(used for variant description)
(last modified November 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_002103.4 in the GYS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering GYS1 transcript NM_002103.4.
(upstream sequence)
g.5001
t c.-241
. . . . . . g.5061
cctggcggctgcgaggtttcactgcaggggcgccagtgggctcagtgacgctgcggcctc c.-181
. . . . . . g.5121
cttctgcctaggtcccaacgcttcggggcaggggtgcggtcttgcaataggaagccgagc c.-121
. . . . . . g.5181
gtcttgcaagcttcccgtcgggcaccagctactcggccccgcaccctacctggtgcattc c.-61
. . . . . . g.5241
cctagacacctccggggtccctacctggagatccccggagccccccttcctgcgccagcc c.-1
. . . . . . g.5301
ATGCCTTTAAACCGCACTTTGTCCATGTCCTCACTGCCAGGACTGGAGGACTGGGAGGAT c.60
M P L N R T L S M S S L P G L E D W E D p.20
. . . . . | 02 g.6872
GAATTCGACCTGGAGAACGCAGTGCTCTTCGAAGTGGCCTGGGAGGTGGCTAACAAGG | TG c.120
E F D L E N A V L F E V A W E V A N K V | p.40
. . . . . . g.6932
GGTGGCATCTACACGGTGCTGCAGACGAAGGCGAAGGTGACAGGGGACGAATGGGGCGAC c.180
G G I Y T V L Q T K A K V T G D E W G D p.60
. . . . . . g.6992
AACTACTTCCTGGTGGGGCCGTACACGGAGCAGGGCGTGAGGACCCAGGTGGAACTGCTG c.240
N Y F L V G P Y T E Q G V R T Q V E L L p.80
. . . . . . g.7052
GAGGCCCCCACCCCGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAG c.300
E A P T P A L K R T L D S M N S K G C K p.100
| 03 . . . . . . g.11028
| GTGTATTTCGGGCGCTGGCTGATCGAGGGAGGCCCTCTGGTGGTGCTCCTGGACGTGGGT c.360
| V Y F G R W L I E G G P L V V L L D V G p.120
. . . . . . g.11088
GCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGGA c.420
A S A W A L E R W K G E L W D T C N I G p.140
. . . . . . g.11148
GTGCCGTGGTACGACCGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGG c.480
V P W Y D R E A N D A V L F G F L T T W p.160
. | 04 . . . . . g.12366
TTCCTGGGTGAG | TTCCTGGCACAGAGTGAGGAGAAGCCACATGTGGTTGCTCACTTCCAT c.540
F L G E | F L A Q S E E K P H V V A H F H p.180
. . . . . . g.12426
GAGTGGTTGGCAGGCGTTGGACTCTGCCTGTGTCGTGCCCGGCGACTGCCTGTAGCAACC c.600
E W L A G V G L C L C R A R R L P V A T p.200
. . . . . . g.12486
ATCTTCACCACCCATGCCACGCTGCTGGGGCGCTACCTGTGTGCCGGTGCCGTGGACTTC c.660
I F T T H A T L L G R Y L C A G A V D F p.220
. | 05 . . . . g.12790
TACAACAACCTGGAGAAC | TTCAACGTGGACAAGGAAGCAGGGGAGAGGCAGATCTACCAC c.720
Y N N L E N | F N V D K E A G E R Q I Y H p.240
. . . . . . g.12850
CGATACTGCATGGAAAGGGCGGCAGCCCACTGCGCTCACGTCTTCACTACTGTGTCCCAG c.780
R Y C M E R A A A H C A H V F T T V S Q p.260
. . . . | 06 . . g.15533
ATCACCGCCATCGAGGCACAGCACTTGCTCAAGAGGAAACCAG | ATATTGTGACCCCCAAT c.840
