(used for variant description)
(last modified August 6, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_012398.2 in the PIP5K1C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering PIP5K1C transcript NM_012398.2.
(upstream sequence)
. . g.5029
ctcccttggccggcggcgcttgttgttcg c.-61
. . . . . . g.5089
gcggcggcggtcgcagctcgggtccccctcgggcgcccccgccgccgtccgcgcgcggcc c.-1
. . . . . . g.5149
ATGGAGCTGGAGGTACCGGACGAGGCGGAGAGCGCTGAGGCGGGGGCCGTGCCCTCGGAG c.60
M E L E V P D E A E S A E A G A V P S E p.20
. . . | 02 . . . g.38152
GCGGCGTGGGCGGCAGAGAGCGGGGCGGCGGCAG | GTTTGGCTCAGAAGAAGGCGGCCCCA c.120
A A W A A E S G A A A G | L A Q K K A A P p.40
| 03 . . . . . . g.40619
ACAGAG | GTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCAT c.180
T E | V L S M T A Q P G P G H G K K L G H p.60
. . . | 04 . . g.43499
CGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAG | ACCACCTCCTCCACCCTGAAG c.240
R G V D A S G E T T Y K K | T T S S T L K p.80
. . . . . . g.43559
GGTGCCATCCAGCTGGGCATCGGCTACACCGTGGGCCACCTGAGCTCCAAGCCCGAACGC c.300
G A I Q L G I G Y T V G H L S S K P E R p.100
. . . . . | 05 . g.44406
GACGTGCTCATGCAGGACTTCTACGTGGTGGAGAGCATCTTCTTCCCCAG | CGAAGGCAGC c.360
D V L M Q D F Y V V E S I F F P S | E G S p.120
. . . . . . g.44466
AACCTCACCCCCGCCCACCACTTCCAGGACTTCCGCTTCAAGACCTATGCACCTGTCGCC c.420
N L T P A H H F Q D F R F K T Y A P V A p.140
. . . . | 06 . g.48934
TTCCGCTACTTCCGGGAGCTCTTTGGGATCCGGCCAGATGATTACTTG | TACTCCCTGTGC c.480
F R Y F R E L F G I R P D D Y L | Y S L C p.160
. . . . . . g.48994
AATGAGCCGCTGATCGAGCTGTCCAACCCGGGCGCCAGTGGCTCCCTCTTCTACGTCACC c.540
N E P L I E L S N P G A S G S L F Y V T p.180
. . . . . . g.49054
AGCGACGACGAGTTCATCATCAAGACCGTCATGCACAAGGAGGCCGAGTTCCTGCAGAAG c.600
S D D E F I I K T V M H K E A E F L Q K p.200
. . | 07 . . . . g.51929
CTGCTCCCTGGCTACTACATG | AACCTCAACCAGAACCCGCGGACGCTGCTGCCCAAGTTC c.660
L L P G Y Y M | N L N Q N P R T L L P K F p.220
. . . . . . g.51989
TATGGGCTGTACTGCGTGCAGTCGGGGGGCAAGAACATCCGCGTCGTGGTCATGAACAAC c.720
Y G L Y C V Q S G G K N I R V V V M N N p.240
. . . . . . g.52049
ATCCTGCCCCGCGTGGTCAAGATGCACCTCAAGTTCGACCTCAAGGGCTCCACCTACAAG c.780
I L P R V V K M H L K F D L K G S T Y K p.260
. . . . . . g.52109
CGGCGCGCCAGCAAGAAGGAGAAGGAGAAGAGCTTCCCCACCTACAAGGACCTGGACTTC c.840
R R A S K K E K E K S F P T Y K D L D F p.280
. . . . . . g.52169
ATGCAGGACATGCCCGAGGGGCTCCTGCTGGACGCCGACACCTTCAGCGCCCTGGTCAAG c.900
