAGTCCTCAGCCTATGGCAAGGCCATCCTGCCCCCGAGCCAGCCATGGGCCACG c.1320
F E E S S A Y G K A I L P P S Q P W A T p.440
. . . . . . g.85623
GAGTTGAGGAGCCACAGCACCCAGAGCGAGGCTGGGAGCCTGCCTGCCTTCACCGTGCCC c.1380
E L R S H S T Q S E A G S L P A F T V P p.460
. . . . . . g.85683
CAGGCAGCTGCCCCGGGCAGCACCACCCCCAGTGCCACCAGCAGCAGCAGCAGCTGCTCC c.1440
Q A A A P G S T T P S A T S S S S S C S p.480
| 11 . . . . . . g.86312
ACG | CCCAATAGCCCTGAAGACTATTACACATCTTTGGATAACGACCTGAAGATTGAAGTG c.1500
T | P N S P E D Y Y T S L D N D L K I E V p.500
. . . . . | 12 . g.87831
ATTGAGAAGCTCTTCGCCATGGACACAGAGGCCAAGGACCAATGCAGTACCCAG | ACGGAT c.1560
I E K L F A M D T E A K D Q C S T Q | T D p.520
. . . . . . g.87891
TTCAATGAGCTGGACTTGGAGACACTGGCACCCTATATCCCCATGGACGGGGAAGACTTC c.1620
F N E L D L E T L A P Y I P M D G E D F p.540
. . . . . . g.87951
CAGCTAAGCCCCATCTGCCCCGAGGAGCGGCTCTTGGCGGAGAACCCACAGTCCACCCCC c.1680
Q L S P I C P E E R L L A E N P Q S T P p.560
. . . . . . g.88011
CAGCACTGCTTCAGTGCCATGACAAACATCTTCCAGCCACTGGCCCCTGTAGCCCCGCAC c.1740
Q H C F S A M T N I F Q P L A P V A P H p.580
. . . . . . g.88071
AGTCCCTTCCTCCTGGACAAGTTTCAGCAGCAGCTGGAGAGCAAGAAGACAGAGCCCGAG c.1800
S P F L L D K F Q Q Q L E S K K T E P E p.600
. . . . . . g.88131
CACCGGCCCATGTCCTCCATCTTCTTTGATGCCGGAAGCAAAGCATCCCTGCCACCGTGC c.1860
H R P M S S I F F D A G S K A S L P P C p.620
. . . . . . g.88191
TGTGGCCAGGCCAGCACCCCTCTCTCTTCCATGGGGGGCAGATCCAATACCCAGTGGCCC c.1920
C G Q A S T P L S S M G G R S N T Q W P p.640
. . . . . . g.88251
CCAGATCCACCATTACATTTTGGGCCCACAAAGTGGGCCGTCGGGGATCAGCGCACAGAG c.1980
P D P P L H F G P T K W A V G D Q R T E p.660
. . . . . . g.88311
TTCTTGGGAGCAGCGCCGTTGGGGCCCCCTGTCTCTCCACCCCATGTCTCCACCTTCAAG c.2040
F L G A A P L G P P V S P P H V S T F K p.680
| 13 . . . . . . g.89249
ACAAG | GTCTGCAAAGGGTTTTGGGGCTCGAGGCCCAGACGTGCTGAGTCCGGCCATGGTA c.2100
T R | S A K G F G A R G P D V L S P A M V p.700
. . . . . . g.89309
GCCCTCTCCAACAAGCTGAAGCTGAAGCGACAGCTGGAGTATGAAGAGCAAGCCTTCCAG c.2160
A L S N K L K L K R Q L E Y E E Q A F Q p.720
. | 14 . . . . . g.89621
GACCTGAGCGGG | GGGGACCCACCTGGTGGCAGCACCTCACATTTGATGTGGAAACGGATG c.2220
D L S G | G D P P G G S T S H L M W K R M p.740
. . . . . . g.89681
AAGAACCTCAGGGGTGGGAGCTGCCCTTTGATGCCGGACAAGCCACTGAGCGCAAATGTA c.2280
K N L R G G S C P L M P D K P L S A N V p.760
| 15. . . . . . g.90076
CCCAATG | ATAAGTTCACCCAAAACCCCATGAGGGGCCTGGGCCATCCCCTGAGACATCTG c.2340
P N D | K F T Q N P M R G L G H P L R H L p.780
. . . . . . g.90136
CCGCTGCCACAGCCTCCATCTGCCATCAGTCCCGGGGAGAACAGCAAGAGCAGGTTCCCC c.2400
P L P Q P P S A I S P G E N S K S R F P p.800
. . . . . . g.90196
CCACAGTGCTACGCCACCCAGTACCAGGACTACAGCCTGTCGTCAGCCCACAAGGTGTCA c.2460
P Q C Y A T Q Y Q D Y S L S S A H K V S p.820
| 16 . . . . . . g.92166
G | GCATGGCAAGCCGGCTGCTCGGGCCCTCATTTGAGTCCTACCTGCTGCCCGAACTGACC c.2520
G | M A S R L L G P S F E S Y L L P E L T p.840
. . . . . . g.92226
AGATATGACTGTGAGGTGAACGTGCCCGTGCTGGGAAGCTCCACGCTCCTGCAAGGAGGG c.2580
R Y D C E V N V P V L G S S T L L Q G G p.860
. . . g.92259
GACCTCCTCAGAGCCCTGGACCAGGCCACCTGA c.2613
D L L R A L D Q A T X p.870
. . . . . . g.92319
