(used for variant description)
(last modified September 16, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_006218.2 in the PIK3CA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering PIK3CA transcript NM_006218.2.
(upstream sequence)
. . . g.5037
tctccctcggcgccgccgccgccgcccgcggggctgg c.-121
. . . . . | 02 . g.55243
gacccgatgcggttagagccgcggagcctggaagagccccgagc | gtttctgctttgggac c.-61
. . . . . . g.55303
aaccatacatctaattccttaaagtagttttatatgtaaaacttgcaaagaatcagaaca c.-1
. . . . . . g.55363
ATGCCTCCACGACCATCATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAATC c.60
M P P R P S S G E L W G I H L M P P R I p.20
. . . . . . g.55423
CTAGTAGAATGTTTACTACCAAATGGAATGATAGTGACTTTAGAATGCCTCCGTGAGGCT c.120
L V E C L L P N G M I V T L E C L R E A p.40
. . . . . . g.55483
ACATTAATAACCATAAAGCATGAACTATTTAAAGAAGCAAGAAAATACCCCCTCCATCAA c.180
T L I T I K H E L F K E A R K Y P L H Q p.60
. . . . . . g.55543
CTTCTTCAAGATGAATCTTCTTACATTTTCGTAAGTGTTACTCAAGAAGCAGAAAGGGAA c.240
L L Q D E S S Y I F V S V T Q E A E R E p.80
. . . . . . g.55603
GAATTTTTTGATGAAACAAGACGACTTTGTGACCTTCGGCTTTTTCAACCCTTTTTAAAA c.300
E F F D E T R R L C D L R L F Q P F L K p.100
. . . . . | 03 . g.56175
GTAATTGAACCAGTAGGCAACCGTGAAGAAAAGATCCTCAATCGAGAAATTG | GTTTTGCT c.360
V I E P V G N R E E K I L N R E I G | F A p.120
. . . . . . g.56235
ATCGGCATGCCAGTGTGTGAATTTGATATGGTTAAAGATCCAGAAGTACAGGACTTCCGA c.420
I G M P V C E F D M V K D P E V Q D F R p.140
. . . . . . g.56295
AGAAATATTCTGAACGTTTGTAAAGAAGCTGTGGATCTTAGGGACCTCAATTCACCTCAT c.480
R N I L N V C K E A V D L R D L N S P H p.160
. . . . . . g.56355
AGTAGAGCAATGTATGTCTATCCTCCAAATGTAGAATCTTCACCAGAATTGCCAAAGCAC c.540
S R A M Y V Y P P N V E S S P E L P K H p.180
. . | 04 . . . . g.57805
ATATATAATAAATTAGATAAAG | GGCAAATAATAGTGGTGATCTGGGTAATAGTTTCTCCA c.600
I Y N K L D K G | Q I I V V I W V I V S P p.200
. . . . . . g.57865
AATAATGACAAGCAGAAGTATACTCTGAAAATCAACCATGACTGTGTACCAGAACAAGTA c.660
N N D K Q K Y T L K I N H D C V P E Q V p.220
. . . . . . g.57925
ATTGCTGAAGCAATCAGGAAAAAAACTCGAAGTATGTTGCTATCCTCTGAACAACTAAAA c.720
I A E A I R K K T R S M L L S S E Q L K p.240
. . . . . . g.57985
CTCTGTGTTTTAGAATATCAGGGCAAGTATATTTTAAAAGTGTGTGGATGTGATGAATAC c.780
L C V L E Y Q G K Y I L K V C G C D E Y p.260
. . . | 05 . . . g.60048
TTCCTAGAAAAATATCCTCTGAGTCAGTATAAG | TATATAAGAAGCTGTATAATGCTTGGG c.840
F L E K Y P L S Q Y K | Y I R S C I M L G p.280
. . . . . . g.60108
AGGATGCCCAATTTGATGTTGATGGCTAAAGAAAGCCTTTATTCTCAACTGCCAATGGAC c.900
R M P N L M L M A K E S L Y S Q L P M D p.300
. . . . . . g.60168
TGTTTTACAATGCCATCTTATTCCAGACGCATTTCCACAGCTACACCATATATGAATGGA c.960
C F T M P S Y S R R I S T A T P Y M N G p.320
. . . . . . g.60228
GAAACATCTACAAAATCCCTTTGGGTTATAAATAGTGCACTCAGAATAAAAATTCTTTGT c.1020
E T S T K S L W V I N S A L R I K I L C p.340
. . . | 06 . . g.61001
