(used for variant description)
(last modified December 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_033500.2 in the HK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012077.1, covering HK1 transcript NM_033500.2.
(upstream sequence)
. g.5019
aaaacatctatcttgctgt c.-481
. . . . . . g.5079
gtttggacaggccagcccctgaaacatcttgggcaatggagggttaacttctcaaagttt c.-421
. . . | 02 . . g.17559
aataggcaagaccagcaaccatgcaacaag | gacttcaactaaccaactaaagaactgttc c.-361
. . . . . . g.17619
cccagagcattgttcctgagaaggaaaagagtccaaacacctacccacacctgctttgtg c.-301
. . . . . . g.17679
ccaagaatccacagttggattgcaaggacagtgtatgttgtccttttggaaaaatgagag c.-241
. . . | 03 . . . g.23705
tgagcccaaatgaagaacaagcaaag | gcgttcaagacccagctgttgagagtagaaaagc c.-181
. . . . . . g.23765
agaagaaaggacccgaggtcagcaagtgccctccccacaatggggcagatctgccagcga c.-121
. | 04 . . . . . | 05 g.35775
gaatcg | gctacagcagctgaaaaaccaaaacttcatctacttgctgaaagtgag | cattgt c.-61
. . . . . . g.35835
tgatgctcttgagagcatcagccaggacattaatgtgcaccactgtggtggcgtggaaag c.-1
. . | 06. . . . g.78860
ATGGCAAAAAGAGCCCTGCATGATTTT | ATTGACAAGTATCTCTATGCCATGCGGCTCTCC c.60
M A K R A L H D F | I D K Y L Y A M R L S p.20
. . . . . . g.78920
GATGAAACTCTCATAGATATCATGACTCGCTTCAGGAAGGAGATGAAGAATGGCCTCTCC c.120
D E T L I D I M T R F R K E M K N G L S p.40
. . . . . . g.78980
CGGGATTTTAATCCAACAGCCACAGTCAAGATGTTGCCAACATTCGTAAGGTCCATTCCT c.180
R D F N P T A T V K M L P T F V R S I P p.60
. | 07 . . . . . g.94947
GATGGCTCTG | AAAAGGGAGATTTCATTGCCCTGGATCTTGGTGGGTCTTCCTTTCGAATT c.240
D G S E | K G D F I A L D L G G S S F R I p.80
. . . . . . g.95007
CTGCGGGTGCAAGTGAATCATGAGAAAAACCAGAATGTTCACATGGAGTCCGAGGTTTAT c.300
L R V Q V N H E K N Q N V H M E S E V Y p.100
. . . | 08 . . g.99804
GACACCCCAGAGAACATCGTGCACGGCAGTGGAAGCCAG | CTTTTTGATCATGTTGCTGAG c.360
D T P E N I V H G S G S Q | L F D H V A E p.120
. . . . . . g.99864
TGCCTGGGAGATTTCATGGAGAAAAGGAAGATCAAGGACAAGAAGTTACCTGTGGGATTC c.420
C L G D F M E K R K I K D K K L P V G F p.140
. . . | 09 . . g.103557
ACGTTTTCTTTTCCTTGCCAACAATCCAAAATAGATGAG | GCCATCCTGATCACCTGGACA c.480
T F S F P C Q Q S K I D E | A I L I T W T p.160
. . . . . . g.103617
AAGCGATTTAAAGCGAGCGGAGTGGAAGGAGCAGATGTGGTCAAACTGCTTAACAAAGCC c.540
K R F K A S G V E G A D V V K L L N K A p.180
. | 10 . . . . . g.104282
ATCAAAAAGCGAGGG | GACTATGATGCCAACATCGTAGCTGTGGTGAATGACACAGTGGGC c.600
I K K R G | D Y D A N I V A V V N D T V G p.200
. . . . . | 11 . g.104446
ACCATGATGACCTGTGGCTATGACGACCAGCACTGTGAAGTCGGCCTGATCATCG | GCACT c.660
T M M T C G Y D D Q H C E V G L I I G | T p.220
. . . . . . g.104506
GGCACCAATGCTTGCTACATGGAGGAACTGAGGCACATTGATCTGGTGGAAGGAGACGAG c.720
G T N A C Y M E E L R H I D L V E G D E p.240
. . . . . . g.104566
GGGAGGATGTGTATCAATACAGAATGGGGAGCCTTTGGAGACGATGGATCATTAGAAGAC c.780
G R M C I N T E W G A F G D D G S L E D p.260
. . . . . | 12 g.111935
