(used for variant description)
(last modified June 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004193.2 in the GBF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering GBF1 transcript NM_004193.2.
(upstream sequence)
. . . . . g.5054
gcgcagttaccaggcagcgggctagactgaggctagttaccacgtcagtgagct c.-241
. . . . . . g.5114
gacagggaaggtacccggctctactgcccgtcccggacgactcatcctggcggactgtgc c.-181
. . . . . . g.5174
agtcccaccctgacttcggcctcaatttccaggaaacaggctccttctcttctcccatct c.-121
. . . . . . g.5234
gctaccagagccgggagagctgctcggagacgcctccggggtgcgggctggacatgagca c.-61
. . . . . | 02 g.18441
gcggctgccggtcctgggactaggccccgccattttggatccgctgacag | gtttgccaag c.-1
. . . . . . g.18501
ATGGTGGATAAGAATATTTACATCATTCAAGGGGAGATTAACATTGTGGTTGGGGCCATC c.60
M V D K N I Y I I Q G E I N I V V G A I p.20
. . . | 03 . . . g.19576
AAACGAAATGCCCGATGGAGCACCCATACACCACTG | GATGAAGAACGGGATCCTCTGCTG c.120
K R N A R W S T H T P L | D E E R D P L L p.40
. . . . | 04 . . g.103570
CATAGTTTCGGTCATCTAAAGGAGGTTTTAAACAGTATAACAG | AACTCTCAGAAATTGAG c.180
H S F G H L K E V L N S I T E | L S E I E p.60
. . . . . . g.103630
CCCAATGTATTCCTTCGACCTTTTCTGGAAGTGATTCGCTCTGAAGATACCACTGGCCCT c.240
P N V F L R P F L E V I R S E D T T G P p.80
. . . . . | 05 . g.110763
ATCACTGGACTGGCACTCACCTCTGTCAACAAGTTCCTGTCCTATGCACTCATAG | ATCCC c.300
I T G L A L T S V N K F L S Y A L I D | P p.100
. . . . . . g.110823
ACCCATGAGGGCACAGCAGAGGGCATGGAGAACATGGCAGATGCTGTCACCCATGCTCGT c.360
T H E G T A E G M E N M A D A V T H A R p.120
. . . . . | 06 . g.111351
TTTGTGGGCACGGATCCTGCCAGTGATGAAGTTGTCCTGATGAAAATCCTTCAG | GTTCTA c.420
F V G T D P A S D E V V L M K I L Q | V L p.140
. . . . . . g.111411
CGGACTCTGCTGCTAACCCCAGTGGGTGCCCACCTAACCAATGAATCTGTGTGTGAGATT c.480
R T L L L T P V G A H L T N E S V C E I p.160
. . . . | 07 . . g.111977
ATGCAGTCTTGCTTCCGGATCTGCTTTGAAATGAGGCTCAGTG | AGTTATTGAGAAAATCC c.540
M Q S C F R I C F E M R L S E | L L R K S p.180
. . . . | 08 . . g.113118
GCAGAGCACACTCTCGTAGACATGGTGCAGCTGCTCTTCACAAG | GTTACCTCAGTTTAAA c.600
A E H T L V D M V Q L L F T R | L P Q F K p.200
. . . | 09 . . g.117562
GAAGAACCCAAGAACTATGTGGGGACCAACATGAAGAAG | CTGAAAATGAGAGCCGGAGGC c.660
E E P K N Y V G T N M K K | L K M R A G G p.220
. . . . . . g.117622
ATGAGTGATTCATCCAAATGGAAGAAACAGAAGAGATCCCCTCGGCCCCCACGCCATATG c.720
M S D S S K W K K Q K R S P R P P R H M p.240
. . . . . . g.117682
ACCAAAGTCACACCAGGTTCAGAGCTGCCCACTCCCAATGGAACCACCTTATCATCTAAC c.780
