(used for variant description)
(last modified December 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000188.2 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_000188.2.
(upstream sequence)
. . . . g.53888
gaggaggagccgccgagcagccgccggaggaccacggctcg c.-61
. . . . . . g.53948
ccagggctgcggaggaccgaccgtccccacgcctgccgccccgcgaccccgaccgccagc c.-1
. . . . . . g.54008
ATGATCGCCGCGCAGCTCCTGGCCTATTACTTCACGGAGCTGAAGGATGACCAGGTCAAA c.60
M I A A Q L L A Y Y F T E L K D D Q V K p.20
| 02 . . . . . . g.78884
AAG | ATTGACAAGTATCTCTATGCCATGCGGCTCTCCGATGAAACTCTCATAGATATCATG c.120
K | I D K Y L Y A M R L S D E T L I D I M p.40
. . . . . . g.78944
ACTCGCTTCAGGAAGGAGATGAAGAATGGCCTCTCCCGGGATTTTAATCCAACAGCCACA c.180
T R F R K E M K N G L S R D F N P T A T p.60
. . . . | 03 . . g.94911
GTCAAGATGTTGCCAACATTCGTAAGGTCCATTCCTGATGGCTCTG | AAAAGGGAGATTTC c.240
V K M L P T F V R S I P D G S E | K G D F p.80
. . . . . . g.94971
ATTGCCCTGGATCTTGGTGGGTCTTCCTTTCGAATTCTGCGGGTGCAAGTGAATCATGAG c.300
I A L D L G G S S F R I L R V Q V N H E p.100
. . . . . . g.95031
AAAAACCAGAATGTTCACATGGAGTCCGAGGTTTATGACACCCCAGAGAACATCGTGCAC c.360
K N Q N V H M E S E V Y D T P E N I V H p.120
. | 04 . . . . . g.99828
GGCAGTGGAAGCCAG | CTTTTTGATCATGTTGCTGAGTGCCTGGGAGATTTCATGGAGAAA c.420
G S G S Q | L F D H V A E C L G D F M E K p.140
. . . . . . g.99888
AGGAAGATCAAGGACAAGAAGTTACCTGTGGGATTCACGTTTTCTTTTCCTTGCCAACAA c.480
R K I K D K K L P V G F T F S F P C Q Q p.160
. | 05 . . . . . g.103581
TCCAAAATAGATGAG | GCCATCCTGATCACCTGGACAAAGCGATTTAAAGCGAGCGGAGTG c.540
S K I D E | A I L I T W T K R F K A S G V p.180
. . . . . | 06 . g.104246
GAAGGAGCAGATGTGGTCAAACTGCTTAACAAAGCCATCAAAAAGCGAGGG | GACTATGAT c.600
E G A D V V K L L N K A I K K R G | D Y D p.200
. . . . . . g.104306
GCCAACATCGTAGCTGTGGTGAATGACACAGTGGGCACCATGATGACCTGTGGCTATGAC c.660
A N I V A V V N D T V G T M M T C G Y D p.220
. . . | 07 . . . g.104470
GACCAGCACTGTGAAGTCGGCCTGATCATCG | GCACTGGCACCAATGCTTGCTACATGGAG c.720
D Q H C E V G L I I G | T G T N A C Y M E p.240
. . . . . . g.104530
GAACTGAGGCACATTGATCTGGTGGAAGGAGACGAGGGGAGGATGTGTATCAATACAGAA c.780
E L R H I D L V E G D E G R M C I N T E p.260
. . . . . . g.104590
TGGGGAGCCTTTGGAGACGATGGATCATTAGAAGACATCCGGACAGAGTTTGACAGGGAG c.840
W G A F G D D G S L E D I R T E F D R E p.280
. . . | 08 . . . g.111959
ATAGACCGGGGATCCCTCAACCCTGGAAAACAGCT | GTTTGAGAAGATGGTCAGTGGCATG c.900
I D R G S L N P G K Q L | F E K M V S G M p.300
. . . . . . g.112019
TACTTGGGAGAGCTGGTTCGACTGATCCTAGTCAAGATGGCCAAGGAGGGCCTCTTATTT c.960
Y L G E L V R L I L V K M A K E G L L F p.320
. . . . . . g.112079
GAAGGGCGGATCACCCCGGAGCTGCTCACCCGAGGGAAGTTTAACACCAGTGATGTGTCA c.1020
E G R I T P E L L T R G K F N T S D V S p.340
. | 09 . . . . . g.114911
GCCATCGAAAA | GAATAAGGAAGGCCTCCACAATGCCAAAGAAATCCTGACCCGCCTGGGA c.1080
A I E K | N K E G L H N A K E I L T R L G p.360
. . . . . . g.114971
GTGGAGCCGTCCGATGATGACTGTGTCTCAGTCCAGCACGTTTGCACCATTGTCTCATTT c.1140
V E P S D D D C V S V Q H V C T I V S F p.380
. . . . . . g.115031
CGCTCAGCCAACTTGGTGGCTGCCACACTGGGCGCCATCTTGAACCGCCTGCGTGATAAC c.1200
R S A N L V A A T L G A I L N R L R D N p.400
. . . . . . g.115091
AAGGGCACACCCAGGCTGCGGACCACGGTTGGTGTCGACGGATCTCTTTACAAGACGCAC c.1260
K G T P R L R T T V G V D G S L Y K T H p.420
| 10 . . . . . . g.117542
CCACA | GTATTCCCGGCGTTTCCACAAGACTCTAAGGCGCTTGGTGCCAGACTCCGATGTG c.1320
P Q | Y S R R F H K T L R R L V P D S D V p.440
. . . . . . g.117602
