(used for variant description)
(last modified August 20, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_152309.2 in the PIK3AP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering PIK3AP1 transcript NM_152309.2.
(upstream sequence)
g.5008
gaagcgcc c.-121
. . . . . . g.5068
agagcggcggccggtcccgcgcggagcccggcgcccctccagcccgagccaggacgccgc c.-61
. . . . . . g.5128
cggccccggtcccggccccgggcacgcagcgagccagggatgtgagcggcgccccgcggc c.-1
. | 02 . . . . . g.15586
ATGGCAGCCTCAG | GGGTGCCCAGAGGATGCGACATCCTCATCGTCTACAGCCCGGATGCC c.60
M A A S G | V P R G C D I L I V Y S P D A p.20
. . . . . . g.15646
GAGGAATGGTGCCAGTACCTGCAGACCCTGTTCCTGTCCAGTCGGCAGGTCCGCAGCCAG c.120
E E W C Q Y L Q T L F L S S R Q V R S Q p.40
. . . . . . g.15706
AAGATACTGACTCACAGGCTGGGCCCCGAGGCCTCCTTCTCGGCAGAGGACCTAAGCCTT c.180
K I L T H R L G P E A S F S A E D L S L p.60
. . . . . . g.15766
TTCCTCAGCACCCGCTGTGTCGTGGTGCTGCTGTCCGCGGAGCTGGTGCAGCACTTCCAC c.240
F L S T R C V V V L L S A E L V Q H F H p.80
. . . . . . g.15826
AAGCCCGCCTTGCTGCCCCTGCTGCAGAGAGCTTTCCATCCTCCGCACCGCGTGGTCAGG c.300
K P A L L P L L Q R A F H P P H R V V R p.100
. . . . . . g.15886
CTGCTCTGCGGCGTGCGGGACAGCGAGGAGTTCCTAGACTTCTTTCCAGATTGGGCCCAT c.360
L L C G V R D S E E F L D F F P D W A H p.120
. . . . . . g.15946
TGGCAGGAGCTCACCTGTGACGATGAGCCAGAGACCTACGTGGCAGCTGTGAAAAAAGCC c.420
W Q E L T C D D E P E T Y V A A V K K A p.140
. | 03 . . . . . g.68638
ATTTCCGAAG | ATTCTGGCTGTGACTCAGTCACTGACACTGAGCCTGAGGACGAGAAGGTT c.480
I S E D | S G C D S V T D T E P E D E K V p.160
. . . . . . g.68698
GTTTCCTACTCGAAGCAGCAGAACCTGCCGACGGTGACTTCACCTGGGAACCTGATGGTG c.540
V S Y S K Q Q N L P T V T S P G N L M V p.180
. . | 04. . . . g.72713
GTGCAGCCGGACCGCATTCGCTGTGGG | GCAGAAACCACTGTCTATGTTATTGTGAGATGT c.600
V Q P D R I R C G | A E T T V Y V I V R C p.200
. . . . . . g.72773
AAGCTGGATGACAGGGTGGCGACAGAAGCAGAGTTTTCTCCTGAGGATTCTCCCTCTGTA c.660
K L D D R V A T E A E F S P E D S P S V p.220
. . . . . | 05 . g.73879
AGGATGGAAGCCAAGGTGGAGAATGAGTACACCATTTCAGTGAAGGCTCCCA | ACCTTTCA c.720
R M E A K V E N E Y T I S V K A P N | L S p.240
. . . . . . g.73939
TCTGGGAACGTTTCTCTGAAGATATATTCTGGAGACTTAGTGGTGTGTGAAACCGTTATC c.780
S G N V S L K I Y S G D L V V C E T V I p.260
. . . . . . g.73999
AGCTATTATACTGACATGGAAGAAATTGGGAATTTATTGTCCAATGCCGCGAATCCTGTG c.840
S Y Y T D M E E I G N L L S N A A N P V p.280
. | 06 . . . . . g.74187
