(used for variant description)
(last modified November 27, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_004286.4 in the GTPBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering GTPBP1 transcript NM_004286.4.
(upstream sequence)
. . . g.5034
tgtttcttagctagaggtacgtgtcacccagtac c.-121
. . . . . . g.5094
gcggctggagttttgcataaattattccgataaggagcggggcggggctctgtgcataga c.-61
. . . . . . g.5154
ttagtcaaatgagcctgggagggagggaagccggctacgaattagcctaagttattaaag c.-1
. . . . . . g.5214
ATGGCGACGGAGCGCAGTCGCTCCGCGATGGACTCGCCGGTCCCGGCCTCTATGTTCGCC c.60
M A T E R S R S A M D S P V P A S M F A p.20
. . . . . . g.5274
CCCGAGCCCAGCTCCCCGGGGGCGGCCAGGGCCGCGGCGGCCGCCGCCCGACTCCACGGC c.120
P E P S S P G A A R A A A A A A R L H G p.40
. . . . . . g.5334
GGCTTTGACTCGGACTGCAGCGAGGACGGCGAGGCGCTCAACGGCGAGCCAGAGCTGGAC c.180
G F D S D C S E D G E A L N G E P E L D p.60
. | 02 . . . . . g.8091
CTCACCAGCAAG | CTGGTTCTAGTGAGCCCTACATCAGAGCAGTATGACAGCCTACTTCGG c.240
L T S K | L V L V S P T S E Q Y D S L L R p.80
. . . . . . g.8151
CAGATGTGGGAGAGGATGGACGAGGGATGCGGAGAGACCATATATGTCATTGGGCAGGGA c.300
Q M W E R M D E G C G E T I Y V I G Q G p.100
| 03 . . . . . . g.15161
TCAG | ATGGGACTGAGTATGGGCTGAGTGAAGCTGACATGGAGGCCTCCTACGCCACAGTG c.360
S D | G T E Y G L S E A D M E A S Y A T V p.120
. . . . . . g.15221
AAGAGCATGGCGGAACAGATAGAGGCCGATGTCATCCTTCTGCGGGAACGGCAAGAAGCT c.420
K S M A E Q I E A D V I L L R E R Q E A p.140
. . . . . . g.15281
GGGGGCCGCGTGCGTGATTACCTGGTCCGGAAACGAGTAGGAGACAATGACTTCCTGGAG c.480
G G R V R D Y L V R K R V G D N D F L E p.160
| 04 . . . . . . g.15905
GTCAG | GGTAGCAGTGGTGGGCAACGTGGATGCTGGCAAAAGCACGCTTCTGGGGGTCCTG c.540
V R | V A V V G N V D A G K S T L L G V L p.180
. . . . . . g.15965
ACACATGGGGAGCTGGACAATGGCCGAGGCTTTGCCCGCCAGAAACTCTTCCGCCACAAA c.600
T H G E L D N G R G F A R Q K L F R H K p.200
. . . . . . g.16025
CATGAAATTGAATCTGGTCGCACCAGCAGTGTGGGCAACGACATTCTGGGCTTTGACAGT c.660
H E I E S G R T S S V G N D I L G F D S p.220
. . . . . . g.16085
GAAGGCAATGTAGTGAACAAGCCTGACAGCCACGGCGGCAGCCTGGAGTGGACCAAGATC c.720
E G N V V N K P D S H G G S L E W T K I p.240
. . . . . . g.16145
TGTGAGAAGTCCACGAAAGTCATTACCTTCATCGACTTGGCTGGTCATGAGAAGTACCTG c.780
C E K S T K V I T F I D L A G H E K Y L p.260
. . . . . | 05 . g.20946
AAAACCACTGTCTTCGGCATGACAGGCCATCTGCCTGACTTCTGCATGCTCATG | GTGGGC c.840
K T T V F G M T G H L P D F C M L M | V G p.280
. . . . . . g.21006
AGCAATGCTGGCATCGTGGGGATGACCAAAGAACACCTGGGCTTGGCACTGGCACTCAAT c.900
S N A G I V G M T K E H L G L A L A L N p.300
. . . . . | 06 g.23497
GTACCTGTCTTTGTGGTAGTCACCAAGATTGACATGTGTCCTGCCAACATCCTGCAAG | AA c.960
V P V F V V V T K I D M C P A N I L Q E | p.320
. . . . . . g.23557
ACCCTGAAGCTGTTACAGCGCCTGCTGAAGTCACCAGGCTGCCGGAAGATCCCCGTGCTG c.1020
T L K L L Q R L L K S P G C R K I P V L p.340
. . . . . | 07 . g.25211
GTGCAGAGCAAAGATGATGTGATTGTCACAGCCTCCAACTTCAGCTCTGAAAG | GATGTGC c.1080
V Q S K D D V I V T A S N F S S E R | M C p.360
. . . . . . g.25271
CCGATATTCCAGATCTCCAACGTTACAGGCGAGAACCTAGATCTGCTGAAGATGTTCCTC c.1140
P I F Q I S N V T G E N L D L L K M F L p.380
. . . . . . g.25331
AACCTCCTCTCCCCCCGCACCAGCTACAGGGAGGAGGAGCCTGCTGAGTTTCAGATTGAT c.1200
