(used for variant description)
(last modified January 18, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001034853.1 in the RPGR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009553.1, covering RPGR transcript NM_001034853.1.
(upstream sequence)
. . . . g.5048
gtttgttgacttccgggagcgcggttgtagttgatctccggagtttcg c.-121
. . . . . . g.5108
ccatgcggaacttgggggctttcgcggcccgcgtcggtgcggagtagctgctttagcccc c.-61
. . . . . . g.5168
gaccaaaccgtcctctacagcctcctggccccggcgcaggctgcccgtactgcccgtggc c.-1
. . | 02 . . . g.9043
ATGAGGGAGCCGGAAGAGCTGATGCCCG | ATTCGGGTGCTGTGTTTACATTTGGGAAAAGT c.60
M R E P E E L M P D | S G A V F T F G K S p.20
. . . . . . g.9103
AAATTTGCTGAAAATAATCCCGGTAAATTCTGGTTTAAAAATGATGTCCCTGTACATCTT c.120
K F A E N N P G K F W F K N D V P V H L p.40
. . . | 03 . . . g.9616
TCATGTGGAGATGAACATTCTGCTGTTGTTACCG | GAAATAATAAACTTTACATGTTTGGC c.180
S C G D E H S A V V T G | N N K L Y M F G p.60
. . . . . . g.9676
AGTAACAACTGGGGTCAGTTAGGATTAGGATCAAAGTCAGCCATCAGCAAGCCAACATGT c.240
S N N W G Q L G L G S K S A I S K P T C p.80
| 04. . . . . . g.11499
GTCAAAG | CTCTAAAACCTGAAAAAGTGAAATTAGCTGCCTGTGGAAGGAACCACACCCTG c.300
V K A | L K P E K V K L A A C G R N H T L p.100
. | 05 . . . . . g.13598
GTGTCAACAG | AAGGAGGCAATGTATATGCAACTGGTGGAAATAATGAAGGACAGTTGGGG c.360
V S T E | G G N V Y A T G G N N E G Q L G p.120
. . . . . . g.13658
CTTGGTGACACCGAAGAAAGAAACACTTTTCATGTAATTAGCTTTTTTACATCCGAGCAT c.420
L G D T E E R N T F H V I S F F T S E H p.140
. . . . | 06 . g.15081
AAGATTAAGCAGCTGTCTGCTGGATCTAATACTTCAGCTGCCCTAACTG | AGGATGGAAGA c.480
K I K Q L S A G S N T S A A L T E | D G R p.160
. . . . . . g.15141
CTTTTTATGTGGGGTGACAATTCCGAAGGGCAAATTGGTTTAAAAAATGTAAGTAATGTC c.540
L F M W G D N S E G Q I G L K N V S N V p.180
. . . . . . g.15201
TGTGTCCCTCAGCAAGTGACCATTGGGAAACCTGTCTCCTGGATCTCTTGTGGATATTAC c.600
C V P Q Q V T I G K P V S W I S C G Y Y p.200
. | 07 . . . . g.21803
CATTCAGCTTTTGTAACAA | CAGATGGTGAGCTATATGTGTTTGGAGAACCTGAGAATGGG c.660
H S A F V T T | D G E L Y V F G E P E N G p.220
. . . . . . g.21863
AAGTTAGGTCTTCCCAATCAGCTCCTGGGCAATCACAGAACACCCCAGCTGGTGTCTGAA c.720
K L G L P N Q L L G N H R T P Q L V S E p.240
. . . . . | 08 g.27747
ATTCCGGAGAAGGTGATCCAAGTAGCCTGTGGTGGAGAGCATACTGTGGTTCTCACGG | AG c.780
I P E K V I Q V A C G G E H T V V L T E | p.260
. . . . . . g.27807
AATGCTGTGTATACCTTTGGGCTGGGACAATTTGGTCAGCTGGGTCTTGGCACTTTTCTT c.840
N A V Y T F G L G Q F G Q L G L G T F L p.280
. . . . . . g.27867
TTTGAAACTTCAGAACCCAAAGTCATTGAGAATATTAGGGATCAAACAATAAGTTATATT c.900
F E T S E P K V I E N I R D Q T I S Y I p.300