I T A I E A Q H L L K R K P D | I V T P N p.280
. . . . . . g.15593
GGGCTGAATGTGAAGAAGTTTTCTGCCATGCATGAGTTCCAGAACCTCCATGCTCAGAGC c.900
G L N V K K F S A M H E F Q N L H A Q S p.300
. . . . | 07 . . g.15997
AAGGCTCGAATCCAGGAGTTTGTGCGGGGCCATTTTTATGG | GCATCTGGACTTCAACTTG c.960
K A R I Q E F V R G H F Y G | H L D F N L p.320
. . . . . . g.16057
GACAAGACCTTATACTTCTTTATCGCCGGCCGCTATGAGTTCTCCAACAAGGGTGCTGAC c.1020
D K T L Y F F I A G R Y E F S N K G A D p.340
. . . . | 08 . . g.16735
GTCTTCCTGGAGGCATTGGCTCGGCTCAACTATCTGCTCAGA | GTGAACGGCAGCGAGCAG c.1080
V F L E A L A R L N Y L L R | V N G S E Q p.360
. . . . . . g.16795
ACAGTGGTTGCCTTCTTCATCATGCCAGCGCGGACCAACAATTTCAACGTGGAAACCCTC c.1140
T V V A F F I M P A R T N N F N V E T L p.380
. . | 09 . . . g.20227
AAAGGCCAAGCTGTGCGCAAACAGCTTTG | GGACACGGCCAACACGGTGAAGGAAAAGTTC c.1200
K G Q A V R K Q L W | D T A N T V K E K F p.400
. . | 10 . . . g.20382
GGGAGGAAGCTTTATGAATCCTTACTGGT | TGGGAGCCTTCCCGACATGAACAAGATGCTG c.1260
G R K L Y E S L L V | G S L P D M N K M L p.420
. . . . | 11 . g.23632
GATAAGGAAGACTTCACTATGATGAAGAGAGCCATCTTTGCAACGCAG | CGGCAGTCTTTC c.1320
D K E D F T M M K R A I F A T Q | R Q S F p.440
. . . . . . g.23692
CCCCCTGTGTGCACCCACAATATGCTGGATGACTCCTCAGACCCCATCCTGACCACCATC c.1380
P P V C T H N M L D D S S D P I L T T I p.460
. . . . | 12 . . g.24032
CGCCGAATCGGCCTCTTCAATAGCAGTGCCGACAGGGTGAAG | GTGATTTTCCACCCGGAG c.1440
R R I G L F N S S A D R V K | V I F H P E p.480
. . . . . . g.24092
TTCCTCTCCTCCACAAGCCCCCTGCTCCCTGTGGACTATGAGGAGTTTGTCCGTGGCTGT c.1500
F L S S T S P L L P V D Y E E F V R G C p.500
. . . . | 13 . g.27341
CACCTTGGAGTCTTCCCCTCCTACTATGAGCCTTGGGGCTACACACCGG | CTGAGTGCACG c.1560
H L G V F P S Y Y E P W G Y T P A | E C T p.520
. . . . . . g.27401
GTTATGGGAATCCCCAGTATCTCCACCAATCTCTCCGGCTTCGGCTGCTTCATGGAGGAA c.1620
V M G I P S I S T N L S G F G C F M E E p.540
. . | 14 . . . . g.27679
CACATCGCAGACCCCTCAGCTTACG | GTATCTACATTCTTGACCGGCGGTTCCGCAGCCTG c.1680
H I A D P S A Y G | I Y I L D R R F R S L p.560
. . . . . . g.27739
GATGATTCCTGCTCGCAGCTCACCTCCTTCCTCTACAGTTTCTGTCAGCAGAGCCGGCGG c.1740
D D S C S Q L T S F L Y S F C Q Q S R R p.580
. . . . . . g.27799
CAGCGTATCATCCAGCGGAACCGCACGGAGCGCCTCTCCGACCTTCTGGACTGGAAATAC c.1800
Q R I I Q R N R T E R L S D L L D W K Y p.600
| 15 . . . . . g.28549
CTAGGCCGG | TACTATATGTCTGCGCGCCACATGGCGCTGTCCAAGGCCTTTCCAGAGCAC c.1860
L G R | Y Y M S A R H M A L S K A F P E H p.620
. . . | 16 . . . g.28772
TTCACCTACGAGCCCAACGAGGCGGATGCG | GCCCAGGGGTACCGCTACCCACGGCCAGCC c.1920