N L L S P R T S Y R E E E P A E F Q I D p.400
. | 08 . . . . g.25498
GACACCTACTCCGTCCCG | GGTGTGGGGACAGTGGTTTCGGGGACAACACTGAGAGGCCTG c.1260
D T Y S V P | G V G T V V S G T T L R G L p.420
. . . . . . g.25558
ATCAAGCTGAATGACACGCTGCTGCTGGGCCCAGACCCCTTGGGTAACTTCCTGTCCATT c.1320
I K L N D T L L L G P D P L G N F L S I p.440
. . . . . . g.25618
GCTGTCAAATCCATCCATCGCAAGCGCATGCCTGTCAAGGAGGTGCGGGGTGGCCAGACA c.1380
A V K S I H R K R M P V K E V R G G Q T p.460
. . | 09 . . . . g.26450
GCATCCTTTGCGCTGAAGAAG | ATCAAGCGCTCGTCCATCCGGAAGGGCATGGTGATGGTT c.1440
A S F A L K K | I K R S S I R K G M V M V p.480
. . . . . . g.26510
TCCCCACGTTTGAATCCCCAAGCCTCCTGGGAGTTTGAGGCCGAGATTCTCGTCCTCCAC c.1500
S P R L N P Q A S W E F E A E I L V L H p.500
. . . | 10. . . g.27204
CACCCCACCACAATTAGCCCGCGCTACCAGGCCATGG | TGCACTGTGGGAGCATCAGGCAG c.1560
H P T T I S P R Y Q A M V | H C G S I R Q p.520
. . . . . . g.27264
ACAGCCACCATTCTGAGCATGGACAAGGACTGTCTGCGCACTGGGGACAAGGCCACTGTA c.1620
T A T I L S M D K D C L R T G D K A T V p.540
. . . . . . g.27324
CACTTCCGCTTCATCAAGACCCCTGAGTACCTGCACATAGACCAGCGGCTGGTGTTCCGG c.1680
H F R F I K T P E Y L H I D Q R L V F R p.560
. . . | 11 . . . g.28684
GAAGGCCGCACCAAGGCTGTCGGCACCATCACCAAG | CTCCTCCAGACCACCAACAACTCC c.1740
E G R T K A V G T I T K | L L Q T T N N S p.580
. . . . . . g.28744
CCAATGAACTCCAAGCCGCAGCAGATTAAAATGCAGTCGACGAAAAAGGGCCCCCTGACG c.1800
P M N S K P Q Q I K M Q S T K K G P L T p.600
. . . . . . g.28804
AAACGAGACGAGGGGGGCCCGTCTGGTGGGCCAGCAGTAGGAGCACCCCCACCTGGAGAT c.1860
K R D E G G P S G G P A V G A P P P G D p.620
. . . . . | 12. g.29813
GAAGCCTCCTCTGTAGGGGCAGGGCAACCAGCTGCGTCCAGCAATCTCCAGCCTCAG | CCT c.1920
E A S S V G A G Q P A A S S N L Q P Q | P p.640
. . . . . . g.29873
AAGCCCAGCAGTGGAGGCCGGCGACGAGGGGGCCAGCGCCACAAGGTGAAGTCCCAGGGG c.1980
K P S S G G R R R G G Q R H K V K S Q G p.660
. . . g.29903
GCCTGTGTGACTCCTGCCAGCGGCTGCTGA c.2010
A C V T P A S G C X p.669
. . . . . . g.29963
accttcccctggcccaccctcaccacccaaggggtcatcatctctggccaccactccacc c.*60
. . . . . . g.30023
agatgggcagagcagctatgaccgccacccagccctcccgctcaggccacagccggagcc c.*120
. . . . . . g.30083
tccgcattgcccccacccccattttccaggggggttgtaatttataagctgacgaaggta c.*180
. . . . . . g.30143
gccagacttccggaggactgaccatctctcactgtcctccccaccttcttcctcactcac c.*240
. . . . . . g.30203
acattttttgtacatctgggcccttagtttttattctgtttattatatgtctctgtctct c.*300
. . . . . . g.30263
ctctattgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtggtgcaggagtgcca c.*360
. . . . . . g.30323
cccccagggccctgtcaacctctcttttctcctccatggctgtctgcctgcgtatctgtc c.*420
. . . . . . g.30383
tctgagaatcctcggggcggtcaggggatgtcaggaggggaaggagccgccctccctatc c.*480
. . . . . . g.30443
ttgctgctcctcttggcactcaggggcaccttccatggagccagaccgggtggaggggct c.*540
. . . . . . g.30503
tctgggatttggtgtctgctgctgccagagcaggaacccccagtctaggacttgggcatt c.*600
. . . . . . g.30563
ttaacagggagaaagtagtggcttcccttttctctctctcctcctttttccctttaagcc c.*660
. . . . . . g.30623
cacagattcaggtcatgccaaaagctctctggttgtaacctggagacatgtggaggggaa c.*720
. . . . . . g.30683
tggcgatgggattataggactctccccatctcgggccctgaccctgacccttgccaccaa c.*780
. . . . . . g.30743
cccaaagacagctggtgggtttccccttggagacaatcctgcgtttgcctgggccggccc c.*840
