(used for variant description)
(last modified November 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_014781.4 in the RB1CC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering RB1CC1 transcript NM_014781.4.
(upstream sequence)
. g.5018
gtttcccggcatgcgccg c.-541
. . . . . . g.5078
cggaggaagagacggagtcgacaataacaaaccaagccgcggcggtgtccgcggccctgc c.-481
. . . . . . g.5138
cgagccctcggcgttgcctcagaatcccccagtcgcctgggcccctcggctctgacaggc c.-421
. . . . . . g.5198
cgcggccttctgtcccccggccccagacccagagccgaggggcctgctcgcgtccttgtc c.-361
. . . . . . g.5258
cgcccggacccctccctgcctcctagagttcggggccgcggcgggcgggcgcccgggacg c.-301
. . . . . . g.5318
ccggcggttgtgtcggcttagcggtgccgaatgggcggttggtaaccgctgccgaggact c.-241
. . . . . . g.5378
aggcggcggcggaagatggtgccgggggtcgctggctctgctgctgccgccggcgaagga c.-181
. . | 02 . . . . g.32545
ggaggcgttgccgg | ttttctgagtttaaccagtaatgccattcagttgccaatctcaagc c.-121
. . . . . . g.32605
aaagcaaacataagccagttttaatctactttttaagaaaagtggtagtccttttcacag c.-61
. | 03 . . . . g.33997
tgcctgacg | taactgtatcagagggtgaggtataagctcacagaattcagataaatcatc c.-1
. . . . . . g.34057
ATGAAGTTATATGTATTTCTGGTTAACACTGGAACTACTCTAACATTTGACACTGAACTT c.60
M K L Y V F L V N T G T T L T F D T E L p.20
. | 04 . . . . . g.35502
ACAGTGCAAAC | TGTGGCAGACCTTAAGCATGCCATTCAAAGCAAATACAAGATTGCTATT c.120
T V Q T | V A D L K H A I Q S K Y K I A I p.40
. . . . . . g.35562
CAACACCAGGTGCTGGTGGTCAATGGAGGAGAATGCATGGCTGCAGATCGAAGAGTGTGT c.180
Q H Q V L V V N G G E C M A A D R R V C p.60
. | 05 . . . . g.35789
ACCTACAGTGCTGGGACG | GATACAAATCCAATTTTTCTTTTTAACAAAGAAATGATCTTA c.240
T Y S A G T | D T N P I F L F N K E M I L p.80
. . . . . . g.35849
TGTGATCGTCCACCTGCTATTCCTAAAACTACCTTTTCGACAGAAAATGACATGGAAATA c.300
C D R P P A I P K T T F S T E N D M E I p.100
. . . . . . g.35909
AAAGTTGAAGAATCTCTTATGATGCCTGCAGTTTTTCATACTGTTGCTTCAAGGACACAG c.360
K V E E S L M M P A V F H T V A S R T Q p.120
| 06 . . . . . g.42946
CTTGCATTG | GAAATGTATGAAGTTGCCAAGAAACTTTGTTCTTTTTGTGAAGGTCTTGTA c.420
L A L | E M Y E V A K K L C S F C E G L V p.140
. . . . . . g.43006
CATGATGAACATCTTCAACACCAAGGCTGGGCTGCAATCATGGCCAACCTGGAGGACTGT c.480
H D E H L Q H Q G W A A I M A N L E D C p.160
. . . . . . g.43066
TCAAATTCATACCAAAAGCTACTTTTCAAGTTTGAAAGTATTTATTCAAATTATCTGCAG c.540
S N S Y Q K L L F K F E S I Y S N Y L Q p.180
. . . | 07 . . . g.45220