GCAACCTACGTGAATGTAAATATTCGAGACATTGATAAG | ATCTATGTTCGAACAGGTATC c.1080
A T Y V N V N I R D I D K | I Y V R T G I p.360
. . . . . . g.61061
TACCATGGAGGAGAACCCTTATGTGACAATGTGAACACTCAAAGAGTACCTTGTTCCAAT c.1140
Y H G G E P L C D N V N T Q R V P C S N p.380
| 07 . . . . . . g.66127
CCCAG | GTGGAATGAATGGCTGAATTATGATATATACATTCCTGATCTTCCTCGTGCTGCT c.1200
P R | W N E W L N Y D I Y I P D L P R A A p.400
. . . . . | 08 . g.66672
CGACTTTGCCTTTCCATTTGCTCTGTTAAAGGCCGAAAGGGTGCTAAAGAG | GAACACTGT c.1260
R L C L S I C S V K G R K G A K E | E H C p.420
. . . . . . g.66732
CCATTGGCATGGGGAAATATAAACTTGTTTGATTACACAGACACTCTAGTATCTGGAAAA c.1320
P L A W G N I N L F D Y T D T L V S G K p.440
. . . . . . g.66792
ATGGCTTTGAATCTTTGGCCAGTACCTCATGGATTAGAAGATTTGCTGAACCCTATTGGT c.1380
M A L N L W P V P H G L E D L L N P I G p.460
. . | 09 . . . . g.66944
GTTACTGGATCAAATCCAAATAAA | GAAACTCCATGCTTAGAGTTGGAGTTTGACTGGTTC c.1440
V T G S N P N K | E T P C L E L E F D W F p.480
. . . . . . g.67004
AGCAGTGTGGTAAAGTTCCCAGATATGTCAGTGATTGAAGAGCATGCCAATTGGTCTGTA c.1500
S S V V K F P D M S V I E E H A N W S V p.500
. . . | 10 . . g.74708
TCCCGAGAAGCAGGATTTAGCTATTCCCACGCAGGACTG | AGTAACAGACTAGCTAGAGAC c.1560
S R E A G F S Y S H A G L | S N R L A R D p.520
. . . . . . g.74768
AATGAATTAAGGGAAAATGACAAAGAACAGCTCAAAGCAATTTCTACACGAGATCCTCTC c.1620
N E L R E N D K E Q L K A I S T R D P L p.540
. . . . | 11 . . g.75689
TCTGAAATCACTGAGCAGGAGAAAGATTTTCTATGGAGTCACAG | ACACTATTGTGTAACT c.1680
S E I T E Q E K D F L W S H R | H Y C V T p.560
. . . . . . g.75749
ATCCCCGAAATTCTACCCAAATTGCTTCTGTCTGTTAAATGGAATTCTAGAGATGAAGTA c.1740
I P E I L P K L L L S V K W N S R D E V p.580
| 12 . . . . . . g.76102
GCCCAG | ATGTATTGCTTGGTAAAAGATTGGCCTCCAATCAAACCTGAACAGGCTATGGAA c.1800
A Q | M Y C L V K D W P P I K P E Q A M E p.600
. . . . . . g.76162
CTTCTGGACTGTAATTACCCAGATCCTATGGTTCGAGGTTTTGCTGTTCGGTGCTTGGAA c.1860
L L D C N Y P D P M V R G F A V R C L E p.620
. . . . . | 13 . g.76435
AAATATTTAACAGATGACAAACTTTCTCAGTATTTAATTCAGCTAGTACAG | GTCCTAAAA c.1920
K Y L T D D K L S Q Y L I Q L V Q | V L K p.640
. . . . . . g.76495
TATGAACAATATTTGGATAACTTGCTTGTGAGATTTTTACTGAAGAAAGCATTGACTAAT c.1980
Y E Q Y L D N L L V R F L L K K A L T N p.660
. . . | 14 . . . g.77488
CAAAGGATTGGGCACTTTTTCTTTTGGCATTTAAA | ATCTGAGATGCACAATAAAACAGTT c.2040
Q R I G H F F F W H L K | S E M H N K T V p.680
. . . . . . g.77548
AGCCAGAGGTTTGGCCTGCTTTTGGAGTCCTATTGTCGTGCATGTGGGATGTATTTGAAG c.2100
S Q R F G L L L E S Y C R A C G M Y L K p.700
. . . . . . g.77608
CACCTGAATAGGCAAGTCGAGGCAATGGAAAAGCTCATTAACTTAACTGACATTCTCAAA c.2160
H L N R Q V E A M E K L I N L T D I L K p.720
. . | 15. . . . g.80591
CAGGAGAAGAAGGATGAAACACAAAAG | GTACAGATGAAGTTTTTAGTTGAGCAAATGAGG c.2220
Q E K K D E T Q K | V Q M K F L V E Q M R p.740
. . . . . . g.80651
CGACCAGATTTCATGGATGCTCTACAGGGCTTTCTGTCTCCTCTAAACCCTGCTCATCAA c.2280
