(used for variant description)
(last modified February 2, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000321.2 in the RB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009009.1, covering RB1 transcript NM_000321.2.
(upstream sequence)
. . . . g.5046
gctcagttgccgggcgggggagggcgcgtccggtttttctcagggg c.-121
. . . . . . g.5106
acgttgaaattatttttgtaacgggagtcgggagaggacggggcgtgccccgacgtgcgc c.-61
. . . . . . g.5166
gcgcgtcgtcctccccggcgctcctccacagctcgctggctcccgccgcggaaaggcgtc c.-1
. . . . . . g.5226
ATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC c.60
M P P K T P R K T A A T A A A A A A E P p.20
. . . . . . g.5286
CCGGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAG c.120
P A P P P P P P P E E D P E Q D S G P E p.40
. | 02. . . . . g.8576
GACCTGCCTCTCGTCAG | GCTTGAGTTTGAAGAAACAGAAGAACCTGATTTTACTGCATTA c.180
D L P L V R | L E F E E T E E P D F T A L p.60
. . . . . . g.8636
TGTCAGAAATTAAAGATACCAGATCATGTCAGAGAGAGAGCTTGGTTAACTTGGGAGAAA c.240
C Q K L K I P D H V R E R A W L T W E K p.80
. . | 03 . . . . g.43888
GTTTCATCTGTGGATGGAGTATTG | GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGA c.300
V S S V D G V L | G G Y I Q K K K E L W G p.100
. . . . . . g.43948
ATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTA c.360
I C I F I A A V D L D E M S F T F T E L p.120
. . | 04 . . . . g.46373
CAGAAAAACATAGAAATCAG | TGTCCATAAATTCTTTAACTTACTAAAAGAAATTGATACC c.420
Q K N I E I S | V H K F F N L L K E I D T p.140
. . . . . . g.46433
AGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAGAAGTATGATGTATTGTTTGCA c.480
S T K V D N A M S R L L K K Y D V L F A p.160
. . | 05 . . . | 06 g.50210
CTCTTCAGCAAATTGGAAAG | GACATGTGAACTTATATATTTGACACAACCCAGCAGTTC | G c.540
L F S K L E R | T C E L I Y L T Q P S S S | p.180
. . . . . . g.50270
ATATCTACTGAAATAAATTCTGCATTGGTGCTAAAAGTTTCTTGGATCACATTTTTATTA c.600
I S T E I N S A L V L K V S W I T F L L p.200
| 07. . . . . . g.61323
GCTAAAG | GGGAAGTATTACAAATGGAAGATGATCTGGTGATTTCATTTCAGTTAATGCTA c.660
A K G | E V L Q M E D D L V I S F Q L M L p.220
. . . . . | 08 g.64070
TGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCATATA | AA c.720
C V L D Y F I K L S P P M L L K E P Y K | p.240
. . . . . . g.64130
ACAGCTGTTATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGT c.780
T A V I P I N G S P R T P R R G Q N R S p.260
. . . . . . g.64190
GCACGGATAGCAAAACAACTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAAAGAA c.840
A R I A K Q L E N D T R I I E V L C K E p.280
. . | 09 . . . . g.66186
CATGAATGTAATATAGATGAG | GTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATG c.900
H E C N I D E | V K N V Y F K N F I P F M p.300
. . . | 10 . . g.68768
AATTCTCTTGGACTTGTAACATCTAATGGACTTCCAGAG | GTTGAAAATCTTTCTAAACGA c.960
N S L G L V T S N G L P E | V E N L S K R p.320
. . . . . . g.68828
TACGAAGAAATTTATCTTAAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGAT c.1020
Y E E I Y L K N K D L D A R L F L D H D p.340
. . | 11 . . . g.69811
AAAACTCTTCAGACTGATTCTATAGACAG | TTTTGAAACACAGAGAACACCACGAAAAAGT c.1080
K T L Q T D S I D S | F E T Q R T P R K S p.360
. . . . | 12. . g.74671
AACCTTGATGAAGAGGTGAATGTAATTCCTCCACACACTCCAGTTAG | GACTGTTATGAAC c.1140
N L D E E V N V I P P H T P V R | T V M N p.380
. . . . . . g.74731
ACTATCCAACAATTAATGATGATTTTAAATTCAGCAAGTGATCAACCTTCAGAAAATCTG c.1200
T I Q Q L M M I L N S A S D Q P S E N L p.400