CGCTTCCTCCTCTCGGAGAGTGGCAGCGGCAAGGGGGCTGCCATGGTGACGGCGGTGGCC c.1380
R F L L S E S G S G K G A A M V T A V A p.460
. . . . . . g.117662
TACCGCTTGGCCGAGCAGCACCGGCAGATAGAGGAGACCCTGGCTCATTTCCACCTCACC c.1440
Y R L A E Q H R Q I E E T L A H F H L T p.480
. . . . . . g.117722
AAGGACATGCTGCTGGAGGTGAAGAAGAGGATGCGGGCCGAGATGGAGCTGGGGCTGAGG c.1500
K D M L L E V K K R M R A E M E L G L R p.500
. . . . . . g.117782
AAGCAGACGCACAACAATGCCGTGGTTAAGATGCTGCCCTCCTTCGTCCGGAGAACTCCC c.1560
K Q T H N N A V V K M L P S F V R R T P p.520
. | 11 . . . . . g.119383
GACGGGACCG | AGAATGGTGACTTCTTGGCCCTGGATCTTGGAGGAACCAATTTCCGTGTG c.1620
D G T E | N G D F L A L D L G G T N F R V p.540
. . . . . . g.119443
CTGCTGGTGAAAATCCGTAGTGGGAAAAAGAGAACGGTGGAAATGCACAACAAGATCTAC c.1680
L L V K I R S G K K R T V E M H N K I Y p.560
. . . | 12 . . g.119817
GCCATTCCTATTGAAATCATGCAGGGCACTGGGGAAGAG | CTGTTTGATCACATTGTCTCC c.1740
A I P I E I M Q G T G E E | L F D H I V S p.580
. . . . . . g.119877
TGCATCTCTGACTTCTTGGACTACATGGGGATCAAAGGCCCCAGGATGCCTCTGGGCTTC c.1800
C I S D F L D Y M G I K G P R M P L G F p.600
. . . | 13 . . g.121344
ACGTTCTCATTTCCCTGCCAGCAGACGAGTCTGGACGCG | GGAATCTTGATCACGTGGACA c.1860
T F S F P C Q Q T S L D A | G I L I T W T p.620
. . . . . . g.121404
AAGGGTTTTAAGGCAACAGACTGCGTGGGCCACGATGTAGTCACCTTACTAAGGGATGCG c.1920
K G F K A T D C V G H D V V T L L R D A p.640
. | 14 . . . . . g.124242
ATAAAAAGGAGAGAG | GAATTTGACCTGGACGTGGTGGCTGTGGTCAACGACACAGTGGGC c.1980
I K R R E | E F D L D V V A V V N D T V G p.660
. . . . . | 15 . g.127130
ACCATGATGACCTGTGCTTATGAGGAGCCCACCTGTGAGGTTGGACTCATTGTTG | GGACC c.2040
T M M T C A Y E E P T C E V G L I V G | T p.680
. . . . . . g.127190
GGCAGCAATGCCTGCTACATGGAGGAGATGAAGAACGTGGAGATGGTGGAGGGGGACCAG c.2100
G S N A C Y M E E M K N V E M V E G D Q p.700
. . . . . . g.127250
GGGCAGATGTGCATCAACATGGAGTGGGGGGCCTTTGGGGACAACGGGTGTCTGGATGAT c.2160
G Q M C I N M E W G A F G D N G C L D D p.720
. . . . . | 16 g.129951
ATCAGGACACACTACGACAGACTGGTGGACGAATATTCCCTAAATGCTGGGAAACAAAG | G c.2220
I R T H Y D R L V D E Y S L N A G K Q R | p.740
. . . . . . g.130011
TATGAGAAGATGATCAGTGGTATGTACCTGGGTGAAATCGTCCGCAACATCTTAATCGAC c.2280
Y E K M I S G M Y L G E I V R N I L I D p.760
. . . . . . g.130071
TTCACCAAGAAGGGATTCCTCTTCCGAGGGCAGATCTCTGAGACGCTGAAGACCCGGGGC c.2340
F T K K G F L F R G Q I S E T L K T R G p.780
. . . | 17 . . . g.133620
ATCTTTGAGACCAAGTTTCTCTCTCAGATCGAGAG | TGACCGATTAGCACTGCTCCAGGTC c.2400
I F E T K F L S Q I E S | D R L A L L Q V p.800
. . . . . . g.133680
CGGGCTATCCTCCAGCAGCTAGGTCTGAATAGCACCTGCGATGACAGTATCCTCGTCAAG c.2460
R A I L Q Q L G L N S T C D D S I L V K p.820
. . . . . . g.133740
ACAGTGTGCGGGGTGGTGTCCAGGAGGGCCGCACAGCTGTGTGGCGCAGGCATGGCTGCG c.2520
T V C G V V S R R A A Q L C G A G M A A p.840
. . . . . . g.133800
GTTGTGGATAAGATCCGCGAGAACAGAGGACTGGACCGTCTGAATGTGACTGTGGGAGTG c.2580
V V D K I R E N R G L D R L N V T V G V p.860
. . | 18 . . . g.136022
GACGGGACACTCTACAAGCTTCATCCACA | CTTCTCCAGAATCATGCACCAGACGGTGAAG c.2640
D G T L Y K L H P H | F S R I M H Q T V K p.880
. . . . . . g.136082
GAACTGTCACCAAAATGTAACGTGTCCTTCCTCCTGTCTGAGGATGGCAGCGGCAAGGGG c.2700
E L S P K C N V S F L L S E D G S G K G p.900
. . . . . g.136136
GCCGCCCTCATCACGGCCGTGGGCGTGCGGTTACGCACAGAGGCAAGCAGCTAA c.2754
A A L I T A V G V R L R T E A S S X p.917
. . . . . . 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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