(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015272.2 in the RPGRIP1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008991.2, covering RPGRIP1L transcript NM_015272.2.
(upstream sequence)
g.5004
gccc c.-61
. . . . . . | 02 g.8136
gccacgctgtcggcgctatagcaacggtagctagctgcagggccagtggcacg | ctaggcc c.-1
. . . . . . g.8196
ATGTCTGGTCCAACTGATGAGACTGCAGGAGACTTGCCTGTGAAAGATACAGGTCTAAAC c.60
M S G P T D E T A G D L P V K D T G L N p.20
. . | 03 . . . . g.12599
CTCTTTGGAATGGGAGGGTTACAAG | AAACTTCAACAACACGGACAATGAAGTCTCGCCAG c.120
L F G M G G L Q E | T S T T R T M K S R Q p.40
. . . . . . g.12659
GCAGTGTCACGTGTCAGTCGTGAGGAACTGGAAGACAGATTTTTGCGTTTGCATGATGAG c.180
A V S R V S R E E L E D R F L R L H D E p.60
. . . . . | 04 . g.16505
AACATTTTACTTAAACAGCATGCCCGCAAGCAGGAGGATAAAATTAAAAG | AATGGCCACC c.240
N I L L K Q H A R K Q E D K I K R | M A T p.80
. . . . . . g.16565
AAGTTAATACGGCTAGTTAATGACAAGAAAAGATATGAGCGGGTTGGTGGCGGCCCCAAG c.300
K L I R L V N D K K R Y E R V G G G P K p.100
. . . . . . g.16625
CGGCTGGGACGAGATGTGGAAATGGAAGAAATGATTGAGCAGCTGCAAGAGAAAGTTCAT c.360
R L G R D V E M E E M I E Q L Q E K V H p.120
. . . . . . g.16685
GAGCTTGAAAAACAAAATGAAACCCTCAAAAACAGACTGATTTCAGCCAAACAGCAACTT c.420
E L E K Q N E T L K N R L I S A K Q Q L p.140
. . . . . . g.16745
CAAACCCAGGGTTACAGGCAAACTCCATACAATAATGTACAATCTCGTATTAACACTGGG c.480
Q T Q G Y R Q T P Y N N V Q S R I N T G p.160
. . . . | 05 . g.20905
CGTAGAAAAGCAAATGAAAATGCTGGTTTACAGGAATGCCCCAGGAAAG | GTATAAAATTC c.540
R R K A N E N A G L Q E C P R K G | I K F p.180
. . . . . . g.20965
CAAGATGCAGATGTAGCAGAAACTCCACATCCCATGTTTACAAAATATGGCAACAGTTTA c.600
Q D A D V A E T P H P M F T K Y G N S L p.200
. . . | 06 . . . g.22311
CTTGAAGAAGCCAGAGGAGAAATAAGAAATTT | AGAAAACGTTATTCAGTCACAAAGAGGC c.660
L E E A R G E I R N L | E N V I Q S Q R G p.220
. . . . . . g.22371
CAGATAGAGGAGTTAGAGCACTTGGCTGAGATCCTGAAAACTCAGTTGAGGAGAAAAGAA c.720
Q I E E L E H L A E I L K T Q L R R K E p.240
. . . . . | 07 . g.33741
AATGAAATTGAGTTATCTCTTCTTCAGCTTCGAGAACAGCAAGCTACAGATCAAAG | GTCA c.780
N E I E L S L L Q L R E Q Q A T D Q R | S p.260
. . . . . . g.33801
AATATTCGGGACAATGTAGAAATGATTAAGCTTCATAAACAGCTAGTAGAGAAAAGCAAT c.840
N I R D N V E M I K L H K Q L V E K S N p.280
. . . . | 08 . . g.35861
GCTCTTTCAGCAATGGAAGGAAAATTTATTCAGCTTCAAGAG | AAGCAAAGAACTCTCAGA c.900
A L S A M E G K F I Q L Q E | K Q R T L R p.300
