(used for variant description)
(last modified October 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_023110.2 in the FGFR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007729.1, covering FGFR1 transcript NM_023110.2.
(upstream sequence)
. . . . g.5042
agatgcaggggcgcaaacgccaaaggagaccaggctgtagga c.-901
. . . . . . g.5102
agagaagggcagagcgccggacagctcggcccgctccccgtcctttggggccgcggctgg c.-841
. . . . . . g.5162
ggaactacaaggcccagcaggcagctgcagggggcggaggcggaggagggaccagcgcgg c.-781
. . . . . . g.5222
gtgggagtgagagagcgagccctcgcgccccgccggcgcatagcgctcggagcgctcttg c.-721
. . . . . . g.5282
cggccacaggcgcggcgtcctcggcggcgggcggcagctagcgggagccgggacgccggt c.-661
. . . . . . g.5342
gcagccgcagcgcgcggaggaacccgggtgtgccgggagctgggcggccacgtccggacg c.-601
. . . . . . g.5402
ggaccgagacccctcgtagcgcattgcggcgacctcgccttccccggccgcgagcgcgcc c.-541
. . . . . . g.5462
gctgcttgaaaagccgcggaacccaaggacttttctccggtccgagctcggggcgccccg c.-481
. . . . . . g.5522
cagggcgcacggtacccgtgctgcagtcgggcacgccgcggcgccggggcctccgcaggg c.-421
. . . . . . g.5582
cgatggagcccggtctgcaaggaaagtgaggcgccgccgctgcgttctggaggagggggg c.-361
. . . . . . g.5642
cacaaggtctggagaccccgggtggcggacgggagccctccccccgccccgcctccgggg c.-301
. . . . . . g.5702
caccagctccggctccattgttcccgcccgggctggaggcgccgagcaccgagcgccgcc c.-241
. . . . . . g.5762
gggagtcgagcgccggccgcggagctcttgcgaccccgccaggacccgaacagagcccgg c.-181
. . . . . . g.5822
gggcggcgggccggagccggggacgcgggcacacgcccgctcgcacaagccacggcggac c.-121
. . . . | 02 . . g.16328
tctcccgaggcggaacctccacgccgagcgag | ggtcagtttgaaaaggaggatcgagctc c.-61
. . . . . . g.16388
actgtggagtatccatggagatgtggagccttgtcaccaacctctaactgcagaactggg c.-1
. . . . . . g.16448
ATGTGGAGCTGGAAGTGCCTCCTCTTCTGGGCTGTGCTGGTCACAGCCACACTCTGCACC c.60
M W S W K C L L F W A V L V T A T L C T p.20
. . . | 03 . . . g.43915
GCTAGGCCGTCCCCGACCTTGCCTGAACAAG | CCCAGCCCTGGGGAGCCCCTGTGGAAGTG c.120
A R P S P T L P E Q A | Q P W G A P V E V p.40
. . . . . . g.43975
GAGTCCTTCCTGGTCCACCCCGGTGACCTGCTGCAGCTTCGCTGTCGGCTGCGGGACGAT c.180
E S F L V H P G D L L Q L R C R L R D D p.60
. . . . . . g.44035
GTGCAGAGCATCAACTGGCTGCGGGACGGGGTGCAGCTGGCGGAAAGCAACCGCACCCGC c.240
V Q S I N W L R D G V Q L A E S N R T R p.80
. . . . . . g.44095
ATCACAGGGGAGGAGGTGGAGGTGCAGGACTCCGTGCCCGCAGACTCCGGCCTCTATGCT c.300
I T G E E V E V Q D S V P A D S G L Y A p.100
. . . . . | 04 g.45401
TGCGTAACCAGCAGCCCCTCGGGCAGTGACACCACCTACTTCTCCGTCAATGTTTCAG | AT c.360
C V T S S P S G S D T T Y F S V N V S D | p.120
. . . . . . g.45461
GCTCTCCCCTCCTCGGAGGATGATGATGATGATGATGACTCCTCTTCAGAGGAGAAAGAA c.420
A L P S S E D D D D D D D S S S E E K E p.140
. . | 05 . . . g.45773
ACAGATAACACCAAACCAAACCGTATGC | CCGTAGCTCCATATTGGACATCCCCAGAAAAG c.480
T D N T K P N R M P | V A P Y W T S P E K p.160
. . . . . . g.45833
ATGGAAAAGAAATTGCATGCAGTGCCGGCTGCCAAGACAGTGAAGTTCAAATGCCCTTCC c.540