T K V T P G S E L P T P N G T T L S S N p.260
| 10. . . . . . g.118061
CTCACTG | GTGGCATGCCCTTCATTGATGTGCCCACTCCCATCTCCTCTGCAAGTTCAGAA c.840
L T G | G M P F I D V P T P I S S A S S E p.280
. . . . . . g.118121
GCTGCCTCAGCAGTGGTCAGTCCCTCTACAGACAGTGGCCTGGAATTCTCCTCCCAAACC c.900
A A S A V V S P S T D S G L E F S S Q T p.300
. . . . . . g.118181
ACTTCCAAGGAAGACCTTACTGATCTAGAGCAACCTGGCTCTCCAGGGTACAGCACAGCT c.960
T S K E D L T D L E Q P G S P G Y S T A p.320
. . . . . | 11 . g.118781
ACAGAGCCTGGAAGCAGTGAGCTAGGTGTTCCCGAGCAGCCTGACCTCCAG | GAAGGGACC c.1020
T E P G S S E L G V P E Q P D L Q | E G T p.340
. . . . . . g.118841
CATGTGGAAAAGTCCCAGTCAGCATCTGTGGAGTCCATCCCTGAAGTGTTAGAGGAGTGC c.1080
H V E K S Q S A S V E S I P E V L E E C p.360
. . . . . . g.118901
ACGTCCCCTGCCGACCACTCTGACTCTGCCTCTGTCCATGACATGGATTACGTCAATCCC c.1140
T S P A D H S D S A S V H D M D Y V N P p.380
. . . | 12. . . g.119709
CGGGGCGTGCGCTTTACACAGTCCTCCCAGAAAGAAG | GCACAGCTTTGGTCCCCTATGGT c.1200
R G V R F T Q S S Q K E G | T A L V P Y G p.400
. . . . . . g.119769
CTTCCCTGCATCCGCGAGCTCTTCCGCTTCCTCATCTCCCTCACCAATCCACACGACCGC c.1260
L P C I R E L F R F L I S L T N P H D R p.420
. . . . . . g.119829
CATAACTCAGAGGTTATGATTCACATGGGACTGCATTTGCTGACAGTGGCCCTTGAGTCA c.1320
H N S E V M I H M G L H L L T V A L E S p.440
. . . . . . g.119889
GCCCCTGTAGCCCAGTGCCAGACCCTCTTGGGCCTCATCAAGGATGAGATGTGCCGTCAC c.1380
A P V A Q C Q T L L G L I K D E M C R H p.460
| 13 . . . . . g.120575
TTATTCCAG | CTACTCAGCATAGAGCGACTAAACCTTTATGCTGCTTCCCTGCGAGTATGC c.1440
L F Q | L L S I E R L N L Y A A S L R V C p.480
. . . . | 14 . g.121232
TTCCTACTGTTTGAGAGCATGCGAGAGCACCTCAAGTTCCAAATGGAG | ATGTACATCAAA c.1500
F L L F E S M R E H L K F Q M E | M Y I K p.500
. . . . . . g.121292
AAGCTTATGGAGATCATCACTGTGGAGAACCCCAAGATGCCTTATGAGATGAAGGAGATG c.1560
K L M E I I T V E N P K M P Y E M K E M p.520
. . . . . . g.121352
GCACTGGAGGCCATTGTGCAGCTCTGGCGCATCCCCAGCTTTGTCACAGAGCTCTACATC c.1620
A L E A I V Q L W R I P S F V T E L Y I p.540
. . . . . . g.121412
AACTATGATTGTGACTACTACTGTTCCAACCTCTTTGAGGAACTCACAAAGCTGCTGTCC c.1680
N Y D C D Y Y C S N L F E E L T K L L S p.560
| 15 . . . . . . g.122034
AAG | AATGCCTTCCCTGTGTCTGGTCAACTCTATACAACACACCTACTATCTCTTGATGCC c.1740
K | N A F P V S G Q L Y T T H L L S L D A p.580
. . . . . . g.122094
CTATTGACAGTGATTGACAGCACCGAGGCCCACTGCCAGGCTAAAGTCCTCAACAGCCTC c.1800
L L T V I D S T E A H C Q A K V L N S L p.600
. . . . . . g.122154