GAATTCATGTGTCAG | GCCTTTAAAATTGTGCCCTACAACACAGAGACCCTTGATAAACTG c.900
E F M C Q | A F K I V P Y N T E T L D K L p.300
. . . . . . g.74247
CTAACCGAATCCCTGAAGAACAATATCCCTGCAAGCGGACTGCACCTCTTTGGAATCAAC c.960
L T E S L K N N I P A S G L H L F G I N p.320
. . | 07 . . . g.76699
CAGCTGGAAGAAGAAGATATGATGACAA | ATCAGAGGGATGAAGAGCTGCCCACCCTGTTG c.1020
Q L E E E D M M T N | Q R D E E L P T L L p.340
. . . . . . g.76759
CATTTTGCTGCGAAGTATGGACTGAAGAACCTCACTGCCTTGTTGCTCACCTGCCCAGGA c.1080
H F A A K Y G L K N L T A L L L T C P G p.360
. . . . . . g.76819
GCCCTGCAGGCGTACAGCGTGGCCAACAAGCATGGCCACTACCCCAACACCATCGCTGAG c.1140
A L Q A Y S V A N K H G H Y P N T I A E p.380
. . . . | 08 . . g.79875
AAACACGGCTTCAGGGACCTGCGGCAGTTCATCGACGAGTATGTG | GAAACGGTGGACATG c.1200
K H G F R D L R Q F I D E Y V | E T V D M p.400
. . . . . . g.79935
CTCAAGAGTCACATTAAAGAGGAACTGATGCACGGGGAGGAGGCTGATGCTGTGTACGAG c.1260
L K S H I K E E L M H G E E A D A V Y E p.420
. . . . . . g.79995
TCCATGGCCCACCTTTCCACAGACCTGCTTATGAAATGCTCGCTCAACCCCGGCTGTGAC c.1320
S M A H L S T D L L M K C S L N P G C D p.440
. . . . . | 09 . g.97034
GAGGATCTCTATGAGTCCATGGCTGCCTTTGTCCCAGCTGCCACTGAAGACCTCT | ATGTT c.1380
E D L Y E S M A A F V P A A T E D L Y | V p.460
. . . . . . g.97094
GAAATGCTTCAGGCCAGTACATCTAACCCAATCCCTGGAGATGGTTTCTCTCGGGCCACT c.1440
E M L Q A S T S N P I P G D G F S R A T p.480
. . . | 10 . . . g.98646
AAGGACTCTATGATCCGCAAGTTTTTAGAAG | GCAACAGCATGGGAATGACCAATCTGGAG c.1500
K D S M I R K F L E G | N S M G M T N L E p.500
. . . . . . g.98706
AGAGATCAGTGCCATCTTGGTCAGGAAGAAGATGTTTATCACACGGTGGATGACGATGAG c.1560
R D Q C H L G Q E E D V Y H T V D D D E p.520
. . . . . . g.98766
GCCTTTTCTGTGGACCTGGCCAGCAGGCCCCCTGTCCCAGTGCCCAGACCAGAGACCACT c.1620
A F S V D L A S R P P V P V P R P E T T p.540
. . . . | 11 . g.101996
GCTCCTGGTGCTCACCAGCTGCCTGACAACGAACCATACATTTTTAAAG | TTTTTGCAGAA c.1680
A P G A H Q L P D N E P Y I F K V | F A E p.560
. . . . . | 12 . g.104970
AAAAGTCAAGAGCGGCCTGGGAATTTCTACGTTTCCTCAGAGAGCATCAGGAAAG | GGCCG c.1740
K S Q E R P G N F Y V S S E S I R K G | P p.580
. . . . . . g.105030
CCCGTCAGACCATGGAGGGACAGGCCCCAGTCGAGTATATATGACCCTTTTGCGGGAATG c.1800
P V R P W R D R P Q S S I Y D P F A G M p.600
. . . . . . g.105090
AAAACGCCAGGCCAGCGGCAGCTTATCACCCTCCAGGAGCAGGTGAAGCTGGGCATTGTC c.1860
K T P G Q R Q L I T L Q E Q V K L G I V p.620
. . . . . . g.105150