gccaggccttctacctgggcagcacctctgccgacgccgtcccaccagcttcactctctc c.*60
. . . . . . g.92379
cgtctgtttttgcaactaggtatttctaacgccagcacactatttacaagatggacttac c.*120
. . . . . . g.92439
ctggcagacttgcccaggtcaccaagcagtggcctttttctgagatgctcactttattat c.*180
. . . . . . g.92499
ccctatttttaaagtacacaattgttttacctgttctgaaatgttcttaaattttgtagg c.*240
. . . . . . g.92559
atttttttcctccccaccttcaatgacttctaatttatattatccataggtttctctccc c.*300
. . . . . . g.92619
tccttctccttctcacacacaactgtccatactaacaagtttggtgcatgtctgttcttc c.*360
. . . . . . g.92679
tgtagggagaagctttagcttcattttactaaaaagattcctcgttattgttgttgccaa c.*420
. . . . . . g.92739
agagaaacaaaaatgattttgctttccaagcttggtttgtggcgtctccctcgcagagcc c.*480
. . . . . . g.92799
cttctcgtttcttttttaaactaatcaccatattgtaaatttcagggttttttttttttt c.*540
. . . . . . g.92859
gtttaagctgactctttgctctaattttggaaaaaaagaaatgtgaagggtcaactccaa c.*600
. . . . . . g.92919
cgtatgtggttatctgtgaaagttgcacagcgtggcttttcctaaactggtgtttttccc c.*660
. . . . . . g.92979
ccgcatttggtggattttttattattattcaaaaacataactgagttttttaaaagagga c.*720
. . . . . . g.93039
gaaaatttatatctgggttaagtgtttatcatatatatgggtactttgtaatatctaaaa c.*780
. . . . . . g.93099
acttagaaacggaaatggaatcctgctcacaaaatcactttaagatcttttcgaagctgt c.*840
. . . . . . g.93159
taatttttcttagtgttgtggacactgcagacttgtccagtgctcccacggcctgtacgg c.*900
. . . . . . g.93219
acactgtggaaggcctccctctgtcggctttttgccatctgtgatatgccataggtgtga c.*960
. . . . . . g.93279
caatccgagcagtggagtcattcagcgggagcactgcgcgctatcccctcacattctcta c.*1020
. . . . . . g.93339
tgtactatgtatgtatgtattattattattgctgccaagagggtctgatggcacgttgtg c.*1080
. . . . . . g.93399
gggtcggggggtggggcggggaagtgctctaacttttcttaaggttttgttgctagccct c.*1140
. . . . . . g.93459
tcaagtgcactgagctatgtgactcggatggtctttcacacggcacatttggacatttcc c.*1200
. . . . . . g.93519
agaactaccatgagatggtttagacgggaattcatgcaaatgaggggtcaaaaatggtat c.*1260
. . . . . . g.93579
agtgaccccgtccacgtcctccaagctcacgaccttggagccccgtggagctggactgag c.*1320
. . . . . . g.93639
gaggaggctgcacagcgggagagcagctggtccagaccagccctgcagcccccactcagc c.*1380
. . . . . . g.93699
cggcagccagatggccccgcaaggcctccagggatggcccctagccacaggccctggctg c.*1440
. . . . . . g.93759
aggtctctgggtcggtcagtgacatgtaggtaggaagcactgaaaatagtgttcccagag c.*1500
. . . . . . g.93819
cactttgcaactccctgggtaagagggacgacacctctggtttttcaataccaattacat c.*1560
. . . . . . g.93879
ggaacttttctgtaatgggtacaatgaagaagtttctaaaaacacacacaaagcacattg c.*1620
. . . . . . g.93939
ggccaactatttagtaagcccggatagacttattgccaaaaacaaaaaatagctttcaaa c.*1680
. . . . . . g.93999
agaaatttaagttctatgagaaattccttagtcatggtgttgcgtaaatcatattttagc c.*1740
. . . . . . g.94059
tgcacggcattaccccacacagggtggcagaacttgaagggttactgacgtgtaaatgct c.*1800
. . . . . . g.94119
ggtatttgatttcctgtgtgtgttgccctggcattaagggcattttacccttgcagtttt c.*1860
. . . . . . g.94179
actaaaacactgaaaaatattccaagcttcatattaaccctacctgtcaacgtaacgatt c.*1920
. . . . . . g.94239
tcatgaacgttattatattgtcgaattcctactgacaacattataactgtatgggagctt c.*1980
. . . . . . g.94299
aactttataaggaaatgtattttgacactggtatcttattaaagtattctgatcctacca c.*2040
g.94302
ctg c.*2043
(downstream sequence)
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