ACCCAGCAAGAGAAGAAGGAGACAGCCAGACCAAGCTGTGAGATAGTAGATGGCACCCGA c.1860
T Q Q E K K E T A R P S C E I V D G T R p.620
. | 16 . . . . . g.122805
GAAGCTAGCAATA | CTGAGAGAACTGCCAGCGATGGGAAAGCTGTAGGCATGGCCTCAGAC c.1920
E A S N T | E R T A S D G K A V G M A S D p.640
. . . . . . g.122865
ATCCCAGGCCTGCATCTGCCAGGTGGAGGGCGGCTGCCACCAGAACATGGGAAATCAGGA c.1980
I P G L H L P G G G R L P P E H G K S G p.660
. . . | 17 . . . g.123238
TGCAGTGATCTGGAGGAAGCTGTTGACTCTGGGG | CTGACAAAAAGTTTGCCCGGAAGCCA c.2040
C S D L E E A V D S G A | D K K F A R K P p.680
. . . . . . g.123298
CCCCGATTTTCCTGTCTCCTGCCAGATCCACGGGAACTAATTGAAATTAAAAACAAAAAG c.2100
P R F S C L L P D P R E L I E I K N K K p.700
| 18 . . . . . . g.124956
AAG | CTGCTAATCACTGGCACAGAGCAGTTCAATCAGAAACCAAAGAAGGGGATTCAGTTT c.2160
K | L L I T G T E Q F N Q K P K K G I Q F p.720
. . . . . . g.125016
CTGCAAGAGAAAGGCCTCCTCACCATCCCAATGGACAACACAGAGGTTGCTCAGTGGCTC c.2220
L Q E K G L L T I P M D N T E V A Q W L p.740
. . . . . . g.125076
CGAGAGAACCCTCGGCTGGACAAGAAGATGATTGGAGAGTTTGTGAGTGACCGCAAAAAC c.2280
R E N P R L D K K M I G E F V S D R K N p.760
. . | 19 . . . . g.125919
ATTGACCTGTTGGAGAGCTTTGTGAG | CACCTTCAGTTTTCAGGGTCTGCGACTGGACGAA c.2340
I D L L E S F V S | T F S F Q G L R L D E p.780
. . . . . . g.125979
GCCCTCCGCCTCTACCTGGAAGCCTTCCGTTTGCCTGGGGAAGCACCAGTCATCCAGAGG c.2400
A L R L Y L E A F R L P G E A P V I Q R p.800
. . . | 20 . . . g.126617
TTGCTGGAGGCATTCACAGAGCGTTGGATG | AATTGTAATGGCTCCCCATTTGCCAATAGC c.2460
L L E A F T E R W M | N C N G S P F A N S p.820
. . . . . . g.126677
GATGCCTGCTTTTCCCTGGCCTATGCTGTCATCATGCTTAATACTGACCAGCACAACCAC c.2520
D A C F S L A Y A V I M L N T D Q H N H p.840
. . . | 21 . . . g.127004
AATGTTCGTAAACAGAATGCACCCATGACCCTGGAG | GAGTTTCGCAAAAATCTGAAAGGT c.2580
N V R K Q N A P M T L E | E F R K N L K G p.860
. . . . . | 22 g.127721
GTGAATGGAGGCAAGGACTTTGAGCAAGACATCCTGGAGGACATGTACCATGCCATCAA | G c.2640
V N G G K D F E Q D I L E D M Y H A I K | p.880
. . . . . . g.127781
AATGAGGAAATTGTAATGCCTGAGGAGCAGACAGGCTTGGTTCGGGAGAACTATGTGTGG c.2700
N E E I V M P E E Q T G L V R E N Y V W p.900
. . . . . . g.127841
AATGTGCTGCTTCATCGAGGTGCCACCCCTGAGGGCATATTCCTGCGTGTGCCTACTGCC c.2760
N V L L H R G A T P E G I F L R V P T A p.920
. . . . . . g.127901
AGCTATGATCTTGACCTCTTCACCATGACCTGGGGCCCCACTATTGCTGCTCTCTCTTAT c.2820
S Y D L D L F T M T W G P T I A A L S Y p.940
. . . . . | 23 . g.128245
GTCTTTGACAAAAGCCTTGAGGAGACAATCATCCAGAAAGCCATCTCAGGCTTCAG | GAAG c.2880