. . . . . . g.35921
ATCAGCCACGATGCTTTGATGGCAAATGGGGATGAATTAAACATGCAACTTAAAGAGCAG c.960
I S H D A L M A N G D E L N M Q L K E Q p.320
. . . . . . g.35981
CGTTTAAAATGCTGCAGTCTTGAGAAACAATTACATTCTATGAAGTTTTCTGAAAGAAGA c.1020
R L K C C S L E K Q L H S M K F S E R R p.340
| 09 . . . . . g.37327
ATAGAAGAG | CTGCAGGATAGAATTAATGATTTAGAAAAGGAACGGGAACTTTTAAAGGAA c.1080
I E E | L Q D R I N D L E K E R E L L K E p.360
. . | 10 . . . . g.43887
AACTATGATAAACTTTATGACAG | TGCCTTCAGTGCTGCCCATGAAGAGCAATGGAAGTTA c.1140
N Y D K L Y D S | A F S A A H E E Q W K L p.380
. . . . . . g.43947
AAGGAGCAACAGCTGAAAGTGCAGATTGCTCAGCTCGAGACTGCCTTGAAGTCTGACTTA c.1200
K E Q Q L K V Q I A Q L E T A L K S D L p.400
. . . . | 11 . . g.49998
ACAGACAAAACTGAAATCCTTGACAGATTAAAAACTGAAAGAG | ATCAAAATGAAAAACTC c.1260
T D K T E I L D R L K T E R D | Q N E K L p.420
. . . . . . g.50058
GTTCAAGAGAATAGAGAACTACAGTTACAGTATCTGGAACAAAAGCAACAACTTGATGAA c.1320
V Q E N R E L Q L Q Y L E Q K Q Q L D E p.440
. . . | 12 . . . g.50425
CTTAAAAAACGCATAAAATTGTACAACCAG | GAGAATGATATTAATGCTGATGAATTGAGT c.1380
L K K R I K L Y N Q | E N D I N A D E L S p.460
. . | 13 . . . . g.51266
GAAGCTCTCCTACTTATAAAG | GCTCAAAAAGAACAAAAAAATGGAGACCTTTCCTTTTTA c.1440
E A L L L I K | A Q K E Q K N G D L S F L p.480
. . . . . . g.51326
GTGAAAGTAGATAGTGAAATTAATAAAGATCTAGAACGCTCTATGAGAGAGCTGCAAGCA c.1500
V K V D S E I N K D L E R S M R E L Q A p.500
. . . . . . g.51386
ACTCATGCAGAAACGGTGCAAGAGCTGGAAAAGACAAGAAACATGCTAATTATGCAACAC c.1560
T H A E T V Q E L E K T R N M L I M Q H p.520
. . | 14 . . . . g.52309
AAAATTAATAAAGATTATCAG | ATGGAGGTTGAGGCAGTGACCCGTAAGATGGAAAATTTG c.1620
K I N K D Y Q | M E V E A V T R K M E N L p.540
. . . . . . g.52369
CAGCAAGATTATGAACTCAAAGTGGAACAGTATGTTCATCTTCTTGATATCAGGGCTGCA c.1680
Q Q D Y E L K V E Q Y V H L L D I R A A p.560
. | 15 . . . . g.55913
CGTATCCATAAACTAGAAG | CCCAATTAAAGGATATTGCCTATGGCACCAAGCAGTACAAA c.1740
R I H K L E A | Q L K D I A Y G T K Q Y K p.580
. . . . . . g.55973
TTTAAACCAGAAATCATGCCAGATGACTCTGTTGATGAATTTGATGAAACCATCCACTTA c.1800
F K P E I M P D D S V D E F D E T I H L p.600
. . . . . . g.56033
GAACGAGGCGAAAATCTATTTGAAATCCATATCAACAAAGTAACCTTTTCTTCTGAAGTT c.1860
E R G E N L F E I H I N K V T F S S E V p.620
. . . . . . g.56093
TTACAGGCATCTGGAGATAAAGAGCCTGTCACTTTCTGTACCTATGCTTTCTATGATTTT c.1920
L Q A S G D K E P V T F C T Y A F Y D F p.640
. . . . . . g.56153