. . . . . . g.30803
tggctgccctcagctttcgctgatctgcccggcctggagcctcccatcaccccgcttctt c.*900
. . . . . . g.30863
gttgggcctcaggcactggttaccagaagggggtctgggtctgctcaggatcatgttttg c.*960
. . . . . . g.30923
tagcacctcctgttggaggggtggagggatgttcccctgagccaggctgagactagaacc c.*1020
. . . . . . g.30983
ccatcttccctgagccaggctgagactagaaccccatcttccccaccacgccacccctgt c.*1080
. . . . . . g.31043
ggctgctacaggagcacagtagtgaaggcctgagctccaggtttgaaagacccaactgga c.*1140
. . . . . . g.31103
gcgtggggcgggcaggcaggggttagtgaaaggacacttccagggttaggacagagcatt c.*1200
. . . . . . g.31163
tagccttctggaagaacccctgcctggggtgggactgtgcaggccagagaaggtggcatg c.*1260
. . . . . . g.31223
ggcctgaacccacctggactgacttctgcactgaagccacagatggagggtaggctggtg c.*1320
. . . . . . g.31283
ggtgggggtggttcgttctctagccggggcagacacccagctggctgggtccttcctcag c.*1380
. . . . . . g.31343
ccttgcctcctcctgtccccaaccctttcctttcctcctgcttgcggactgctggtcccc c.*1440
. . . . . . g.31403
tctccttccctccttccagctgtttctagttaccacctacccctggccgtggactgatca c.*1500
. . . . . . g.31463
gaccagcattcaaaataaaagtttgttccaagttgacagtgtggtgctccctgcccagcc c.*1560
. . . . . . g.31523
cctccaggtggaggtgctgccacgggaacgcagttgctctgcctgccctggggcccctgg c.*1620
. . . . . . g.31583
cgacagctgggagcagggcagtgctgtgaggagcccagctttcccagtcaggcaggcatg c.*1680
. . . . . . g.31643
gcttccgtgttcaggctccctcaccagctggtgacacgggacaagcttacaaaccttctc c.*1740
. . . . . . g.31703
tgaacctcagttttctcatttacaagaggcaaagccatccatcaccttgtgtggattcag c.*1800
. . . . . . g.31763
agaatgtgaggccctggggtgtcctacacaagggaaaggcttgctcagtgagcggtctgc c.*1860
. . . . . . g.31823
acaccgttagccaccctgccacctctgtgccctgggcaggctccaaaggaaagctctggc c.*1920
. . . . . . g.31883
tgggactgccaggagtctcacacgctcctgttgacattcccagcagccgcccctgaggtc c.*1980
. . . . . . g.31943
gatgtttgttctgtttttctttttcttttttgagacggagtctcgctgtgttgccaggct c.*2040
. . . . . . g.32003
ggagtgcagtggtgtgatctctgctcactgcaacctccgcctgccagtttcaagtgattc c.*2100
. . . . . . g.32063
tctgcctcagccttctgagtagctgggactacaggtgcacgccaccacgcccagctaact c.*2160
. . . . . . g.32123
ttttgtattttagtagagacagggtttcgccatgtcggccagggtggtcttgatctcctg c.*2220
. . . . . . g.32183
acctcatgatccacccgcctcagcctcccaaagtgctgggattacaggtatgagccaccg c.*2280
. . . . . . g.32243
caccgggcctgttctatttttctagttaagggaactgaagctcagagaggtgtcaccagc c.*2340
. . . . . . g.32303
aggtgttcattcccatgccagccttgccccccggcttttcccaggcaggctcctgcgtgc c.*2400
. . . . . . g.32363
ccactggctccagcctggtcctctgtctcttggctgcttcactcctgctctttgtcccga c.*2460
. . . . . . g.32423
ctctggccctgcttacaggggccactacctgctggtgcctccataacaagcgtctggcgt c.*2520
. . . . . . g.32483
tgagacccctggcatggcaggggctttggggtctggtttccacaaggcttagccatggca c.*2580
. . . . . . g.32543
gaacctcgttttattttaactctttgcccctacaaacaaacagcagtacttgccagaacc c.*2640
. . . . . . g.32603
attcttgggattcaggagctcgggcgactgccttggcctctggccgcacccaggagggtg c.*2700
. . . . . . g.32663
gggttggatctgtgtagttgccaggcccacacctgccagcagggggctgactggatccat c.*2760
. . . . . . g.32723
gctttactgtgtttaatgggggtaacaggggtccctacagccctcccagctaaacatttg c.*2820
. . . . . . g.32783
gaacaaaacaccagcccttttgtagtggatgcagaataaaattgttaatccaatcacctc c.*2880
g.32786
caa c.*2883
(downstream sequence)
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