TCCATAGAAGACATCAAGTTAAAACTTACTCA | TTTAGGAACTGCAGTTTCAGTAATGGCC c.600
S I E D I K L K L T H | L G T A V S V M A p.200
. . . . . . g.45280
AAGATTCCACTGTTGGAGTGCCTAACCAGACATAGTTACAGAGAATGTTTGGGAAGACTG c.660
K I P L L E C L T R H S Y R E C L G R L p.220
. . . . . . g.45340
GATTCTTTACCTGAACATGAAGACTCAGAAAAAGCTGAGATGAAAAGATCCACTGAACTG c.720
D S L P E H E D S E K A E M K R S T E L p.240
. . . . . . g.45400
GTGCTCTCTCCTGATATGCCTAGAACAACTAACGAATCTTTGTTAACCTCATTTCCCAAG c.780
V L S P D M P R T T N E S L L T S F P K p.260
. . . . . . g.45460
TCAGTGGAACATGTGTCCCCAGATACCGCAGATGCTGAAAGTGGCAAAGAAATTAGGGAA c.840
S V E H V S P D T A D A E S G K E I R E p.280
. . . . . . g.45520
TCTTGTCAAAGTACTGTTCATCAGCAAGATGAAACTACGATTGACACTAAAGATGGTGAT c.900
S C Q S T V H Q Q D E T T I D T K D G D p.300
. . . . . . g.45580
CTGCCCTTTTTTAATGTCTCTTTGTTAGACTGGATAAATGTTCAAGATAGACCTAATGAT c.960
L P F F N V S L L D W I N V Q D R P N D p.320
. . . . | 08 . . g.51293
GTGGAATCTTTGGTCAGGAAGTGCTTTGATTCTATGAGCAGG | CTTGATCCAAGGATTATT c.1020
V E S L V R K C F D S M S R | L D P R I I p.340
. . . . . . g.51353
CGACCATTTATAGCAGAATGCCGTCAAACTATTGCCAAACTTGATAATCAGAATATGAAA c.1080
R P F I A E C R Q T I A K L D N Q N M K p.360
. . . . . . g.51413
GCCATTAAAGGACTTGAAGATCGGCTCTACGCCCTGGACCAGATGATTGCTAGCTGTGGC c.1140
A I K G L E D R L Y A L D Q M I A S C G p.380
. . . | 09 . . . g.57774
CGACTGGTGAATGAACAGAAAGAGCTTGCTCAG | GGATTTTTAGCTAATCAGAAGAGAGCT c.1200
R L V N E Q K E L A Q | G F L A N Q K R A p.400
. . . . . . g.57834
GAAAACTTAAAGGATGCATCTGTATTACCTGATTTATGCCTGAGTCACGCAAATCAGTTG c.1260
E N L K D A S V L P D L C L S H A N Q L p.420
. . . . . . g.57894
ATGATTATGTTGCAAAATCATAGAAAACTGTTAGATATTAAGCAGAAGTGTACCACTGCC c.1320
M I M L Q N H R K L L D I K Q K C T T A p.440
. . . | 10 . . g.58207
AAACAAGAACTAGCAAATAACCTACATGTCAGACTGAA | GTGGTGTTGCTTTGTAATGCTT c.1380
K Q E L A N N L H V R L K | W C C F V M L p.460
. . . . . . g.58267
CATGCTGATCAAGATGGAGAGAAGTTACAAGCTTTGCTCCGCCTCGTAATAGAGCTGTTA c.1440
H A D Q D G E K L Q A L L R L V I E L L p.480
. . . . . . g.58327
GAAAGAGTCAAAATTGTTGAAGCTCTTAGTACAGTTCCTCAGATGTACTGCTTAGCTGTT c.1500
E R V K I V E A L S T V P Q M Y C L A V p.500
. . . . | 11 . . g.58474
GTTGAGGTTGTAAGAAGAAAAATGTTCATAAAACACTACAGGGAG | TGGGCTGGTGCTTTA c.1560
V E V V R R K M F I K H Y R E | W A G A L p.520
. . . . . . g.58534
GTCAAAGATGGAAAGAGATTATATGAAGCAGAAAAATCAAAAAGGGAATCCTTTGGGAAA c.1620