AACGTGGATGAGGCTGTGCTCCACTTCAAAGAGTGGCAGCTCAACCAGAAGAAACGATCG c.1920
N V D E A V L H F K E W Q L N Q K K R S p.640
. . | 13 . . . . g.108850
GAGTCCTTTCGTTTCCAGCAG | GAAAATCTTAAACGGCTAAGAGACAGCATCACCCGAAGA c.1980
E S F R F Q Q | E N L K R L R D S I T R R p.660
. . . | 14 . . . g.115681
CAGAGAGAGAAGCAAAAATCAGGAAAGCAGACAG | ACTTGGAGATCACGGTCCCAATTCGG c.2040
Q R E K Q K S G K Q T D | L E I T V P I R p.680
. . . . . . g.115741
CACTCACAGCACCTGCCTGCAAAAGTGGAGTTTGGAGTCTATGAGAGTGGCCCCAGGAAA c.2100
H S Q H L P A K V E F G V Y E S G P R K p.700
. . . . . . g.115801
AGTGTCATTCCCCCTAGGACGGAGCTGAGACGAGGAGACTGGAAAACAGACAGCACCTCC c.2160
S V I P P R T E L R R G D W K T D S T S p.720
. | 15 . . . . . g.121523
AGCACAGCAA | GTAGCACAAGTAACCGCTCCAGCACCCGGAGCCTCCTCAGTGTGAGCAGC c.2220
S T A S | S T S N R S S T R S L L S V S S p.740
. . | 16 . . . . g.123163
GGGATGGAAGGGGACAACGAG | GATAATGAAGTCCCTGAGGTTACCAGAAGTCGCAGTCCA c.2280
G M E G D N E | D N E V P E V T R S R S P p.760
. . . . . . g.123223
GGCCCCCCACAAGTGGATGGGACACCCACCATGTCCCTCGAGAGACCCCCCAGGGTGCCT c.2340
G P P Q V D G T P T M S L E R P P R V P p.780
. . | 17 . . . . g.129928
CCGAGAGCTGCCTCACAGAG | GCCTCCGACCAGGGAGACCTTCCATCCTCCTCCACCTGTT c.2400
P R A A S Q R | P P T R E T F H P P P P V p.800
. g.129946
CCACCCAGAGGACGCTGA c.2418
P P R G R X p.805
. . . . . . g.130006
ttccacctcctaaaacctgcctacttcaggactttaagactcacagtcttcagcctgtta c.*60
. . . . . . g.130066
atgatgtcttcatgttgagttttatagcatgactgttgaccttaagatccattctcattg c.*120
. . . . . . g.130126
ctgataatgctgcagccctgctggtttgggcttgcctcgaagattttattaaggcacgaa c.*180
. . . . . . g.130186
gaagtgaaaaactaagggcttcattcaccatcaccaagtatatcgaaccatatacttgtt c.*240
. . . . . . g.130246
tgccaaaaggatgaagacttaatcgaaatacttacctctaatttgccatatcagaagcct c.*300
. . . . . . g.130306
aaaaagaatgatcataaatgtacttcaccagtgattttactgaaatgcacttatattagt c.*360
. . . . . . g.130366
ctttatgtatttgctagttcagcctgatttctagaagaggttatagtgtgagacttgtag c.*420
. . . . . . g.130426
tattcaagtaagataagtgacctaattttaaaataattcttctacttttctgtatattca c.*480
. . . . . . g.130486
gcagggtatttaagtgctagggctggtcacacacaaccaactgaaaaagactagagggat c.*540
. . . . . . g.130546
tagtacaaactcctcttatacagaaggcaaatctgaggttccacagaagtctggaaccaa c.*600
. . . . . . g.130606
gactattcagttggttaaataaagaggttagtctagactgggcctgctcattctaggtca c.*660
. . . . . . g.130666
ccacattttccatctccaaatagccaggccctctctccctcaagaaatgcccagatgtag c.*720
. . . . . . g.130726