. . . | 09 . . . g.31190
TCTTGTGGAGAAAATCACACAGCTTTGATAACAG | ATATCGGCCTTATGTATACTTTTGGA c.960
S C G E N H T A L I T D | I G L M Y T F G p.320
. . . . . . g.31250
GATGGTCGCCACGGAAAATTAGGACTTGGACTGGAGAATTTTACCAATCACTTCATTCCT c.1020
D G R H G K L G L G L E N F T N H F I P p.340
. . . | 10 . . g.33415
ACTTTGTGCTCTAATTTTTTGAGGTTTATAGTTAAATTG | GTTGCTTGTGGTGGATGTCAC c.1080
T L C S N F L R F I V K L | V A C G G C H p.360
. . . . . . g.33475
ATGGTAGTTTTTGCTGCTCCTCATCGTGGTGTGGCAAAAGAAATTGAATTCGATGAAATA c.1140
M V V F A A P H R G V A K E I E F D E I p.380
. . . . . . g.33535
AATGATACTTGCTTATCTGTGGCGACTTTTCTGCCGTATAGCAGTTTAACCTCAGGAAAT c.1200
N D T C L S V A T F L P Y S S L T S G N p.400
. . . . | 11 . . g.35098
GTACTGCAGAGGACTCTATCAGCACGTATGCGGCGAAGAGAGAGG | GAGAGGTCTCCAGAT c.1260
V L Q R T L S A R M R R R E R | E R S P D p.420
. . . . . . g.35158
TCTTTTTCAATGAGGAGAACACTACCTCCAATAGAAGGGACTCTTGGCCTTTCTGCTTGT c.1320
S F S M R R T L P P I E G T L G L S A C p.440
. . . . . . g.35218
TTTCTCCCCAATTCAGTCTTTCCACGATGTTCTGAGAGAAACCTCCAAGAGAGTGTCTTA c.1380
F L P N S V F P R C S E R N L Q E S V L p.460
. . . | 12 . . . g.41077
TCTGAACAGGACCTCATGCAGCCAGAGGAACCAG | ATTATTTGCTAGATGAAATGACCAAA c.1440
S E Q D L M Q P E E P D | Y L L D E M T K p.480
. . . . . . g.41137
GAAGCAGAGATAGATAATTCTTCAACTGTAGAAAGCCTTGGAGAAACTACTGATATCTTA c.1500
E A E I D N S S T V E S L G E T T D I L p.500
| 13 . . . . . . g.41565
AACATG | ACACACATCATGAGCCTGAATTCCAATGAAAAGTCATTAAAATTATCACCAGTT c.1560
N M | T H I M S L N S N E K S L K L S P V p.520
. | 14 . . . . . g.44542
CAGAAACAAAAG | AAACAACAAACAATTGGGGAACTGACGCAGGATACAGCTCTTACTGAA c.1620
Q K Q K | K Q Q T I G E L T Q D T A L T E p.540
. . . . . . g.44602
AACGATGATAGTGATGAATATGAAGAAATGTCAGAAATGAAAGAAGGGAAAGCATGTAAA c.1680
N D D S D E Y E E M S E M K E G K A C K p.560
. . . . . . g.44662
CAACATGTGTCACAAGGGATTTTCATGACGCAGCCAGCTACGACTATCGAAGCATTTTCA c.1740
Q H V S Q G I F M T Q P A T T I E A F S p.580
. | 15 . . . . . g.45337
GATGAGGAAGTAG | AGATCCCAGAGGAGAAGGAAGGAGCAGAGGATTCAAAAGGAAATGGA c.1800
D E E V E | I P E E K E G A E D S K G N G p.600
. . . . . . g.45397
ATAGAGGAGCAAGAGGTAGAAGCAAATGAGGAAAATGTGAAGGTGCATGGAGGAAGAAAG c.1860
I E E Q E V E A N E E N V K V H G G R K p.620
. . . . . . g.45457
GAGAAAACAGAGATCCTATCAGATGACCTTACAGACAAAGCAGAGGTGAGTGAAGGCAAG c.1920
E K T E I L S D D L T D K A E V S E G K p.640
. . . . . . g.45517
GCAAAATCAGTGGGAGAAGCAGAGGATGGGCCTGAAGGTAGAGGGGATGGAACCTGTGAG c.1980
A K S V G E A E D G P E G R G D G T C E p.660
. . . . . . g.45577