GAACTACAGACAACTCCCGTAGTGCGAGGCCTTCATCCCGAATATAACTTCACTTCTCAA c.1980
E L Q T T P V V R G L H P E Y N F T S Q p.660
. . . . . . g.56213
TATCTTGTTCATGTTAATGACTTATTTTTGCAATATATTCAGAAGAATACTATCACCCTT c.2040
Y L V H V N D L F L Q Y I Q K N T I T L p.680
. . . . . . g.56273
GAGGTCCACCAGGCTTATAGCACAGAATATGAAACAATTGCAGCATGTCAATTAAAATTT c.2100
E V H Q A Y S T E Y E T I A A C Q L K F p.700
. . . . . | 16 . g.59752
CACGAAATTCTTGAAAAAAGCGGCCGAATATTTTGTACAGCAAGTTTGATTG | GAACAAAA c.2160
H E I L E K S G R I F C T A S L I G | T K p.720
. . . . . . g.59812
GGAGACATCCCAAATTTTGGCACAGTGGAATACTGGTTCCGATTAAGAGTTCCCATGGAT c.2220
G D I P N F G T V E Y W F R L R V P M D p.740
. . . . . . g.59872
CAAGCAATTCGACTTTATCGAGAAAGGGCAAAGGCTTTGGGGTATATAACATCAAATTTT c.2280
Q A I R L Y R E R A K A L G Y I T S N F p.760
. . | 17 . . . . g.62892
AAGGGGCCAGAGCATATGCAGTCG | TTAAGTCAGCAAGCACCCAAAACTGCTCAACTCAGT c.2340
K G P E H M Q S | L S Q Q A P K T A Q L S p.780
. . . . . . g.62952
TCTACAGATTCCACAGATGGCAACTTAAATGAACTTCACATTACAATAAGATGTTGCAAC c.2400
S T D S T D G N L N E L H I T I R C C N p.800
. . . . . . g.63012
CACCTGCAGTCCCGAGCAAGCCACCTGCAGCCACACCCATATGTTGTGTACAAGTTTTTT c.2460
H L Q S R A S H L Q P H P Y V V Y K F F p.820
. . . . . . g.63072
GATTTTGCAGACCATGATACAGCTATCATTCCCAGTAGCAATGATCCACAGTTTGATGAT c.2520
D F A D H D T A I I P S S N D P Q F D D p.840
. . . . . . g.63132
CATATGTATTTCCCAGTGCCAATGAATATGGACTTGGATCGATACCTTAAGTCAGAGTCT c.2580
H M Y F P V P M N M D L D R Y L K S E S p.860
. . . . . . g.63192
CTGAGTTTTTATGTTTTTGATGATAGTGATACCCAGGAGAATATTTACATAGGAAAAGTC c.2640
L S F Y V F D D S D T Q E N I Y I G K V p.880
. . . . | 18 . . g.67401
AATGTGCCTCTGATTTCGTTGGCACATGACAGGTGTATCTCAG | GAATATTTGAGTTAACA c.2700
N V P L I S L A H D R C I S G | I F E L T p.900
. . . . . . g.67461
GACCATCAAAAGCATCCTGCTGGCACCATCCATGTTATATTGAAATGGAAATTTGCTTAC c.2760
D H Q K H P A G T I H V I L K W K F A Y p.920
. . . . . . g.67521
CTTCCACCAAGTGGATCAATAACAACTGAAGACTTAGGAAATTTCATTCGCAGCGAAGAG c.2820
L P P S G S I T T E D L G N F I R S E E p.940
. . . . . | 19 . g.67749
CCAGAAGTTGTTCAAAGACTTCCTCCAGCATCCTCTGTTAGCACACTAGTTTTA | GCACCA c.2880
P E V V Q R L P P A S S V S T L V L | A P p.960
. . . . . . g.67809
AGACCTAAACCAAGACAACGTTTAACACCTGTAGATAAGAAGGTATCTTTCGTGGATATC c.2940
R P K P R Q R L T P V D K K V S F V D I p.980
. | 20 . . . . g.70490