aaattcatcagtgcctattggtcttccagaattttccatcttccgtatctcccaggcatg c.*780
. . . . . . g.130786
agactaccaagtttgtttgttttctttccaatttgggaatttatacttcagtatggtttc c.*840
. . . . . . g.130846
aacgcagttatgtttccagagaacatctagaagtggctggaaaccagaagctggggattc c.*900
. . . . . . g.130906
cagggaccccacttagtgctctatttcctttataggttttatttctggtcatagagagag c.*960
. . . . . . g.130966
aaggacctttgactttttcttcgttgaggcttctgaggaggaaaaacaaacctaaaatag c.*1020
. . . . . . g.131026
aaatacagtcagcctttcaaatccatgggttctgtgtccgtggattcaaccaaccttgga c.*1080
. . . . . . g.131086
tcaaaaatatttgaaaaaaaatctacaaagtttcaaaaagcaaaacttgaatttgctgca c.*1140
. . . . . . g.131146
tgccaagaagtatgttgaattcatgtaaatgaagtgatgtgtaggcattgtattagatat c.*1200
. . . . . . g.131206
tataagaaatctagaaatgatttaaagcatacaggaggatgtgcataggttatatgcaaa c.*1260
. . . . . . g.131266
tactatgctattttatatatgggacttgagcatttgtggattttgatactgggggatcct c.*1320
. . . . . . g.131326
ggaaccaatcccccatggataccaaagtacgactgtagttatctattttttacatactta c.*1380
. . . . . . g.131386
ttattaccaccatgctcagtaagtccatttttgcatggaatatggagccttaaaacatgt c.*1440
. . . . . . g.131446
catgaatttggagtccctggcacataaatctaccttcaaatcagaggtccttaatgatgc c.*1500
. . . . . . g.131506
ctaaacatacagtaaaattagaatcagaaatacttctttaaaaaatattcaaaatgtgtt c.*1560
. . . . . . g.131566
tgtttcccatgggattattctctatcccacacgaatgtaaaaaaatccacattaatgatc c.*1620
. . . . . . g.131626
catttaagtatagttttattgggtccttttctaatgattaaaggttctttctcaatttca c.*1680
. . . . . . g.131686
ttcctcagtcctgcaagtaaggactcatactgaagagtactgaaacaaggacttcttgtc c.*1740
. . . . . . g.131746
agaaacagcttctggaatcttgggttttgtttttgttttttgacaaaatacactattggc c.*1800
. . . . . . g.131806
catgtccatcacgagagtgtttgtagtaattaattaccttgtacaggacctggcacttag c.*1860
. . . . . . g.131866
tagcattcttcaaatgttccctcagtgatccttttactctccttgtcacttatttgggag c.*1920
. . . . . . g.131926
aaataggggcacgtgagataagaagaagaataattttgatgttggtatgcttgccctgtt c.*1980
. . . . . . g.131986
acttatagacagtctttgtcataggcaaacttgaatttgatttaaaatagggctgggaaa c.*2040
. . . . . . g.132046
aatattcaataactgtaagcccccttttggatgccaaacttagaattttgtacattctct c.*2100
. . . . . . g.132106
gatgaacaagcatttagatcgtaacatggtaaagcctattaccagccaatgttgttagca c.*2160
. . . . . . g.132166
tctttgtatgcacatcactgtttgtgcaatatatgaatattttgttgcattgtattctta c.*2220
. . . . g.132211
tataaaaataagtagaaaacataaaattgaaattgctgatgagaa c.*2265
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center