M E K K L H A V P A A K T V K F K C P S p.180
. . . . . . g.45893
AGTGGGACCCCAAACCCCACACTGCGCTGGTTGAAAAATGGCAAAGAATTCAAACCTGAC c.600
S G T P N P T L R W L K N G K E F K P D p.200
. . | 06 . . . . g.47628
CACAGAATTGGAGGCTACAAG | GTCCGTTATGCCACCTGGAGCATCATAATGGACTCTGTG c.660
H R I G G Y K | V R Y A T W S I I M D S V p.220
. . . . . . g.47688
GTGCCCTCTGACAAGGGCAACTACACCTGCATTGTGGAGAATGAGTACGGCAGCATCAAC c.720
V P S D K G N Y T C I V E N E Y G S I N p.240
. . | 07 . . . . g.49170
CACACATACCAGCTGGATGTCGTGG | AGCGGTCCCCTCACCGGCCCATCCTGCAAGCAGGG c.780
H T Y Q L D V V E | R S P H R P I L Q A G p.260
. . . . . . g.49230
TTGCCCGCCAACAAAACAGTGGCCCTGGGTAGCAACGTGGAGTTCATGTGTAAGGTGTAC c.840
L P A N K T V A L G S N V E F M C K V Y p.280
. . . . . . g.49290
AGTGACCCGCAGCCGCACATCCAGTGGCTAAAGCACATCGAGGTGAATGGGAGCAAGATT c.900
S D P Q P H I Q W L K H I E V N G S K I p.300
. . . | 08 . . . g.51917
GGCCCAGACAACCTGCCTTATGTCCAGATCTTGAAG | ACTGCTGGAGTTAATACCACCGAC c.960
G P D N L P Y V Q I L K | T A G V N T T D p.320
. . . . . . g.51977
AAAGAGATGGAGGTGCTTCACTTAAGAAATGTCTCCTTTGAGGACGCAGGGGAGTATACG c.1020
K E M E V L H L R N V S F E D A G E Y T p.340
. . . . . . g.52037
TGCTTGGCGGGTAACTCTATCGGACTCTCCCATCACTCTGCATGGTTGACCGTTCTGGAA c.1080
C L A G N S I G L S H H S A W L T V L E p.360
| 09 . . . . . . g.54158
G | CCCTGGAAGAGAGGCCGGCAGTGATGACCTCGCCCCTGTACCTGGAGATCATCATCTAT c.1140
A | L E E R P A V M T S P L Y L E I I I Y p.380
. . . . . . g.54218
TGCACAGGGGCCTTCCTCATCTCCTGCATGGTGGGGTCGGTCATCGTCTACAAGATGAAG c.1200
C T G A F L I S C M V G S V I V Y K M K p.400
. . . . . . g.54278
AGTGGTACCAAGAAGAGTGACTTCCACAGCCAGATGGCTGTGCACAAGCTGGCCAAGAGC c.1260
S G T K K S D F H S Q M A V H K L A K S p.420
. . | 10 . . . . g.55497
ATCCCTCTGCGCAGACAGGTAACA | GTGTCTGCTGACTCCAGTGCATCCATGAACTCTGGG c.1320
I P L R R Q V T | V S A D S S A S M N S G p.440
. . . . . . g.55557
GTTCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTCCCATGCTAGCAGGGGTC c.1380
V L L V R P S R L S S S G T P M L A G V p.460
. . . . . | 11 . g.55853
TCTGAGTATGAGCTTCCCGAAGACCCTCGCTGGGAGCTGCCTCGGGACAG | ACTGGTCTTA c.1440
S E Y E L P E D P R W E L P R D R | L V L p.480
. . . . . . g.55913
GGCAAACCCCTGGGAGAGGGCTGCTTTGGGCAGGTGGTGTTGGCAGAGGCTATCGGGCTG c.1500
G K P L G E G C F G Q V V L A E A I G L p.500
. . . . . | 12 . g.56426
GACAAGGACAAACCCAACCGTGTGACCAAAGTGGCTGTGAAGATGTTGAAGT | CGGACGCA c.1560
D K D K P N R V T K V A V K M L K S | D A p.520
. . . . . . g.56486
ACAGAGAAAGACTTGTCAGACCTGATCTCAGAAATGGAGATGATGAAGATGATCGGGAAG c.1620
T E K D L S D L I S E M E M M K M I G K p.540
. . . . | 13 . . g.57791
CATAAGAATATCATCAACCTGCTGGGGGCCTGCACGCAGGATG | GTCCCTTGTATGTCATC c.1680
H K N I I N L L G A C T Q D G | P L Y V I p.560
. . . . . . g.57851