M Q D M P E G L L L D A D T F S A L V K p.300
. . | 08 . . . . g.53487
ACGCTGCAGCGGGACTGCCTG | GTCCTGGAAAGTTTCAAGATCATGGACTACAGCCTGCTG c.960
T L Q R D C L | V L E S F K I M D Y S L L p.320
. . . . . . g.53547
CTGGGCGTGCACAACATCGACCAGCACGAGCGCGAGCGGCAGGCGCAGGGCGCCCAGAGC c.1020
L G V H N I D Q H E R E R Q A Q G A Q S p.340
. . . . . . g.53607
ACCTCAGATGAGAAGCGGCCTGTGGGCCAGAAGGCGCTCTACTCCACGGCCATGGAGTCC c.1080
T S D E K R P V G Q K A L Y S T A M E S p.360
. . . . | 09. . g.56784
ATCCAGGGTGGCGCCGCGCGCGGGGAGGCCATCGAATCGGATGACAC | GATGGGCGGGATC c.1140
I Q G G A A R G E A I E S D D T | M G G I p.380
. . . . . . g.56844
CCCGCTGTGAACGGCCGCGGGGAGCGGCTGCTGCTGCACATTGGCATCATCGACATCCTG c.1200
P A V N G R G E R L L L H I G I I D I L p.400
. | 10 . . . . . g.58142
CAGTCCTACAG | GTTCATCAAGAAACTGGAGCACACCTGGAAGGCCCTCGTCCACGATGGG c.1260
Q S Y R | F I K K L E H T W K A L V H D G p.420
| 11 . . . . . . g.59481
| GACACGGTGTCCGTCCACCGCCCCAGCTTCTATGCCGAGCGCTTTTTCAAGTTCATGAGC c.1320
| D T V S V H R P S F Y A E R F F K F M S p.440
. . | 12 . . . . g.61263
AACACGGTCTTTCGGAAGAACTCCT | CCCTGAAGTCCTCGCCCTCCAAGAAGGGGCGCGGC c.1380
N T V F R K N S S | L K S S P S K K G R G p.460
. . . . . . g.61323
GGAGCCTTGCTAGCTGTGAAACCGCTGGGGCCCACCGCTGCCTTCTCGGCCAGCCAGATC c.1440
G A L L A V K P L G P T A A F S A S Q I p.480
. . . . . . g.61383
CCTAGCGAGCGGGAGGAGGCCCAGTACGACCTGCGGGGGGCCCGCAGCTACCCCACGCTG c.1500
P S E R E E A Q Y D L R G A R S Y P T L p.500
. | 13 . . . . . g.62148
GAGGACGAAG | GCCGGCCCGACCTCCTGCCCTGCACGCCACCTTCTTTCGAAGAAGCCACT c.1560
E D E G | R P D L L P C T P P S F E E A T p.520
. . . . . . g.62208
ACAGCCTCCATTGCCACGACTCTGTCATCCACATCCCTCTCCATTCCTGAGCGGTCCCCC c.1620
T A S I A T T L S S T S L S I P E R S P p.540
. . | 14 . . . g.62571
TCGGAGACGTCGGAGCAGCCGCGGTACAG | GCGGCGCACACAGTCGTCTGGACAGGATGGC c.1680
S E T S E Q P R Y R | R R T Q S S G Q D G p.560
| 15 . . . . . . g.63728
AG | GCCGCAGGAGGAGCCACCCGCGGAAGAGGATCTGCAGCAGATTACAGTGCAGGTGGAG c.1740
R | P Q E E P P A E E D L Q Q I T V Q V E p.580
. . . . | 16. . g.66476
CCTGCGTGCAGCGTGGAGATTGTGGTCCCCAAAGAGGAGGACGCAGG | GGTGGAGGCTTCC c.1800
P A C S V E I V V P K E E D A G | V E A S p.600
. . . . . . g.66536
CCGGCCGGTGCCTCTGCTGCTGTTGAAGTAGAAACTGCCAGCCAGGCCTCAGACGAGGAG c.1860
P A G A S A A V E V E T A S Q A S D E E p.620
. . . . . . g.66596
GGCGCACCTGCCAGCCAGGCCTCGGACGAGGAGGACGCGCCCGCCACCGACATCTACTTT c.1920