ATCCGGACAGAGTTTGACAGGGAGATAGACCGGGGATCCCTCAACCCTGGAAAACAGCT | G c.840
I R T E F D R E I D R G S L N P G K Q L | p.280
. . . . . . g.111995
TTTGAGAAGATGGTCAGTGGCATGTACTTGGGAGAGCTGGTTCGACTGATCCTAGTCAAG c.900
F E K M V S G M Y L G E L V R L I L V K p.300
. . . . . . g.112055
ATGGCCAAGGAGGGCCTCTTATTTGAAGGGCGGATCACCCCGGAGCTGCTCACCCGAGGG c.960
M A K E G L L F E G R I T P E L L T R G p.320
. . . | 13 . . . g.114887
AAGTTTAACACCAGTGATGTGTCAGCCATCGAAAA | GAATAAGGAAGGCCTCCACAATGCC c.1020
K F N T S D V S A I E K | N K E G L H N A p.340
. . . . . . g.114947
AAAGAAATCCTGACCCGCCTGGGAGTGGAGCCGTCCGATGATGACTGTGTCTCAGTCCAG c.1080
K E I L T R L G V E P S D D D C V S V Q p.360
. . . . . . g.115007
CACGTTTGCACCATTGTCTCATTTCGCTCAGCCAACTTGGTGGCTGCCACACTGGGCGCC c.1140
H V C T I V S F R S A N L V A A T L G A p.380
. . . . . . g.115067
ATCTTGAACCGCCTGCGTGATAACAAGGGCACACCCAGGCTGCGGACCACGGTTGGTGTC c.1200
I L N R L R D N K G T P R L R T T V G V p.400
. . | 14 . . . g.117518
GACGGATCTCTTTACAAGACGCACCCACA | GTATTCCCGGCGTTTCCACAAGACTCTAAGG c.1260
D G S L Y K T H P Q | Y S R R F H K T L R p.420
. . . . . . g.117578
CGCTTGGTGCCAGACTCCGATGTGCGCTTCCTCCTCTCGGAGAGTGGCAGCGGCAAGGGG c.1320
R L V P D S D V R F L L S E S G S G K G p.440
. . . . . . g.117638
GCTGCCATGGTGACGGCGGTGGCCTACCGCTTGGCCGAGCAGCACCGGCAGATAGAGGAG c.1380
A A M V T A V A Y R L A E Q H R Q I E E p.460
. . . . . . g.117698
ACCCTGGCTCATTTCCACCTCACCAAGGACATGCTGCTGGAGGTGAAGAAGAGGATGCGG c.1440
T L A H F H L T K D M L L E V K K R M R p.480
. . . . . . g.117758
GCCGAGATGGAGCTGGGGCTGAGGAAGCAGACGCACAACAATGCCGTGGTTAAGATGCTG c.1500
A E M E L G L R K Q T H N N A V V K M L p.500
. . . | 15 . . . g.119359
CCCTCCTTCGTCCGGAGAACTCCCGACGGGACCG | AGAATGGTGACTTCTTGGCCCTGGAT c.1560
P S F V R R T P D G T E | N G D F L A L D p.520
. . . . . . g.119419
CTTGGAGGAACCAATTTCCGTGTGCTGCTGGTGAAAATCCGTAGTGGGAAAAAGAGAACG c.1620
L G G T N F R V L L V K I R S G K K R T p.540
. . . . . . g.119479
GTGGAAATGCACAACAAGATCTACGCCATTCCTATTGAAATCATGCAGGGCACTGGGGAA c.1680
V E M H N K I Y A I P I E I M Q G T G E p.560
| 16 . . . . . . g.119853
GAG | CTGTTTGATCACATTGTCTCCTGCATCTCTGACTTCTTGGACTACATGGGGATCAAA c.1740
E | L F D H I V S C I S D F L D Y M G I K p.580
. . . . . . g.119913
GGCCCCAGGATGCCTCTGGGCTTCACGTTCTCATTTCCCTGCCAGCAGACGAGTCTGGAC c.1800
G P R M P L G F T F S F P C Q Q T S L D p.600
| 17 . . . . . . g.121380
GCG | GGAATCTTGATCACGTGGACAAAGGGTTTTAAGGCAACAGACTGCGTGGGCCACGAT c.1860
A | G I L I T W T K G F K A T D C V G H D p.620
. . . | 18 . . g.124218
GTAGTCACCTTACTAAGGGATGCGATAAAAAGGAGAGAG | GAATTTGACCTGGACGTGGTG c.1920
V V T L L R D A I K R R E | E F D L D V V p.640
. . . . . . g.124278
GCTGTGGTCAACGACACAGTGGGCACCATGATGACCTGTGCTTATGAGGAGCCCACCTGT c.1980
A V V N D T V G T M M T C A Y E E P T C p.660
. | 19 . . . . g.127166
GAGGTTGGACTCATTGTTG | GGACCGGCAGCAATGCCTGCTACATGGAGGAGATGAAGAAC c.2040