V K D G K R L Y E A E K S K R E S F G K p.540
| 12. . . . . . g.58862
TTATTTA | GGAAGTCTTTTTTAAGAAATCGTCTGTTTAGGGGACTGGACTCCTGGCCCCCT c.1680
L F R | K S F L R N R L F R G L D S W P P p.560
| 13 . . . . . g.60541
TCCTTTTGT | ACTCAAAAGCCTCGAAAGTTTGACTGTGAACTTCCAGATATTTCATTAAAA c.1740
S F C | T Q K P R K F D C E L P D I S L K p.580
. . . . . | 14 . g.61349
GATTTACAGTTTCTGCAATCATTTTGTCCTTCGGAAGTTCAGCCATTCCTCAG | GGTTCCC c.1800
D L Q F L Q S F C P S E V Q P F L R | V P p.600
. . . . . . g.61409
TTACTTTGTGACTTTGAACCTCTACACCAGCATGTACTTGCTCTACATAATTTGGTAAAA c.1860
L L C D F E P L H Q H V L A L H N L V K p.620
. . . . . . g.61469
GCAGCACAAAGTTTGGATGAAATGTCACAGACCATTACAGATCTACTGAGTGAACAAAAG c.1920
A A Q S L D E M S Q T I T D L L S E Q K p.640
| 15 . . . . . . g.61618
| GCATCTGTGAGTCAGACATCCCCACAGTCTGCTTCTTCACCAAGGATGGAAAGTACAGCA c.1980
| A S V S Q T S P Q S A S S P R M E S T A p.660
. . . . . . g.61678
GGAATTACAACTACTACCTCACCGAGAACTCCTCCACCACTGACTGTTCAGGATCCCTTA c.2040
G I T T T T S P R T P P P L T V Q D P L p.680
. . . . . . g.61738
TGTCCTGCAGTTTGTCCCTTAGAAGAATTATCTCCAGATAGTATTGATGCACATACGTTT c.2100
C P A V C P L E E L S P D S I D A H T F p.700
. . . . . . g.61798
GATTTTGAAACTATTCCCCATCCAAACATAGAACAGACTATTCACCAAGTTTCTTTAGAC c.2160
D F E T I P H P N I E Q T I H Q V S L D p.720
. . . . . . g.61858
TTGGATTCATTAGCAGAAAGTCCTGAATCAGATTTTATGTCTGCTGTGAATGAGTTTGTA c.2220
L D S L A E S P E S D F M S A V N E F V p.740
. . . . . . g.61918
ATAGAAGAAAATTTGTCGTCTCCTAATCCTATAAGTGATCCACAAAGCCCAGAAATGATG c.2280
I E E N L S S P N P I S D P Q S P E M M p.760
. . . . . . g.61978
GTGGAATCACTTTATTCATCAGTTATCAATGCGATAGACAGTAGACGAATGCAGGATACA c.2340
V E S L Y S S V I N A I D S R R M Q D T p.780
. . . . . . g.62038
AATGTATGTGGTAAGGAGGATTTTGGAGATCATACTTCTCTGAATGTCCAGTTGGAAAGA c.2400
N V C G K E D F G D H T S L N V Q L E R p.800
. . . . . . g.62098
TGTAGAGTTGTTGCCCAAGACTCTCACTTCAGTATACAAACCATTAAGGAAGACCTTTGC c.2460
C R V V A Q D S H F S I Q T I K E D L C p.820
. . . . . . g.62158
CACTTTAGAACATTTGTACAAAAAGAACAGTGTGACTTCTCAAATTCATTAAAATGTACA c.2520
H F R T F V Q K E Q C D F S N S L K C T p.840
. . . . . . g.62218
GCAGTAGAAATAAGAAACATTATTGAAAAAGTAAAATGTTCTCTGGAAATAACACTAAAA c.2580
A V E I R N I I E K V K C S L E I T L K p.860
. . . . . . g.62278
GAAAAACATCAAAAAGAACTACTGTCTTTAAAAAATGAATATGAAGGTAAACTTGACGGA c.2640