GAAGGTAGTTCAGGAGCAGAACACTGGCAAGATGAGGAGAGGGAGAAGGGGGAGAAAGAC c.2040
E G S S G A E H W Q D E E R E K G E K D p.680
. . . . . . g.45637
AAGGGTAGAGGAGAAATGGAGAGGCCAGGAGAGGGAGAGAAGGAACTAGCAGAGAAGGAA c.2100
K G R G E M E R P G E G E K E L A E K E p.700
. . . . . . g.45697
GAATGGAAGAAGAGGGATGGGGAAGAGCAGGAGCAAAAGGAGAGGGAGCAGGGCCATCAG c.2160
E W K K R D G E E Q E Q K E R E Q G H Q p.720
. . . . . . g.45757
AAGGAAAGAAACCAAGAGATGGAGGAGGGAGGGGAGGAGGAGCATGGAGAAGGAGAAGAA c.2220
K E R N Q E M E E G G E E E H G E G E E p.740
. . . . . . g.45817
GAGGAGGGAGACAGAGAAGAGGAAGAAGAGAAGGAGGGAGAAGGGAAAGAGGAAGGAGAA c.2280
E E G D R E E E E E K E G E G K E E G E p.760
. . . . . . g.45877
GGGGAAGAAGTGGAGGGAGAACGTGAAAAGGAGGAAGGAGAGAGGAAAAAGGAGGAAAGA c.2340
G E E V E G E R E K E E G E R K K E E R p.780
. . . . . . g.45937
GCGGGGAAGGAGGAGAAAGGAGAGGAAGAAGGAGACCAAGGAGAGGGGGAAGAGGAGGAA c.2400
A G K E E K G E E E G D Q G E G E E E E p.800
. . . . . . g.45997
ACAGAGGGGAGAGGGGAGGAAAAAGAGGAGGGAGGGGAAGTAGAGGGAGGGGAAGTAGAG c.2460
T E G R G E E K E E G G E V E G G E V E p.820
. . . . . . g.46057
GAGGGGAAAGGAGAGAGGGAAGAGGAAGAGGAGGAGGGTGAGGGGGAAGAGGAGGAAGGG c.2520
E G K G E R E E E E E E G E G E E E E G p.840
. . . . . . g.46117
GAGGGGGAAGAGGAGGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGAAAGGGGAGGAA c.2580
E G E E E E G E G E E E E G E G K G E E p.860
. . . . . . g.46177
GAAGGGGAAGAAGGAGAAGGGGAGGAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAG c.2640
E G E E G E G E E E G E E G E G E G E E p.880
. . . . . . g.46237
GAGGAAGGAGAAGGGGAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGA c.2700
E E G E G E G E E E G E G E G E E E E G p.900
. . . . . . g.46297
GAAGGGGAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGGAAA c.2760
E G E G E E E G E G E G E E E E G E G K p.920
. . . . . . g.46357
GGGGAGGAGGAAGGAGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAA c.2820
G E E E G E E G E G E G E E E E G E G E p.940
. . . . . . g.46417
GGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGAGGAG c.2880
G E D G E G E G E E E E G E W E G E E E p.960
. . . . . . g.46477
GAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAG c.2940
E G E G E G E E E G E G E G E E G E G E p.980
. . . . . . g.46537
GGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGGGAAGAAGAAGGGGAG c.3000
G E E E E G E G E G E E E E G E E E G E p.1000
. . . . . . g.46597
GAAGAAGGAGAGGGAGAGGAAGAAGGGGAGGGAGAAGGGGAGGAAGAAGAGGAAGGGGAA c.3060
E E G E G E E E G E G E G E E E E E G E p.1020
. . . . . . g.46657
GTGGAAGGGGAGGTGGAAGGGGAGGAAGGAGAGGGGGAAGGAGAGGAAGAGGAAGGAGAG c.3120