. | 13 . . . . . g.78216
ATTTCCTATTTTAAC | AACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAG c.1260
I S Y F N | N C T V N P K E S I L K R V K p.420
. . . . . . g.78276
GATATAGGATACATCTTTAAAGAGAAATTTGCTAAAGCTGTGGGACAGGGTTGTGTCGAA c.1320
D I G Y I F K E K F A K A V G Q G C V E p.440
. | 14 . . . . . g.80895
ATTGGATCACAG | CGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATG c.1380
I G S Q | R Y K L G V R L Y Y R V M E S M p.460
| 15 . . . | 16 . . g.81437
CTTAAATCA | GAAGAAGAACGATTATCCATTCAAAATTTTAG | CAAACTTCTGAATGACAAC c.1440
L K S | E E E R L S I Q N F S | K L L N D N p.480
. . . . . | 17 g.82502
ATTTTTCATATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCACATATAGCA | GA c.1500
I F H M S L L A C A L E V V M A T Y S R | p.500
. . . . . . g.82562
AGTACATCTCAGAATCTTGATTCTGGAACAGATTTGTCTTTCCCATGGATTCTGAATGTG c.1560
S T S Q N L D S G T D L S F P W I L N V p.520
. . . . . . g.82622
CTTAATTTAAAAGCCTTTGATTTTTACAAAGTGATCGAAAGTTTTATCAAAGCAGAAGGC c.1620
L N L K A F D F Y K V I E S F I K A E G p.540
. . . . . . g.82682
AACTTGACAAGAGAAATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCC c.1680
N L T R E M I K H L E R C E H R I M E S p.560
. | 18 . . . . . g.154291
CTTGCATGGCTCTCA | GATTCACCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAA c.1740
L A W L S | D S P L F D L I K Q S K D R E p.580
. . . . . . g.154351
GGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAATAATCAC c.1800
G P T D H L E S A C P L N L P L Q N N H p.600
. | 19 . . . . . g.157503
ACTGCAGCAGATAT | GTATCTTTCTCCTGTAAGATCTCCAAAGAAAAAAGGTTCAACTACG c.1860
T A A D M | Y L S P V R S P K K K G S T T p.620
. . . . . . g.157563
CGTGTAAATTCTACTGCAAATGCAGAGACACAAGCAACCTCAGCCTTCCAGACCCAGAAG c.1920
R V N S T A N A E T Q A T S A F Q T Q K p.640
. . . . | 20 . . g.160961
CCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAAAAG | TGTATCGGCTAGCCTATCTC c.1980
P L K S T S L S L F Y K K V | Y R L A Y L p.660
. . . . . . g.161021
CGGCTAAATACACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACATATCATC c.2040
R L N T L C E R L L S E H P E L E H I I p.680
. . . . . . g.161081
TGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAACTCATGAGAGACAGGCATTTG c.2100
W T L F Q H T L Q N E Y E L M R D R H L p.700
| 21 . . . . . . g.165038
GACCAA | ATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGACCTTAAA c.2160
D Q | I M M C S M Y G I C K V K N I D L K p.720
. . . . . | 22 . g.166260
TTCAAAATCATTGTAACAGCATACAAGGATCTTCCTCATGCTGTTCAGGAG | ACATTCAAA c.2220
F K I I V T A Y K D L P H A V Q E | T F K p.740
. . . . . . g.166320
CGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTATAACTCGGTCTTC c.2280
R V L I K E E E Y D S I I V F Y N S V F p.760
. . . . | 23 . . g.166473
ATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGG | CCCCCTACCTTGTCA c.2340
M Q R L K T N I L Q Y A S T R | P P T L S p.780
. . . . . . g.166533
CCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACCCTTACGGATTCCT c.2400
P I P H I P R S P Y K F P S S P L R I P p.800
. . . . . . g.166593
GGAGGGAACATCTATATTTCACCCCTGAAGAGTCCATATAAAATTTCAGAAGGTCTGCCA c.2460
G G N I Y I S P L K S P Y K I S E G L P p.820
. . | 24 . . . g.174644
ACACCAACAAAAATGACTCCAAGATCAAG | AATCTTAGTATCAATTGGTGAATCATTCGGG c.2520
T P T K M T P R S R | I L V S I G E S F G p.840
| 25 . . . . . . g.178014
| ACTTCTGAGAAGTTCCAGAAAATAAATCAGATGGTATGTAACAGCGACCGTGTGCTCAAA c.2580