GTGGAGTATGCCTCCAAGGGCAACCTGCGGGAGTACCTGCAGGCCCGGAGGCCCCCAGGG c.1740
V E Y A S K G N L R E Y L Q A R R P P G p.580
. . . . . . g.57911
CTGGAATACTGCTACAACCCCAGCCACAACCCAGAGGAGCAGCTCTCCTCCAAGGACCTG c.1800
L E Y C Y N P S H N P E E Q L S S K D L p.600
. . . . . | 14 . g.58939
GTGTCCTGCGCCTACCAGGTGGCCCGAGGCATGGAGTATCTGGCCTCCAAGAAG | TGCATA c.1860
V S C A Y Q V A R G M E Y L A S K K | C I p.620
. . . . . . g.58999
CACCGAGACCTGGCAGCCAGGAATGTCCTGGTGACAGAGGACAATGTGATGAAGATAGCA c.1920
H R D L A A R N V L V T E D N V M K I A p.640
. . . . . | 15. g.59208
GACTTTGGCCTCGCACGGGACATTCACCACATCGACTACTATAAAAAGACAACCAAC | GGC c.1980
D F G L A R D I H H I D Y Y K K T T N | G p.660
. . . . . . g.59268
CGACTGCCTGTGAAGTGGATGGCACCCGAGGCATTATTTGACCGGATCTACACCCACCAG c.2040
R L P V K W M A P E A L F D R I Y T H Q p.680
| 16 . . . . . g.59597
AGTGATGT | GTGGTCTTTCGGGGTGCTCCTGTGGGAGATCTTCACTCTGGGCGGCTCCCCA c.2100
S D V | W S F G V L L W E I F T L G G S P p.700
. . . . . . g.59657
TACCCCGGTGTGCCTGTGGAGGAACTTTTCAAGCTGCTGAAGGAGGGTCACCGCATGGAC c.2160
Y P G V P V E E L F K L L K E G H R M D p.720
. . | 17 . . . . g.59845
AAGCCCAGTAACTGCACCAACGAGCT | GTACATGATGATGCGGGACTGCTGGCATGCAGTG c.2220
K P S N C T N E L | Y M M M R D C W H A V p.740
. . . . . . g.59905
CCCTCACAGAGACCCACCTTCAAGCAGCTGGTGGAAGACCTGGACCGCATCGTGGCCTTG c.2280
P S Q R P T F K Q L V E D L D R I V A L p.760
. | 18 . . . . . g.60078
ACCTCCAACCAG | GAGTACCTGGACCTGTCCATGCCCCTGGACCAGTACTCCCCCAGCTTT c.2340
T S N Q | E Y L D L S M P L D Q Y S P S F p.780
. . . . . . g.60138
CCCGACACCCGGAGCTCTACGTGCTCCTCAGGGGAGGATTCCGTCTTCTCTCATGAGCCG c.2400
P D T R S S T C S S G E D S V F S H E P p.800
. . . . . . g.60198
CTGCCCGAGGAGCCCTGCCTGCCCCGACACCCAGCCCAGCTTGCCAATGGCGGACTCAAA c.2460
L P E E P C L P R H P A Q L A N G G L K p.820
g.60207
CGCCGCTGA c.2469
R R X p.822
. . . . . . g.60267
ctgccacccacacgccctccccagactccaccgtcagctgtaaccctcacccacagcccc c.*60
. . . . . . g.60327
tgctgggcccaccacctgtccgtccctgtcccctttcctgctggcaggagccggctgcct c.*120
. . . . . . g.60387
accaggggccttcctgtgtggcctgccttcaccccactcagctcacctctccctccacct c.*180
. . . . . . g.60447
cctctccacctgctggtgagaggtgcaaagaggcagatctttgctgccagccacttcatc c.*240
. . . . . . g.60507
ccctcccagatgttggaccaacacccctccctgccaccaggcactgcctggagggcaggg c.*300
. . . . . . g.60567
agtgggagccaatgaacaggcatgcaagtgagagcttcctgagctttctcctgtcggttt c.*360
. . . . . . g.60627
ggtctgttttgccttcacccataagcccctcgcactctggtggcaggtgccttgtcctca c.*420
. . . . . . g.60687
gggctacagcagtagggaggtcagtgcttcgtgcctcgattgaaggtgacctctgcccca c.*480
. . . . . . g.60747
gataggtggtgccagtggcttattaattccgatactagtttgctttgctgaccaaatgcc c.*540
. . . . . . g.60807
tggtaccagaggatggtgaggcgaaggccaggttgggggcagtgttgtggccctggggcc c.*600
. . . . . . g.60867
cagccccaaactgggggctctgtatatagctatgaagaaaacacaaagtgtataaatctg c.*660
. . . . . . g.60927