F T Y E P N E A D A | A Q G Y R Y P R P A p.640
. . . . . . g.28832
TCGGTGCCACCGTCGCCCTCGCTGTCACGACACTCCAGCCCGCACCAGAGTGAGGACGAG c.1980
S V P P S P S L S R H S S P H Q S E D E p.660
. . . . . . g.28892
GAGGATCCCCGGAACGGGCCGCTGGAGGAAGACGGCGAGCGCTACGATGAGGACGAGGAG c.2040
E D P R N G P L E E D G E R Y D E D E E p.680
. . . . . . g.28952
GCCGCCAAGGACCGGCGCAACATCCGTGCACCAGAGTGGCCGCGCCGAGCGTCCTGCACC c.2100
A A K D R R N I R A P E W P R R A S C T p.700
. . . . . . g.29012
TCCTCCACCAGCGGCAGCAAGCGCAACTCTGTGGACACGGCCACCTCCAGCTCACTCAGC c.2160
S S T S G S K R N S V D T A T S S S L S p.720
. . . . . g.29066
ACCCCGAGCGAGCCCCTCAGCCCCACCAGCTCCCTGGGCGAGGAGCGTAACTAA c.2214
T P S E P L S P T S S L G E E R N X p.737
. . . . . . g.29126
gtccgccccaccacactccccgcctgtcctgcctctctgctccagagagaggatgcagag c.*60
. . . . . . g.29186
gggtgctgctcctaaacccccgctccagatctgcactgggtgtggccccgcagtgccccc c.*120
. . . . . . g.29246
acccagtccgccaaacactccaccccctccagctccagtttccaagttcctgcactccag c.*180
. . . . . . g.29306
aatccacaaagccgtgcctttctctggctccagaatatgcataatcagcgccctggagtc c.*240
. . . . . . g.29366
ccctgggcctggaccgcttcccagaggccaggaatctgccattactctgcggtggtgcca c.*300
. . . . . . g.29426
gaggttttaggaaacctggcatggtgctttcaggtctggggcttttagagccccccgtgt c.*360
. . . . . . g.29486
ggcttacaaattctacagcatacagagcaggccacgctcaggcccggcatgcgggccacc c.*420
. . . . . . g.29546
aagttctggaaaccacgtggtgtccctgcgaatggggcgatcaagtccagagccggggca c.*480
. . . . . . g.29606
ctttcagagtttgaaggtaactgagagcagatggtcctccatttcaactccagaagtggg c.*540
. . . . . . g.29666
gctctgggagggatgttctagccctccctggcatgtcagagccaggctctgcctggagga c.*600
. . . . . . g.29726
tccctccatccggctcctgtcatcccctacactttggccaagcaagaggtggtagaacca c.*660
. . . . . . g.29786
cttggctgctcattccttctggaggacacacagtctcagtccagatgccttcctgtcttt c.*720
. . . . . . g.29846
ctggccctttctggaccagatcctactcttcctttctaaatctgagatctccctccaggg c.*780
. . . . . . g.29906
aatccgcctgcagaggacagagctggctgtcttcccccacccctaacctggcttattccc c.*840
. . . . . . g.29966
aactgctctgcccactgtgaaaccactaggttctaggtcctggcttctagatctggaacc c.*900
. . . . . . g.30026
ttaccacgttactgcatactgatccctttcccatgatccagaactgaggtcactgggttc c.*960
. . . . . . g.30086
tagaacccccacatttacctcgaggctcttccatccccaaactgtgccctgccttcagct c.*1020
. . . . . . g.30146
ttggtgaaagggagggcccctcatgtgtgctgtgctgtgtctgcaccgcttggtttgcag c.*1080
. . . . . . g.30206
ttgagaggggagggcaggaggggtgtgattggagtgtgtccggagatgagatgaaaaaaa c.*1140
. . g.30229
tacatctatatttaagaatccca c.*1163
(downstream sequence)
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