V F D K S L E E T I I Q K A I S G F R | K p.960
. . . . . . g.128305
TGCGCCATGATCTCCGCCCACTATGGCCTCAGCGATGTGTTTGACAATCTCATCATCTCT c.2940
C A M I S A H Y G L S D V F D N L I I S p.980
. . . | 24 . . . g.128743
CTATGCAAATTCACAGCTCTCAGCAGTGAG | TCTATTGAGAACCTGCCCAGTGTATTTGGA c.3000
L C K F T A L S S E | S I E N L P S V F G p.1000
. . . . . . g.128803
AGCAACCCTAAAGCCCATATTGCAGCCAAGACAGTATTCCATTTGGCCCATCGTCATGGT c.3060
S N P K A H I A A K T V F H L A H R H G p.1020
. . . . . . g.128863
GACATCCTGCGGGAGGGCTGGAAGAATATCATGGAGGCCATGCTGCAGCTCTTCCGAGCC c.3120
D I L R E G W K N I M E A M L Q L F R A p.1040
. . | 25. . . . g.129246
CAACTACTGCCCAAGGCTATGATAGAG | GTAGAAGATTTCGTGGATCCCAATGGCAAGATC c.3180
Q L L P K A M I E | V E D F V D P N G K I p.1060
. . . | 26 . . . g.129391
TCTCTACAGCGGGAAGAGACACCATCAAACCG | AGGAGAGTCAACAGTGCTGAGCTTTGTG c.3240
S L Q R E E T P S N R | G E S T V L S F V p.1080
. . . . . . g.129451
AGCTGGCTAACACTGAGTGGTCCTGAGCAGTCTAGTGTTCGGGGCCCATCCACTGAAAAC c.3300
S W L T L S G P E Q S S V R G P S T E N p.1100
. . . | 27 . . . g.129700
CAAGAGGCCAAGAGAGTGGCCTTAGAGTGTATAAAG | CAATGTGACCCAGAAAAAATGATC c.3360
Q E A K R V A L E C I K | Q C D P E K M I p.1120
. . . . | 28 . g.129898
ACAGAAAGCAAGTTCCTCCAGCTGGAGTCACTACAGGAGCTCATGAAG | GCTCTGGTCTCA c.3420
T E S K F L Q L E S L Q E L M K | A L V S p.1140
. . . . . . g.129958
GTGACACCAGATGAAGAGACATATGATGAGGAAGATGCTGCTTTCTGCCTAGAGATGCTG c.3480
V T P D E E T Y D E E D A A F C L E M L p.1160
. . | 29 . . . . g.130246
CTAAGGATTGTGTTGGAGAACAG | GGATCGTGTGGGCTGTGTGTGGCAGACTGTTCGAGAC c.3540
L R I V L E N R | D R V G C V W Q T V R D p.1180
. . . . . . g.130306
CATCTATACCACCTCTGTGTTCAGGCACAAGATTTCTGCTTCCTTGTGGAGCGGGCAGTG c.3600
H L Y H L C V Q A Q D F C F L V E R A V p.1200
. . . . . | 30. g.134864
GTGGGGTTGCTACGCCTGGCCATTCGGCTTCTCCGGAGAGAAGAGATCAGTGCTCAG | GTG c.3660
V G L L R L A I R L L R R E E I S A Q | V p.1220
. . . . . . g.134924
CTGCTCTCCCTGCGCATTTTGCTACTGATGAAGCCCAGTGTGCTATCCCGAGTCAGCCAC c.3720
L L S L R I L L L M K P S V L S R V S H p.1240
. . . . . . g.134984
CAGGTTGCGTATGGGCTCCATGAACTCCTGAAGACCAATGCAGCCAACATCCACTCAGGT c.3780
Q V A Y G L H E L L K T N A A N I H S G p.1260
. . . . . . g.135044
GATGACTGGGCCACACTCTTCACACTGCTGGAGTGCATCGGCTCAGGTGTGAAGCCTCCA c.3840
D D W A T L F T L L E C I G S G V K P P p.1280
. . . . | 31 . . g.135791
GCTGCTCTGCAGGCCACAGCCAGGGCAGATGCACCTGATGCCG | GGGCCCAGTCAGATAGT c.3900
