(used for variant description)
(last modified January 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002591.3 in the PCK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008205.1, covering PCK1 transcript NM_002591.3.
(upstream sequence)
. . . . g.5043
tttaaagctgggaggttctgccaccaagcacggccttcccact c.-121
. . . . . . g.5103
gggaacacaaacttgctggcgggaagagcccggaaagaaacctgtggatctcccttcgag c.-61
. . | 02 . . . g.5331
atcatccaaagagaagaaag | gtgacctcacattcgtgccccttagcagcactctgcagaa c.-1
. . . . . . g.5391
ATGCCTCCTCAGCTGCAAAACGGCCTGAACCTCTCGGCCAAAGTTGTCCAGGGAAGCCTG c.60
M P P Q L Q N G L N L S A K V V Q G S L p.20
. . . . . . g.5451
GACAGCCTACCCCAGGCAGTGAGGGAGTTTCTCGAGAATAACGCTGAGCTGTGTCAGCCT c.120
D S L P Q A V R E F L E N N A E L C Q P p.40
. . . . . . g.5511
GATCACATCCACATCTGTGACGGCTCTGAGGAGGAGAATGGGCGGCTTCTGGGCCAGATG c.180
D H I H I C D G S E E E N G R L L G Q M p.60
. . . . | 03 . . g.6006
GAGGAAGAGGGCATCCTCAGGCGGCTGAAGAAGTATGACAACTG | CTGGTTGGCTCTCACT c.240
E E E G I L R R L K K Y D N C | W L A L T p.80
. . . . . . g.6066
GACCCCAGGGATGTGGCCAGGATCGAAAGCAAGACGGTTATCGTCACCCAAGAGCAAAGA c.300
D P R D V A R I E S K T V I V T Q E Q R p.100
. . . . . . g.6126
GACACAGTGCCCATCCCCAAAACAGGCCTCAGCCAGCTCGGTCGCTGGATGTCAGAGGAG c.360
D T V P I P K T G L S Q L G R W M S E E p.120
. . . . | 04 . . g.6629
GATTTTGAGAAAGCGTTCAATGCCAGGTTCCCAGGGTGCATGAAAG | GTCGCACCATGTAC c.420
D F E K A F N A R F P G C M K G | R T M Y p.140
. . . . . . g.6689
GTCATCCCATTCAGCATGGGGCCGCTGGGCTCGCCTCTGTCAAAGATCGGCATCGAGCTG c.480
V I P F S M G P L G S P L S K I G I E L p.160
. . . . . . g.6749
ACGGATTCACCCTACGTGGTGGCCAGCATGCGGATCATGACGCGGATGGGCACGCCCGTC c.540
T D S P Y V V A S M R I M T R M G T P V p.180
. . . . . . g.6809
CTGGAAGCAGTGGGCGATGGGGAGTTTGTCAAATGCCTCCATTCTGTGGGGTGCCCTCTG c.600
L E A V G D G E F V K C L H S V G C P L p.200
. | 05 . . . . . g.6997
CCTTTACAAA | AGCCTTTGGTCAACAACTGGCCCTGCAACCCGGAGCTGACGCTCATCGCC c.660
P L Q K | P L V N N W P C N P E L T L I A p.220
. . . . . . g.7057
CACCTGCCTGACCGCAGAGAGATCATCTCCTTTGGCAGTGGGTACGGCGGGAACTCGCTG c.720
H L P D R R E I I S F G S G Y G G N S L p.240
. . . . . . g.7117
CTCGGGAAGAAGTGCTTTGCTCTCAGGATGGCCAGCCGGCTGGCCAAGGAGGAAGGGTGG c.780
L G K K C F A L R M A S R L A K E E G W p.260
. | 06 . . . . g.7526
CTGGCAGAGCACATGCTG | ATTCTGGGTATAACCAACCCTGAGGGTGAGAAGAAGTACCTG c.840
L A E H M L | I L G I T N P E G E K K Y L p.280
. . . . . . g.7586
GCGGCCGCATTTCCCAGCGCCTGCGGGAAGACCAACCTGGCCATGATGAACCCCAGCCTC c.900
A A A F P S A C G K T N L A M M N P S L p.300
. . . . . . g.7646
CCCGGGTGGAAGGTTGAGTGCGTCGGGGATGACATTGCCTGGATGAAGTTTGACGCACAA c.960
P G W K V E C V G D D I A W M K F D A Q p.320
| 07 . . . . . . g.8147
G | GTCATTTAAGGGCCATCAACCCAGAAAATGGCTTTTTCGGTGTCGCTCCTGGGACTTCA c.1020
G | H L R A I N P E N G F F G V A P G T S p.340
. . . . . . g.8207
GTGAAGACCAACCCCAATGCCATCAAGACCATCCAGAAGAACACAATCTTTACCAATGTG c.1080