R P D F M D A L Q G F L S P L N P A H Q p.760
. | 16 . . . . . g.81223
CTAGGAAACCTCAG | GCTTGAAGAGTGTCGAATTATGTCCTCTGCAAAAAGGCCACTGTGG c.2340
L G N L R | L E E C R I M S S A K R P L W p.780
. . . . . . g.81283
TTGAATTGGGAGAACCCAGACATCATGTCAGAGTTACTGTTTCAGAACAATGAGATCATC c.2400
L N W E N P D I M S E L L F Q N N E I I p.800
. | 17 . . . . . g.82483
TTTAAAAATGGGGATG | ATTTACGGCAAGATATGCTAACACTTCAAATTATTCGTATTATG c.2460
F K N G D D | L R Q D M L T L Q I I R I M p.820
. . . | 18 . . . g.85774
GAAAATATCTGGCAAAATCAAGGTCTTGATCTTCG | AATGTTACCTTATGGTTGTCTGTCA c.2520
E N I W Q N Q G L D L R | M L P Y G C L S p.840
. . . . . . g.85834
ATCGGTGACTGTGTGGGACTTATTGAGGTGGTGCGAAATTCTCACACTATTATGCAAATT c.2580
I G D C V G L I E V V R N S H T I M Q I p.860
. . . . . . g.85894
CAGTGCAAAGGCGGCTTGAAAGGTGCACTGCAGTTCAACAGCCACACACTACATCAGTGG c.2640
Q C K G G L K G A L Q F N S H T L H Q W p.880
. . | 19 . . . . g.86515
CTCAAAGACAAGAACAAAGGAGAAAT | ATATGATGCAGCCATTGACCTGTTTACACGTTCA c.2700
L K D K N K G E I | Y D A A I D L F T R S p.900
. . . . . . g.86575
TGTGCTGGATACTGTGTAGCTACCTTCATTTTGGGAATTGGAGATCGTCACAATAGTAAC c.2760
C A G Y C V A T F I L G I G D R H N S N p.920
. . | 20 . . . . g.86738
ATCATGGTGAAAGACGATGGACAA | CTGTTTCATATAGATTTTGGACACTTTTTGGATCAC c.2820
I M V K D D G Q | L F H I D F G H F L D H p.940
. . . . . . g.86798
AAGAAGAAAAAATTTGGTTATAAACGAGAACGTGTGCCATTTGTTTTGACACAGGATTTC c.2880
K K K K F G Y K R E R V P F V L T Q D F p.960
. . . . . | 21 . g.90575
TTAATAGTGATTAGTAAAGGAGCCCAAGAATGCACAAAGACAAGAGAATTTGAGAG | GTTT c.2940
L I V I S K G A Q E C T K T R E F E R | F p.980
. . . . . . g.90635
CAGGAGATGTGTTACAAGGCTTATCTAGCTATTCGACAGCATGCCAATCTCTTCATAAAT c.3000
Q E M C Y K A Y L A I R Q H A N L F I N p.1000
. . . . . . g.90695
CTTTTCTCAATGATGCTTGGCTCTGGAATGCCAGAACTACAATCTTTTGATGACATTGCA c.3060
L F S M M L G S G M P E L Q S F D D I A p.1020
. . . . . . g.90755
TACATTCGAAAGACCCTAGCCTTAGATAAAACTGAGCAAGAGGCTTTGGAGTATTTCATG c.3120
Y I R K T L A L D K T E Q E A L E Y F M p.1040
. . . . . . g.90815
AAACAAATGAATGATGCACATCATGGTGGCTGGACAACAAAAATGGATTGGATCTTCCAC c.3180
K Q M N D A H H G G W T T K M D W I F H p.1060
. . g.90842
ACAATTAAACAGCATGCATTGAACTGA c.3207
T I K Q H A L N X p.1068
. . . . . . g.90902
aaagataactgagaaaatgaaagctcactctggattccacactgcactgttaataactct c.*60
. . . . . . g.90962
cagcaggcaaagaccgattgcataggaattgcacaatccatgaacagcattagaatttac c.*120
. . . . . . g.91022
agcaagaacagaaataaaatactatataatttaaataatgtaaacgcaaacagggtttga c.*180
. . . . . . g.91082
tagcacttaaactagttcatttcaaaattaagctttagaataatgcgcaatttcatgtta c.*240
. . . . . . g.91142
tgccttaagtccaaaaaggtaaactttgaagattgtttgtatctttttttaaaaaacaaa c.*300
. . . . g.91190
acaaaacaaaaatccccaaaatatatagaaatgatggagaaggaaaaa c.*348
(downstream sequence)
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