A A L Q A T A R A D A P D A G | A Q S D S p.1300
. . . . . . g.135851
GAGCTCCCATCCTACCATCAGAATGACGTGAGCCTGGATCGAGGGTACACTTCCGACTCA c.3960
E L P S Y H Q N D V S L D R G Y T S D S p.1320
. . . . . . g.135911
GAGGTCTACACTGACCATGGCAGGCCGGGCAAGATACACCGATCAGCCACAGATGCCGAT c.4020
E V Y T D H G R P G K I H R S A T D A D p.1340
. . | 32 . . . . g.136098
GTGGTCAACAGTGGTTGGTTAGTG | GTTGGGAAGGATGACGTTGATAACTCCAAGCCAGGG c.4080
V V N S G W L V | V G K D D V D N S K P G p.1360
. . . . . . g.136158
CCCAGCCGCCCAGGCCCTTCACCCCTGATCAATCAATACAGCCTAACAGTGGGACTGGAT c.4140
P S R P G P S P L I N Q Y S L T V G L D p.1380
. . . . . . g.136218
TTGGGGCCACACGACACTAAGTCTCTGCTTAAGTGTGTGGAATCGCTGTCCTTCATTGTG c.4200
L G P H D T K S L L K C V E S L S F I V p.1400
. . . . . . g.136278
CGTGATGCTGCCCACATCACACCTGACAACTTTGAGCTCTGCGTCAAGACTCTCCGGATC c.4260
R D A A H I T P D N F E L C V K T L R I p.1420
. . | 33 . . . . g.136472
TTTGTGGAGGCCAGTCTGAATGGCG | GATGCAAGTCCCAGGAGAAACGTGGCAAGAGTCAC c.4320
F V E A S L N G G | C K S Q E K R G K S H p.1440
. . . . . . g.136532
AAATATGACAGCAAAGGGAACCGCTTCAAGAAGAAATCCAAAGAGGGATCAATGCTTCGC c.4380
K Y D S K G N R F K K K S K E G S M L R p.1460
. . . . . . g.136592
CGGCCTCGAACCTCCAGCCAACATGCCTCTCGGGGCGGGCAGAGTGATGATGATGAGGAC c.4440
R P R T S S Q H A S R G G Q S D D D E D p.1480
. . . . . | 34 . g.138795
GAAGGCGTGCCTGCCAGCTACCATACGGTGTCTTTACAGGTCAGTCAGGAC | TTGCTAGAC c.4500
E G V P A S Y H T V S L Q V S Q D | L L D p.1500
. . . . . . g.138855
CTGATGCACACCCTGCACACGCGGGCAGCCTCTATCTACAGCTCATGGGCGGAGGAGCAA c.4560
L M H T L H T R A A S I Y S S W A E E Q p.1520
. . . . . . g.138915
CGCCACCTGGAGACAGGTGGCCAGAAGATTGAAGCTGATTCTCGCACCCTCTGGGCCCAC c.4620
R H L E T G G Q K I E A D S R T L W A H p.1540
. . | 35 . . . . g.139061
TGCTGGTGCCCTTTACTGCAGG | GTATTGCCTGCCTGTGCTGCGATGCCCGGCGCCAGGTA c.4680
C W C P L L Q G | I A C L C C D A R R Q V p.1560
. . . . . . g.139121
CGGATGCAGGCACTGACCTATCTGCAGCGAGCACTACTTGTACATGATCTGCAAAAGCTA c.4740
R M Q A L T Y L Q R A L L V H D L Q K L p.1580
. . . | 36 . . . g.139382
GATGCCCTGGAATGGGAGTCCTGTTTTAACAAG | GTGCTGTTTCCTCTACTTACCAAGCTC c.4800
D A L E W E S C F N K | V L F P L L T K L p.1600
. . . . . . g.139442
TTGGAGAACATCAGCCCTGCAGATGTGGGTGGGATGGAGGAGACCCGGATGAGGGCTTCC c.4860
L E N I S P A D V G G M E E T R M R A S p.1620
. | 37 . . . . . g.139796
ACATTGCTCTCTAAG | GTCTTCCTGCAGCACCTGTCTCCACTGCTGTCACTCTCTACCTTT c.4920
T L L S K | V F L Q H L S P L L S L S T F p.1640
. . . . . . g.139856