G A P A S Q A S D E E D A P A T D I Y F p.640
| 17 . . . . . . g.72019
| CCCACCGATGAGAGGAGCTGGGTGTACTCCCCGCTCCACTATAGCGCCCAGGCCCCCCCG c.1980
| P T D E R S W V Y S P L H Y S A Q A P P p.660
. . | 18 g.72346
GCCTCCGACGGCGAGAGCGACACA | TAA c.2007
A S D G E S D T | X p.668
. . . . . . g.72406
tttctatgcagcccccgacccagagccgagctccacttctgctccggctgcccccgaagg c.*60
. . . . . . g.72466
cgctgcccaccccgctgaggcccagagctcgggagatgcccgcctcgccgccccaccgga c.*120
. . . . . . g.72526
cctcgtcctccccctgcacggatgccgacggccgggcccctccccgacaagcctcccagg c.*180
. . . . . . g.72586
gccccggcaccccggtcggcagcctgcccctgtgagacccaccctcccgagcggccaatc c.*240
. . . . . . g.72646
gcatttgagtccttatttggcacagagacggaagcacgtgtgtgccgttttaggaaaaga c.*300
. . . . . . g.72706
acaaaaaagacacaaacaaaccaaccagagggagaagagcccctgcccactgcactcttt c.*360
. . . . . . g.72766
ggttctctgctgtgcctgcctgtgtcctgaggaagaagccaggctgttcgcggtggcctc c.*420
. . . . . . g.72826
tggggacctgagccccgggggccccatcggcctgcagaggggacggctggggtcccgagc c.*480
. . . . . . g.72886
aactctgcctccatccacgtgggaagcggaccctcctgccctcagcttgggtttgggggc c.*540
. . . . . . g.72946
ctcagtgcaggacatctggcctgaacatcgactgtggggacagccctcgccctgccaagc c.*600
. . . . . . g.73006
actgcggccactcagcagctatgttcccgccgcagtggggccctgacgcccacctcccag c.*660
. . . . . . g.73066
gtgcccctcgagcaaaaacctctggcgcctccaatccagacccaccacagctggagggcc c.*720
. . . . . . g.73126
aggcctcctcttccccaggctgccacccacgctggcggagctcagggctggggacttgtc c.*780
. . . . . . g.73186
cttctcttccaacgtaggccactcagcaactggcatggagggcccaggcaacggagacgt c.*840
. . . . . . g.73246
tttctccatggcaggacagagcgggaggccgggccttgggccacaggagaccagctcagg c.*900
. . . . . . g.73306
gcggaaggtcaggctccccgccccctccacgtggagacatggcctagggggccaggcccg c.*960
. . . . . . g.73366
gctccacaggagtctccttcaggactggtgtggatgtccgccgcctctttcttgtttaag c.*1020
. . . . . . g.73426
tgatgtgatgtctccgaggaggggagagaagactttgtttccgactcatcaccctccaag c.*1080
. . . . . . g.73486
agggcagcgctcccagtggtgggactcagcccagactgccctggggcagcttcctgggcc c.*1140
. . . . . . g.73546
cgctgcgctcagagggtgctggttggaggccagagctcggcagagtcacccaccctgccc c.*1200
. . . . . . g.73606
ttccccaggacccctgagaggggcttattggtgatggctgtgggaatcccccacttccaa c.*1260
. . . . . . g.73666
gatgtgcccaggatgtgaggagctggagtggaagctgcacctttgggaagaattcctctc c.*1320
. . . . . . g.73726
cagacctggcagagcctggtgtggggtctgagacggccggagaacctcccaggcagggct c.*1380
. . . . . . g.73786
ctgtgttttgtctgttacaacctccgtatgacgccacgccacccgctgttcacgtcccgt c.*1440