agtatatatttacatgtctttttaaaagggtcgttaccagagatttacccatcgggtaag c.*720
. . . . . . g.60987
atgctcctggtggctgggaggcatcagttgctatatattaaaaacaaaaaagaaaaaaaa c.*780
. . . . . . g.61047
ggaaaatgtttttaaaaaggtcatatattttttgctacttttgctgttttatttttttaa c.*840
. . . . . . g.61107
attatgttctaaacctattttcagtttaggtccctcaataaaaattgctgctgcttcatt c.*900
. . . . . . g.61167
tatctatgggctgtatgaaaagggtgggaatgtccactggaaagaagggacacccacggg c.*960
. . . . . . g.61227
ccctggggctaggtctgtcccgagggcaccgcatgctcccggcgcaggttccttgtaacc c.*1020
. . . . . . g.61287
tcttcttcctaggtcctgcacccagacctcacgacgcacctcctgcctctccgctgcttt c.*1080
. . . . . . g.61347
tggaaagtcagaaaaagaagatgtctgcttcgagggcaggaaccccatccatgcagtaga c.*1140
. . . . . . g.61407
ggcgctgggcagagagtcaaggcccagcagccatcgaccatggatggtttcctccaagga c.*1200
. . . . . . g.61467
aaccggtggggttgggctggggagggggcacctacctaggaatagccacggggtagagct c.*1260
. . . . . . g.61527
acagtgattaagaggaaagcaagggcgcggttgctcacgcctgtaatcccagcactttgg c.*1320
. . . . . . g.61587
gacaccgaggtgggcagatcacttcaggtcaggagtttgagaccagcctggccaacttag c.*1380
. . . . . . g.61647
tgaaaccccatctctactaaaaatgcaaaaattatccaggcatggtggcacacgcctgta c.*1440
. . . . . . g.61707
atcccagctccacaggaggctgaggcagaatcccttgaagctgggaggcggaggttgcag c.*1500
. . . . . . g.61767
tgagccgagattgcgccattgcactccagcctgggcaacagagaaaacaaaaaggaaaac c.*1560
. . . . . . g.61827
aaatgatgaaggtctgcagaaactgaaacccagacatgtgtctgccccctctatgtgggc c.*1620
. . . . . . g.61887
atggttttgccagtgcttctaagtgcaggagaacatgtcacctgaggctagttttgcatt c.*1680
. . . . . . g.61947
caggtccctggcttcgtttcttgttggtatgcctccccagatcgtccttcctgtatccat c.*1740
. . . . . . g.62007
gtgaccagactgtatttgttgggactgtcgcagatcttggcttcttacagttcttcctgt c.*1800
. . . . . . g.62067
ccaaactccatcctgtccctcaggaacggggggaaaattctccgaatgtttttggttttt c.*1860
. . . . . . g.62127
tggctgcttggaatttacttctgccacctgctggtcatcactgtcctcactaagtggatt c.*1920
. . . . . . g.62187
ctggctcccccgtacctcatggctcaaactaccactcctcagtcgctatattaaagctta c.*1980
. . . . . . g.62247
tattttgctggattactgctaaatacaaaagaaagttcaatatgttttcatttctgtagg c.*2040
. . . . . . g.62307
gaaaatgggattgctgctttaaatttctgagctagggattttttggcagctgcagtgttg c.*2100
. . . . . . g.62367
gcgactattgtaaaattctctttgtttctctctgtaaatagcacctgctaacattacaat c.*2160
. . . . . . g.62427
ttgtatttatgtttaaagaaggcatcatttggtgaacagaactaggaaatgaatttttag c.*2220
. . . . . . g.62487
ctcttaaaagcatttgctttgagaccgcacaggagtgtctttccttgtaaaacagtgatg c.*2280
. . . . . . g.62547
ataatttctgccttggccctaccttgaagcaatgttgtgtgaagggatgaagaatctaaa c.*2340
. . . . . . g.62607
agtcttcataagtccttgggagaggtgctagaaaaatataaggcactatcataattacag c.*2400
. . . . . . g.62667
tgatgtccttgctgttactactcaaatcacccacaaatttccccaaagactgcgctagct c.*2460
. . . g.62697
gtcaaataaaagacagtgaaattgacctga c.*2490
(downstream sequence)
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