E K H Q K E L L S L K N E Y E G K L D G p.880
. . . . . . g.62338
CTAATAAAGGAAACTGAAGAGAATGAAAACAAAATTAAAAAATTGAAGGGAGAGTTAGTA c.2700
L I K E T E E N E N K I K K L K G E L V p.900
. . . . . . g.62398
TGCCTTGAGGAGGTTTTACAAAATAAAGATAATGAATTTGCTTTGGTTAAACATGAAAAA c.2760
C L E E V L Q N K D N E F A L V K H E K p.920
. . . . . . g.62458
GAAGCTGTAATCTGCCTGCAGAATGAAAAGGATCAGAAGTTGTTAGAGATGGAAAATATA c.2820
E A V I C L Q N E K D Q K L L E M E N I p.940
. . . . . . g.62518
ATGCACTCTCAAAATTGTGAAATTAAAGAACTGAAGCAGTCACGAGAAATAGTGTTAGAA c.2880
M H S Q N C E I K E L K Q S R E I V L E p.960
. . . . . . g.62578
GACTTAAAAAAGCTCCATGTTGAAAATGATGAGAAGTTACAGTTATTGAGGGCAGAACTT c.2940
D L K K L H V E N D E K L Q L L R A E L p.980
. . . . . . g.62638
CAGTCCTTGGAGCAAAGTCATCTAAAGGAATTAGAGGACACACTTCAGGTTAGGCACATA c.3000
Q S L E Q S H L K E L E D T L Q V R H I p.1000
. . . . . . g.62698
CAAGAGTTTGAGAAGGTTATGACAGACCACAGAGTTTCTTTGGAGGAATTAAAAAAGGAA c.3060
Q E F E K V M T D H R V S L E E L K K E p.1020
. . . . . . g.62758
AACCAACAAATAATTAATCAAATACAAGAATCTCATGCTGAAATTATCCAGGAAAAAGAA c.3120
N Q Q I I N Q I Q E S H A E I I Q E K E p.1040
. . . . . . g.62818
AAACAGTTACAGGAATTAAAACTCAAGGTTTCTGATTTGTCAGACACGAGATGCAAGTTA c.3180
K Q L Q E L K L K V S D L S D T R C K L p.1060
. . . . . . g.62878
GAGGTTGAACTTGCGTTGAAGGAAGCAGAAACTGATGAAATAAAAATTTTGCTGGAAGAA c.3240
E V E L A L K E A E T D E I K I L L E E p.1080
. . . . . . g.62938
AGCAGAGCCCAGCAGAAGGAGACCTTGAAATCTCTTCTTGAACAAGAGACAGAAAATTTG c.3300
S R A Q Q K E T L K S L L E Q E T E N L p.1100
. . . . . . g.62998
AGAACAGAAATTAGTAAACTCAACCAAAAGATTCAGGATAATAATGAAAATTATCAGGTG c.3360
R T E I S K L N Q K I Q D N N E N Y Q V p.1120
. . . . . . g.63058
GGCTTAGCAGAGCTAAGAACTTTAATGACAATTGAAAAAGATCAGTGTATTTCCGAGTTA c.3420
G L A E L R T L M T I E K D Q C I S E L p.1140
. . . . . . g.63118
ATTAGTAGACATGAAGAAGAATCTAATATACTTAAAGCTGAATTAAACAAAGTAACATCT c.3480
I S R H E E E S N I L K A E L N K V T S p.1160
. . . . . . g.63178
TTGCATAACCAAGCATTTGAAATAGAAAAAAACCTAAAAGAACAAATAATTGAACTGCAG c.3540
L H N Q A F E I E K N L K E Q I I E L Q p.1180
. . . . . . g.63238
AGTAAATTGGATTCAGAATTGAGTGCTCTTGAAAGACAAAAAGATGAAAAAATTACCCAA c.3600
S K L D S E L S A L E R Q K D E K I T Q p.1200
. . . . . . g.63298
CAAGAAGAGAAATACGAAGCTATTATCCAGAACCTTGAGAAAGACAGACAAAAATTGGTC c.3660
Q E E K Y E A I I Q N L E K D R Q K L V p.1220