E V G L I V G | T G S N A C Y M E E M K N p.680
. . . . . . g.127226
GTGGAGATGGTGGAGGGGGACCAGGGGCAGATGTGCATCAACATGGAGTGGGGGGCCTTT c.2100
V E M V E G D Q G Q M C I N M E W G A F p.700
. . . . . . g.127286
GGGGACAACGGGTGTCTGGATGATATCAGGACACACTACGACAGACTGGTGGACGAATAT c.2160
G D N G C L D D I R T H Y D R L V D E Y p.720
. . | 20 . . . . g.129987
TCCCTAAATGCTGGGAAACAAAG | GTATGAGAAGATGATCAGTGGTATGTACCTGGGTGAA c.2220
S L N A G K Q R | Y E K M I S G M Y L G E p.740
. . . . . . g.130047
ATCGTCCGCAACATCTTAATCGACTTCACCAAGAAGGGATTCCTCTTCCGAGGGCAGATC c.2280
I V R N I L I D F T K K G F L F R G Q I p.760
. . . . . | 21 g.133596
TCTGAGACGCTGAAGACCCGGGGCATCTTTGAGACCAAGTTTCTCTCTCAGATCGAGAG | T c.2340
S E T L K T R G I F E T K F L S Q I E S | p.780
. . . . . . g.133656
GACCGATTAGCACTGCTCCAGGTCCGGGCTATCCTCCAGCAGCTAGGTCTGAATAGCACC c.2400
D R L A L L Q V R A I L Q Q L G L N S T p.800
. . . . . . g.133716
TGCGATGACAGTATCCTCGTCAAGACAGTGTGCGGGGTGGTGTCCAGGAGGGCCGCACAG c.2460
C D D S I L V K T V C G V V S R R A A Q p.820
. . . . . . g.133776
CTGTGTGGCGCAGGCATGGCTGCGGTTGTGGATAAGATCCGCGAGAACAGAGGACTGGAC c.2520
L C G A G M A A V V D K I R E N R G L D p.840
. . . . . | 22 . g.135998
CGTCTGAATGTGACTGTGGGAGTGGACGGGACACTCTACAAGCTTCATCCACA | CTTCTCC c.2580
R L N V T V G V D G T L Y K L H P H | F S p.860
. . . . . . g.136058
AGAATCATGCACCAGACGGTGAAGGAACTGTCACCAAAATGTAACGTGTCCTTCCTCCTG c.2640
R I M H Q T V K E L S P K C N V S F L L p.880
. . . . . . g.136118
TCTGAGGATGGCAGCGGCAAGGGGGCCGCCCTCATCACGGCCGTGGGCGTGCGGTTACGC c.2700
S E D G S G K G A A L I T A V G V R L R p.900
. g.136136
ACAGAGGCAAGCAGCTAA c.2718
T E A S S X p.905
. . . . . . g.136196
gagtccgggatccccagcctactgcctctccagcacttctctcttcaagcggcgaccccc c.*60
. . . . . . g.136256
taccctcccagcgagttgcgctgggagacgctggcgccagggcctgccggcgcggggagg c.*120
. . . . . . g.136316
aaagcaaaatccaactaatggtatatattgtagggtacagaatagagcgtgtgctgttga c.*180
. . . . . . g.136376
taatatctctcacccggatccctcctcacttgccctgccactttgcatggtttgattttg c.*240
. . . . . . g.136436
acctggtcccccacgtgtgaagtgtagtggcatccatttctaatgtatgcattcatccaa c.*300
. . . . . . g.136496
cagagttatttattggctggagatggaaaatcacaccacctgacaggccttctgggcctc c.*360
. . . . . . g.136556
caaagcccatccttggggttccccctccctgtgtgaaatgtattatcaccagcagacact c.*420
. . . . . . g.136616
gccgggcctccctcccgggggcactgcctgaaggcgagtgtgggcatagcattagctgct c.*480
. . . . . . g.136676
tcctcccctcctggcacccactgtggcctggcatcgcatcgtggtgtgtcaatgccacaa c.*540
. . . . . . g.136736
aatcgtgtgtccgtggaaccagtcctagccgcgtgtgacagtcttgcattctgtttgtct c.*600
. . . . . . g.136796
cgtggggggaggtggacagtcctgcggaaatgtgtcttgtctccatttggataaaaggaa c.*660
. . . . . . g.136856
ccaaccaacaaacaatgccatcactggaatttcccaccgctttgtgagccgtgtcgtatg c.*720
. . g.136883
acctagtaaactttgtaccaattcaaa c.*747
(downstream sequence)
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