GCGGCCCTCTGGCTCACCATCTTGGACTTCATGGACAAGTACATGCACGCAGGCTCCAGC c.4980
A A L W L T I L D F M D K Y M H A G S S p.1660
| 38 . . . . . g.140059
GACTTACTG | TCAGAGGCGATCCCTGAGTCTCTGAAGAACATGCTTCTGGTGATGGACACA c.5040
D L L | S E A I P E S L K N M L L V M D T p.1680
. . . . . . g.140119
GCGGAGATTTTCCACAGTGCAGATGCACGGGGAGGCGGCCCCTCGGCCCTCTGGGAGATC c.5100
A E I F H S A D A R G G G P S A L W E I p.1700
. . . . . . g.140179
ACCTGGGAACGCATTGACTGTTTTCTCCCTCACCTACGAGATGAACTCTTCAAGCAGACC c.5160
T W E R I D C F L P H L R D E L F K Q T p.1720
. | 39 . . . . . g.140679
GTCATCCAGG | ACCCCATGCCCATGGAGCCTCAAGGCCAAAAGCCTCTCGCCTCAGCCCAC c.5220
V I Q D | P M P M E P Q G Q K P L A S A H p.1740
. . . . . . g.140739
CTGACTTCCGCTGCTGGCGACACTAGGACACCTGGCCATCCACCGCCCCCAGAGATTCCA c.5280
L T S A A G D T R T P G H P P P P E I P p.1760
. | 40 . . . . g.141599
TCTGAGCTGGGGGCCTGTG | ACTTTGAGAAGCCCGAGAGCCCCCGAGCCGCCAGCAGCAGC c.5340
S E L G A C D | F E K P E S P R A A S S S p.1780
. . . . . . g.141659
TCCCCAGGATCACCAGTGGCCTCAAGCCCCAGCAGGCTGAGCCCCACCCCCGACGGGCCT c.5400
S P G S P V A S S P S R L S P T P D G P p.1800
. . . . . . g.141719
CCACCCTTGGCTCAGCCCCCACTGATCCTGCAGCCCTTGGCCTCCCCACTGCAGGTGGGC c.5460
P P L A Q P P L I L Q P L A S P L Q V G p.1820
. . . . . . g.141779
GTGCCACCTATGACTCTGCCCATCATCCTCAACCCTGCGCTCATCGAGGCCACCTCACCA c.5520
V P P M T L P I I L N P A L I E A T S P p.1840
. . . . . . g.141839
GTGCCCCTCCTGGCCACACCCCGCCCCACAGATCCCATACCCACCTCTGAGGTCAACTAA c.5580
V P L L A T P R P T D P I P T S E V N X p.1859
. . . . . . g.141899
ggcaggtcactcagagatcaggaccagtgcttcccaccaggctttccttgaccccacttc c.*60
. . . . . . g.141959
tggctgtcctgcgggccacaagctcttcaggccaagtcagagctgctgttgctgccactt c.*120
. . . . . . g.142019
ggatggggacctgaaaaagagaatgttgatagccccagctaagacccccaatcagctgtg c.*180
. . . . . . g.142079
ggacctttttcctcctctgcgctccattcctgggggttcagcctgagagtgaactcagct c.*240
. . . . . . g.142139
gtcatctgcagcctctgcctccagcccggcagctctggggaggcatccgtgtgccggccc c.*300
. . . . . . g.142199
tgcagtgcctgcccacggtcaggcattgaaaactaagcccaaccactctgcactttgttt c.*360
. . . . . . g.142259
cccactcccattagccctgggccacctcctccagttcttcctcttttactaattagttgg c.*420
. . . . . . g.142319
tcagtttggagagttgactggcaccatggagggtaggcaggtgggggctgggtgggggac c.*480
. . . . . . g.142379
tgcccacaggagcatgtacatatggaaaaacagaacaacagtggactttttatgatataa c.*540
. . g.142402
taaatgtcttagtaccagcatca c.*563
(downstream sequence)
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