. . . . . . g.63358
AGCAGCCAGGAGCAAGACAGAGAACAGTTAATTCAGAAGCTTAATTGTGAAAAAGATGAA c.3720
S S Q E Q D R E Q L I Q K L N C E K D E p.1240
. . . . . . g.63418
GCTATTCAGACTGCCCTAAAAGAATTTAAATTGGAGAGAGAAGTTGTTGAGAAAGAGTTA c.3780
A I Q T A L K E F K L E R E V V E K E L p.1260
. . . . | 16 . . g.73618
TTAGAAAAAGTTAAACATCTTGAGAATCAAATAGCAAAAAG | TCCTGCCATTGACTCTACC c.3840
L E K V K H L E N Q I A K S | P A I D S T p.1280
. . . . . . g.73678
AGAGGAGATTCTTCAAGCTTAGTTGCTGAACTTCAAGAAAAGCTTCAGGAAGAAAAAGCT c.3900
R G D S S S L V A E L Q E K L Q E E K A p.1300
. . . . . . g.73738
AAGTTTCTAGAACAACTTGAAGAGCAAGAAAAAAGAAAGAATGAAGAAATGCAAAATGTT c.3960
K F L E Q L E E Q E K R K N E E M Q N V p.1320
. . | 17. . . . g.76687
CGAACATCTTTGATTGCGGAACAACAG | ACCAATTTTAACACTGTTTTAACAAGAGAGAAA c.4020
R T S L I A E Q Q | T N F N T V L T R E K p.1340
. . . . . . g.76747
ATGAGAAAAGAAAACATAATAAATGATCTTAGTGATAAGTTGAAAAGTACAATGCAGCAA c.4080
M R K E N I I N D L S D K L K S T M Q Q p.1360
. | 18 . . . . . g.76919
CAAGAACGGGATAAAG | ATTTGATAGAGTCACTTTCTGAAGATCGAGCTCGTTTGCTTGAG c.4140
Q E R D K D | L I E S L S E D R A R L L E p.1380
. . . . . . g.76979
GAAAAGAAAAAGCTTGAAGAAGAAGTCAGTAAGTTGCGTAGTAGCAGTTTTGTTCCTTCA c.4200
E K K K L E E E V S K L R S S S F V P S p.1400
. . . . . . g.77039
CCATATGTAGCTACAGCCCCAGAACTTTATGGAGCTTGTGCACCTGAACTCCCAGGTGAA c.4260
P Y V A T A P E L Y G A C A P E L P G E p.1420
. . . . . . g.77099
TCAGATAGATCCGCTGTGGAAACAGCAGATGAAGGAAGAGTGGATTCAGCAATGGAGACA c.4320
S D R S A V E T A D E G R V D S A M E T p.1440
. | 19. . . . . g.83440
AGCATGATGTCTGTACA | AGAAAATATTCATATGTTGTCTGAAGAAAAACAGCGGATAATG c.4380
S M M S V Q | E N I H M L S E E K Q R I M p.1460
. | 20 . . . . . g.84546
CTGTTAGAACGA | ACATTGCAATTGAAAGAAGAAGAAAATAAACGGTTAAATCAAAGACTG c.4440
L L E R | T L Q L K E E E N K R L N Q R L p.1480
| 21 . . . . . | 22 g.91299
| ATGTCTCAGAGCATGTCTTCAGTATCTTCAAGGCATTCTGAAAAGATAGCTATTAGAGA | T c.4500
| M S Q S M S S V S S R H S E K I A I R D | p.1500
. . . . . . g.91359
TTTCAGGTGGGAGATTTGGTACTCATCATCCTAGACGAACGCCATGACAATTATGTGTTA c.4560
F Q V G D L V L I I L D E R H D N Y V L p.1520
. . . . . . g.91419
TTTACTGTTAGTCCTACTTTATATTTTCTACATTCAGAGTCTCTACCTGCCCTGGATCTC c.4620
F T V S P T L Y F L H S E S L P A L D L p.1540
. | 23 . . . . . g.94723
AAACCAGGTGAGGGTG | CTTCAGGTGCATCTAGAAGACCCTGGGTACTTGGAAAAGTAATG c.4680