ATGCCACATCAGAGTGAT | GAGACTTCTCCTCCTCCTGAAGATAGGAAGGAAATTTCACCA c.3000
M P H Q S D | E T S P P P E D R K E I S P p.1000
. . . . . . g.70550
GAGGTAGAGCATATACCAGAAATAGAAATTAATATGCTGACTGTTCCACATGTTCCCAAG c.3060
E V E H I P E I E I N M L T V P H V P K p.1020
| 21 . . . . . . g.71065
| GTTTCACAAGAAGGCAGTGTAGATGAGGTAAAAGAGAATACTGAGAAAATGCAGCAAGGA c.3120
| V S Q E G S V D E V K E N T E K M Q Q G p.1040
. . . . . . g.71125
AAAGATGATGTGTCTTTACTATCTGAAGGTCAGCTTGCAGAACAAAGCTTGGCATCTTCT c.3180
K D D V S L L S E G Q L A E Q S L A S S p.1060
. . . . | 22 . . g.72367
GAAGATGAAACAGAAATAACAGAGGACTTGGAACCAGAAG | TTGAAGAGGACATGTCAGCT c.3240
E D E T E I T E D L E P E V | E E D M S A p.1080
. . . . . | 23 . g.86509
TCTGACAGTGATGACTGTATTATTCCAGGTCCTATCTCCAAGAATATCAAACAG | AGTCTC c.3300
S D S D D C I I P G P I S K N I K Q | S L p.1100
. . . . . . g.86569
GCATTGTCTCCCGGGCTGGGGTGCAGTAGCGCGATCTCAGCTCACTGCAACTTCCGCCTC c.3360
A L S P G L G C S S A I S A H C N F R L p.1120
. . . . . . g.86629
CCGGGTTCCAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCTGC c.3420
P G S S D F P A S A S Q V D G I T G A C p.1140
. | 24 . . . . . g.89699
CACCACACCCAG | CCATCAGAAAAAATTCGGATTGAGATCATAGCTCTAAGCCTTAATGAT c.3480
H H T Q | P S E K I R I E I I A L S L N D p.1160
. . . . . . g.89759
TCTCAAGTAACCATGGATGACACTATCCAACGGCTGTTTGTTGAGTGTCGATTCTACAGT c.3540
S Q V T M D D T I Q R L F V E C R F Y S p.1180
. . . . . . g.89819
CTTCCTGCTGAAGAGACACCCGTGTCACTTCCAAAACCCAAGAGTGGGCAGTGGGTCTAC c.3600
L P A E E T P V S L P K P K S G Q W V Y p.1200
. | 25 . . . . . g.97852
TATAACTATAGCAATG | TGATCTACGTGGATAAAGAAAACAACAAAGCAAAGAGAGACATC c.3660
Y N Y S N V | I Y V D K E N N K A K R D I p.1220
. . . . | 26 . . g.103264
TTAAAAGCTATACTACAAAAACAAGAGATGCCTAATAGAAG | CCTTCGCTTCACCGTGGTC c.3720
L K A I L Q K Q E M P N R S | L R F T V V p.1240
. . . . . . g.103324
AGTGACCCTCCAGAGGACGAGCAGGACCTGGAGTGTGAGGACATTGGCGTGGCTCACGTC c.3780
S D P P E D E Q D L E C E D I G V A H V p.1260
. . . . . | 27 . g.106676
GACCTTGCCGACATGTTTCAGGAAGGGAGGGACCTCATTGAGCAAAATATCGATG | TTTTT c.3840
D L A D M F Q E G R D L I E Q N I D V | F p.1280
. . . . . . g.106736
GATGCACGAGCAGATGGTGAAGGTATTGGCAAGCTCAGGGTAACAGTCGAAGCTCTCCAT c.3900
D A R A D G E G I G K L R V T V E A L H p.1300
. . . . g.106784
GCCCTCCAGTCTGTCTACAAGCAATACAGAGATGACTTGGAGGCTTGA c.3948
A L Q S V Y K Q Y R D D L E A X p.1315
. . . . . . g.106844