| T S E K F Q K I N Q M V C N S D R V L K p.860
. . . . . . g.178074
AGAAGTGCTGAAGGAAGCAACCCTCCTAAACCACTGAAAAAACTACGCTTTGATATTGAA c.2640
R S A E G S N P P K P L K K L R F D I E p.880
. . | 26 . . . . g.178645
GGATCAGATGAAGCAGATGGAAG | TAAACATCTCCCAGGAGAGTCCAAATTTCAGCAGAAA c.2700
G S D E A D G S | K H L P G E S K F Q Q K p.900
. | 27 . . . . . g.181298
CTGGCAGAAATGA | CTTCTACTCGAACACGAATGCAAAAGCAGAAAATGAATGATAGCATG c.2760
L A E M T | S T R T R M Q K Q K M N D S M p.920
. . g.181325
GATACCTCAAACAAGGAAGAGAAATGA c.2787
D T S N K E E K X p.928
. . . . . . g.181385
ggatctcaggaccttggtggacactgtgtacacctctggattcattgtctctcacagatg c.*60
. . . . . . g.181445
tgactgtataactttcccaggttctgtttatggccacatttaatatcttcagctcttttt c.*120
. . . . . . g.181505
gtggatataaaatgtgcagatgcaattgtttgggtgattcctaagccacttgaaatgtta c.*180
. . . . . . g.181565
gtcattgttatttatacaagattgaaaatcttgtgtaaatcctgccatttaaaaagttgt c.*240
. . . . . . g.181625
agcagattgtttcctcttccaaagtaaaattgctgtgctttatggatagtaagaatggcc c.*300
. . . . . . g.181685
ctagagtgggagtcctgataacccaggcctgtctgactactttgccttcttttgtagcat c.*360
. . . . . . g.181745
ataggtgatgtttgctcttgtttttattaatttatatgtatatttttttaatttaacatg c.*420
. . . . . . g.181805
aacacccttagaaaatgtgtcctatctatcttccaaatgcaatttgattgactgcccatt c.*480
. . . . . . g.181865
caccaaaattatcctgaactcttctgcaaaaatggatattattagaaattagaaaaaaat c.*540
. . . . . . g.181925
tactaattttacacattagattttattttactattggaatctgatatactgtgtgcttgt c.*600
. . . . . . g.181985
tttataaaattttgcttttaattaaataaaagctggaagcaaagtataaccatatgatac c.*660
. . . . . . g.182045
tatcatactactgaaacagatttcatacctcagaatgtaaaagaacttactgattatttt c.*720
. . . . . . g.182105
cttcatccaacttatgtttttaaatgaggattattgatagtactcttggtttttatacca c.*780
. . . . . . g.182165
ttcagatcactgaatttataaagtacccatctagtacttgaaaaagtaaagtgttctgcc c.*840
. . . . . . g.182225
agatcttaggtatagaggaccctaacacagtatatcccaagtgcactttctaatgtttct c.*900
. . . . . . g.182285
gggtcctgaagaattaagatacaaattaattttactccataaacagactgttaattatag c.*960
. . . . . . g.182345
gagccttaatttttttttcatagagatttgtctaattgcatctcaaaattattctgccct c.*1020
. . . . . . g.182405
ccttaatttgggaaggtttgtgttttctctggaatggtacatgtcttccatgtatctttt c.*1080
. . . . . . g.182465
gaactggcaattgtctatttatcttttatttttttaagtcagtatggtctaacactggca c.*1140
. . . . . . g.182525
tgttcaaagccacattatttctagtccaaaattacaagtaatcaagggtcattatgggtt c.*1200
. . . . . . g.182585
aggcattaatgtttctatctgattttgtgcaaaagcttcaaattaaaacagctgcattag c.*1260
. . . . . . g.182645
aaaaagaggcgcttctcccctcccctacacctaaaggtgtatttaaactatcttgtgtga c.*1320
. . . . . . g.182705
ttaacttatttagagatgctgtaacttaaaataggggatatttaaggtagcttcagctag c.*1380
. . . . . . g.182765
cttttaggaaaatcactttgtctaactcagaattatttttaaaaagaaatctggtcttgt c.*1440
. . . . . . g.182825
tagaaaacaaaattttattttgtgctcatttaagtttcaaacttactattttgacagtta c.*1500
. . . . . . g.182885
ttttgataacaatgacactagaaaacttgactccatttcatcattgtttctgcatgaata c.*1560
. . . . . . g.182945
tcatacaaatcagttagtttttaggtcaagggcttactatttctgggtcttttgctacta c.*1620
. . . . . . g.183005
agttcacattagaattagtgccagaattttaggaacttcagagatcgtgtattgagattt c.*1680
. . . . . . g.183065
cttaaataatgcttcagatattattgctttattgcttttttgtattggttaaaactgtac c.*1740
. . . . . . g.183125
atttaaaattgctatgttactattttctacaattaatagtttgtctattttaaaataaat c.*1800
. g.183144
tagttgttaagagtcttaa c.*1819
(downstream sequence)
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