V E G E V E G E E G E G E G E E E E G E p.1040
. . . . . . g.46717
GAGGAAGGAGAAGAAAGGGAAAAGGAGGGGGAAGGAGAAGAAAACAGGAGGAACAGAGAA c.3180
E E G E E R E K E G E G E E N R R N R E p.1060
. . . . . . g.46777
GAGGAGGAGGAAGAAGAGGGGAAGTATCAGGAGACAGGCGAAGAAGAGAATGAAAGGCAG c.3240
E E E E E E G K Y Q E T G E E E N E R Q p.1080
. . . . . . g.46837
GATGGAGAGGAGTACAAAAAAGTGAGCAAAATAAAAGGATCTGTGAAATATGGCAAACAT c.3300
D G E E Y K K V S K I K G S V K Y G K H p.1100
. . . . . . g.46897
AAAACATATCAAAAAAAGTCAGTTACTAACACACAGGGAAATGGGAAAGAGCAGAGGTCC c.3360
K T Y Q K K S V T N T Q G N G K E Q R S p.1120
. . . . . . g.46957
AAAATGCCAGTCCAGTCAAAACGACTTTTAAAAAACGGGCCATCAGGTTCCAAAAAGTTC c.3420
K M P V Q S K R L L K N G P S G S K K F p.1140
. . . g.46996
TGGAATAATGTATTACCACATTACTTGGAATTGAAGTAA c.3459
W N N V L P H Y L E L K X p.1152
. . . . . . g.47056
caaaccttaaatgtgacccgattatggccagtcagacaatttaaatgccttgcatataac c.*60
. . . . . . g.47116
gggcactcattacgtgttattaaattgattttatgtcaattattttatgtgtagtaaaaa c.*120
. . . . . . g.47176
aaaaagcaactgatgcagctgtgttaaggagccaaagacaataggaggcactggtaaatt c.*180
. . . . . . g.47236
ttggcctctctcaaactaaaattttcgtgtatttcccccccaaattataaaaacataact c.*240
. . . . . . g.47296
agaaaatattaaaaggtcatatcagattattaacattatatattcattaaaggcagcttt c.*300
. . . . . . g.47356
aggaaacaggaatatactacaagagtgttttgtttgtgtatacaaatcattccattttta c.*360
. . . . . . g.47416
aatggcacagatgcttaagggctataaaaacttctaatttcttataaatatgttagcact c.*420
. . . . . . g.47476
ttttttaagttagtgattacagtttacctactgtatagaataattttctaataatggatg c.*480
. . . . . . g.47536
gtattctaaaactcaattgaggcattcacattttaaagaaagtattgtctttcacctttt c.*540
. . . . . . g.47596
atgtgttctttttgcaaaaatctacaaagtgacagctgtgttcagagcttagatcccaaa c.*600
. . . . . . g.47656
aacgtgatctcttttagttactatctgggcagatggtagtatatctaatgaaatggtgat c.*660
. . . . . . g.47716
taatttaaatgtataatctggaaatatgtaaaacttgaagtattttttgtccaggcaaag c.*720
. . . . . . g.47776
gtactcattgggcctcagtttcttcatctctaaaatggagtggatgagatgatgtgataa c.*780
. . . . . . g.47836
ctgcagtcccttctaactcttaaattcttttcattctcacagattcactctatcattatt c.*840
. . . . . . g.47896
gttattcatgtaagaaacgttttagggagaaaaattacactttaaaattaatttagtttt c.*900
. . . . . . g.47956
ctatacagttgttttctttactcttgaaaagttatgacagctttaacgtctcttgtcttc c.*960
. . . . . . g.48016
tgtaattttttatttctaaactcctatcatttccaagctttaactgtactttatcagagc c.*1020
. . . . . . g.48076
cttcatttctggtatgtgttatatgccctcaatgtattcactgactgttctgtaatttca c.*1080
. g.48087
gtttgtctgtt c.*1091
(downstream sequence)
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