K P G E G A | S G A S R R P W V L G K V M p.1560
. . | 24. . . . g.95640
GAAAAAGAATACTGTCAAGCCAAAAAG | GCACAAAACAGATTTAAAGTTCCTTTGGGGACA c.4740
E K E Y C Q A K K | A Q N R F K V P L G T p.1580
. . . . g.95685
AAGTTTTACAGAGTGAAAGCCGTATCATGGAATAAGAAAGTATAA c.4785
K F Y R V K A V S W N K K V X p.1594
. . . . . . g.95745
cttatggacaaaattaatacattctatgacatttttttctgatttgtcctgcagtgctca c.*60
. . . . . . g.95805
ttcatcactccaaaaacagcaggccatctttttatgcaaaagtcagcgtgacaatatact c.*120
. . . . . . g.95865
tcactggtgtacatcgtttactttttaactggcttcattttaggaataataaattcatca c.*180
. . . . . . g.95925
gaatccttggctgaattaaaatggtttttgttttttggtttttttttttacccagacaac c.*240
. . . . . . g.95985
tctagaaatgcggaccaaactacttcattttctcaaagggcataccttgtgcattgtggc c.*300
. . . . . . g.96045
ttatgatgagccatattaattgcctgttaaatatacactagcttgaacttagatgttaaa c.*360
. . . . . . g.96105
tgttattattaccagcatttgtccttttgtgaaatcagtatcagaatacttgcactcttt c.*420
. . . . . . g.96165
aacacattctttataaaatgtataaattattcagaactatttaaaataaagaggagtgtt c.*480
. . . . . . g.96225
attgcatgctgataatcattttgagtttgcctcagtagatactaaagcaaattgtttcag c.*540
. . . . . . g.96285
tttttttaaatgccctttgatgtttcaaaaaaaaaaaggaactgtaatttgattgactga c.*600
. . . . . . g.96345
ttttaagatcagccataagtaatcagcaatcttcaaaagcactttcagtggattggtcat c.*660
. . . . . . g.96405
ctgggttctaaagggaagagtctgtgctactaaccatttcaaatgcagactcaaaccttc c.*720
. . . . . . g.96465
ccaacatctttatgactctagaataatcatattgatgaaatcgtaattcatggttgagtt c.*780
. . . . . . g.96525
tcagaacaaaagatattcattgcacattaaccatttagaggtcatttaaataacaaaata c.*840
. . . . . . g.96585
ttgtattgtaaaagaactgtacaattttaaaacaataaagatttgaacctgtaaatgtgt c.*900
. . . . . . g.96645
gtgccttttaaagaaggatacatttttaatatatttgagtgattgctgggaagtgtgaaa c.*960
. . . . . . g.96705
atattgttatgtatcatatcaaagagaaacatgtttattacaaaaatgttctttaactat c.*1020
. . . . . . g.96765
atactatgtaacagggtaaacagtgttatgtagaatagaattgtgtaaactagatcttta c.*1080
. . . . . . g.96825
gagaagttgccattgagcaaagttatttaaatgagttagttgagttggatgagaattgtt c.*1140
. . . . . . g.96885
tgaggtttgttgctagagaacaataataaaataattctttttcagaaaatatttaatttc c.*1200
. . . . . . g.96945
ttcataaaaataagttaaatatttttttaaatatgtatatctaatagtacaaaatggaat c.*1260
. . . . . . g.97005
aaacatcatagtgtatagaaaactgaatttgacaagttaatgaataaatgaacaaatgat c.*1320
g.97009
ttca c.*1324
(downstream sequence)
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