V K T N P N A I K T I Q K N T I F T N V p.360
. . . . . . g.8267
GCCGAGACCAGCGACGGGGGCGTTTACTGGGAAGGCATTGATGAGCCGCTAGCTTCAGGT c.1140
A E T S D G G V Y W E G I D E P L A S G p.380
. . . . | 08 . . g.8415
GTCACCATCACGTCCTGGAAGAATAAGGAGTGGAGCTCAGAGGATG | GGGAACCTTGTGCC c.1200
V T I T S W K N K E W S S E D G | E P C A p.400
. . . . . . g.8475
CACCCCAACTCGAGGTTCTGCACCCCTGCCAGCCAGTGCCCCATCATTGATGCTGCCTGG c.1260
H P N S R F C T P A S Q C P I I D A A W p.420
. . . . . | 09 g.8961
GAGTCTCCGGAAGGTGTTCCCATTGAAGGCATTATCTTTGGAGGCCGTAGACCTGCTG | GT c.1320
E S P E G V P I E G I I F G G R R P A G | p.440
. . . . . . g.9021
GTCCCTCTAGTCTATGAAGCTCTCAGCTGGCAACATGGAGTCTTTGTGGGGGCGGCCATG c.1380
V P L V Y E A L S W Q H G V F V G A A M p.460
. . . | 10 . . . g.9295
AGATCAGAGGCCACAGCGGCTGCAGAACATAAAG | GCAAAATCATCATGCATGACCCCTTT c.1440
R S E A T A A A E H K G | K I I M H D P F p.480
. . . . . . g.9355
GCCATGCGGCCCTTCTTTGGCTACAACTTCGGCAAATACCTGGCCCACTGGCTTAGCATG c.1500
A M R P F F G Y N F G K Y L A H W L S M p.500
. . . . . . g.9415
GCCCAGCACCCAGCAGCCAAACTGCCCAAGATCTTCCATGTCAACTGGTTCCGGAAGGAC c.1560
A Q H P A A K L P K I F H V N W F R K D p.520
. . . . . . g.9475
AAGGAAGGCAAATTCCTCTGGCCAGGCTTTGGAGAGAACTCCAGGGTGCTGGAGTGGATG c.1620
K E G K F L W P G F G E N S R V L E W M p.540
. . . . . . g.9535
TTCAACCGGATCGATGGAAAAGCCAGCACCAAGCTCACGCCCATAGGCTACATCCCCAAG c.1680
F N R I D G K A S T K L T P I G Y I P K p.560
. . . . . . g.9595
GAGGATGCCCTGAACCTGAAAGGCCTGGGGCACATCAACATGATGGAGCTTTTCAGCATC c.1740
E D A L N L K G L G H I N M M E L F S I p.580
. . . . . . g.9655
TCCAAGGAATTCTGGGAGAAGGAGGTGGAAGACATCGAGAAGTATCTGGAGGATCAAGTC c.1800
S K E F W E K E V E D I E K Y L E D Q V p.600
. . . . . . g.9715
AATGCCGACCTCCCCTGTGAAATCGAGAGAGAGATCCTTGCCTTGAAGCAAAGAATAAGC c.1860
N A D L P C E I E R E I L A L K Q R I S p.620
g.9724
CAGATGTAA c.1869
Q M X p.622
. . . . . . g.9784
tcagggcctgagtgctttacctttaaaatcattccctttcccatccataaggtgcagtag c.*60
. . . . . . g.9844
gagcaagagagggcaagtgttcccaaattgacgccaccataataatcatcaccacaccgt c.*120
. . . . . . g.9904
gagcagatctgaaaggcacactttgatttttttaaggataagaaccacagaacactgggt c.*180
. . . . . . g.9964
agtagctaatgaaattgagaagggaaatcttagcatgcctccaaaaattcacatccaatg c.*240
. . . . . . g.10024
catagtttgttcaaatttaaggttactcaggcattgatcttttcagtgttttttcacttt c.*300
. . . . . . g.10084
agctatgtggattagctagaatgcacaccaaaaaaatacttgagctgtatatatatatgt c.*360
. . . . . . g.10144
gtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgcatgtatgtgcacatgtgtctgtgtgg c.*420
. . . . . . g.10204
tatatttgtgtatgtgtatttgtatgtactgttattgaaaatatatttaatacctttgga c.*480
. . . . . . g.10264
aaaatcttgggcaagatgacctactagttttccttgaaaaaaagttgctttgttattaat c.*540
. . . . . . g.10324
attgtgcttaaattatttttatacaccattgttccttacctttacataattgcaatattt c.*600
. . . . . g.10377
cccccttactacttcttggaaaaaaattacaaaatgaagttttatagaaaaga c.*653
(downstream sequence)
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