. . . . . . g.73846
cggcctcctgcacagcccacacgctgcgcccggaaggcccctgctgtggagaagccggac c.*1500
. . . . . . g.73906
ccatccccgaggtccccagcgaggacacacactccacgagagcagcccctccactctgcc c.*1560
. . . . . . g.73966
caggagaggggccgaccctcctcgggaaccggccagccgcgtggctcccagcatccatca c.*1620
. . . . . . g.74026
ggacaagcccacgtggggtcctccctgcgtgctcagagggtctgtccagccctgggaagc c.*1680
. . . . . . g.74086
gaccttggcctcagttcacagcctggtgctcatctgctggcaccgggcatccacccatca c.*1740
. . . . . . g.74146
gcccccgccctgtccctccgaaggacacccagcaggcaccccccggggaggcaggggcag c.*1800
. . . . . . g.74206
aggtcagaaggggtgtctgggacctggatggccagcagggacaggggcattgtcatctca c.*1860
. . . . . . g.74266
aaggcccaacccccagaggccacaccagtcctcccagggagtcctcgagtcgccctgccc c.*1920
. . . . . . g.74326
agagccctggcaccagagacgccaagagcctgtggggtgactcggagcagcaggtgtggc c.*1980
. . . . . . g.74386
cccgggcgggcggcaccgcgtccagggcagcctccctccgctgagtgacacgggacacca c.*2040
. . . . . . g.74446
gtgcccggccgacgcgcctttgcaggagaaatgtgcaaacctctgtggataccatttcat c.*2100
. . . . . . g.74506
ttccattcttgtgttgtctccaaggcccttttggagatatacttggtgttggttgtgttt c.*2160
. . . . . . g.74566
tttggttccttttcagagaactgtaaaccgaggctgacgtgctccactgactgtgccgag c.*2220
. . . . . . g.74626
gggcgggggcaggaggacggcaagacctatttataatatttagcgaactcggtctccctc c.*2280
. . . . . . g.74686
agatcccccgcgagggaggctgctggacccaccccgctgtcccccatgatagaagtctgt c.*2340
. . . . . . g.74746
aaataccttggtgaccaatgcccacttcccctcctgggtcacctctgatggctgctgtcc c.*2400
. . . . . . g.74806
actgagaacgtgggcagtgtccaaattcctgtactgtaaagactaaaaggcgtttgctct c.*2460
. . . . . . g.74866
gagactgacaaggcggaaacttccatgtgtctcctgccaggctctgtccccctacgccat c.*2520
. . . . . . g.74926
cccgacacgtccccgttcccccgaaacctggctcagtgcaatactcccattgccatgggg c.*2580
. . . . . . g.74986
tccttcaccatggtactgtctccacagccctcagtccccaccccaggagaggcgcctgcc c.*2640
. . . . . . g.75046
acctcctcctcatctccggtggttcaatcgctccgcctgtccccaacccagtcccatttt c.*2700
. . . . . . g.75106
tatggccaaactgattctgaaacaaaatgaaactgcaaacctcgtgtgtcttaactcccc c.*2760
. . . . . . g.75166
ccagggatgccactccattcctccgccccgtggtctggtgcgtgacaatccaaagcgccg c.*2820
. . . . . . g.75226
agacgagggtgctgtgtccctcaaacccagagtggtgggcgcctctgaaaccatacagcc c.*2880
. . . . . . g.75286
actcctggccccaaacactggtttgcatcccaggttcctcgcccacctacccccgccaca c.*2940
. . . . g.75332
ccccgtctttttagagatctctctaataaatcgggtaataagcatc c.*2986
(downstream sequence)
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