aagcaaatgctccagaggcatctcctactcctcagtaaatgctcacatgaaagttcctac c.*60
. . . . . . g.106904
atgagatttttgtaattactctggtgtatataatctataattcatgggaagctgggagcg c.*120
. . . . . . g.106964
gggagacctgggtttgaagtgttgaagttttgtatactttttcatttgtttatttctcta c.*180
. . . . . . g.107024
ttccctccttctcataactgccacccctcaggacttaagttctccataatgggcagtacc c.*240
. . . . . . g.107084
ttctcaataatttatacctacgtgatagcgtgagaaagtctatttgcattttcaacattt c.*300
. . . . . . g.107144
tcttaggaagaaccgaaatgcaattcccatttttatttttaataagcaaaagcataaatc c.*360
. . . . . . g.107204
ttagaaaacctatgaaaaagaaatacttttatgttatccctaatcgtcccactaaatgga c.*420
. . . . . . g.107264
atgcctatgattagcttcattaagagttttatactgtgaagattttattagaagcaatat c.*480
. . . . . . g.107324
atgaaaattacttggattaatgtgttaatcttcctctttaaaatgctaatatccatttta c.*540
. . . . . . g.107384
tgcacattaaagctcagtatgcattttctttgatgcatgcagtttctatcaattaaatat c.*600
. . . . . . g.107444
aaagaatgaaacttagcaccaacttattcaatgactgcaagttttttgtctttctttctt c.*660
. . . . . . g.107504
aaaagttcattctatttgtattattttcatacatttgtaatggtgacccagggatgtata c.*720
. . . . . . g.107564
tataaaaaggagatagttatatagatagatgtgaaatttacacgttgaaaacttagtata c.*780
. . . . . . g.107624
tgacacagaaagaaattatgaaaagtataactcaaattctgatatgcttagttagacgtg c.*840
. . . . . . g.107684
aaaggagtatctttttatcattttttaaatttacatcaagccagtacagtgccagggtgt c.*900
. . . . . . g.107744
atctgggtaaccagatcctcgaaaagcagctctgaaagttaattttctagcttttaccca c.*960
. . . . . . g.107804
atctcactgaaggatttaattgatatttttaatggagctgtgaatcaatgctgcaaagga c.*1020
. . . . . . g.107864
attgtctctagaggtctaggatataatgcatttcattttttaatttacttttttatttgt c.*1080
. . . . . . g.107924
cattttcttcaaaggatttttataggctgtgggttttcactgtttgcaaacaggctatgt c.*1140
. . . . . . g.107984
tccttcttaagcatatgtaaagtattcagggagataagtaatttattaaaatctacctaa c.*1200
. . . . . . g.108044
tttgccgtgatatattaaatctctgcttcagtgatcacagaccatttcatttagagaatt c.*1260
. . . . . . g.108104
aggcattccctctttgtgtgattaaagctctggaaaatgagttctttgctcctatttgtg c.*1320
. . . . . . g.108164
aacattcaaagcctgctaatggcaagaagatggaatagattatgagacaattcattacag c.*1380
. . . . . . g.108224
ttcaatagaaaaaaaaagcagctataatgcaaaaatgcaagtatgaatatctgcatatag c.*1440
. . . . . . g.108284
tttgaaccatctgtgctctaatggcttcaataatgactctcgtctttagaaggctttgaa c.*1500
. . . . . . g.108344
atgacatccgtacaatattaatttgttgatgtacattgtgggaccagtagagtatgatct c.*1560
. . . . . . g.108404
gaccacagaaatctataaattctgtctataccactgggcctccctgtcctggggcctgcc c.*1620
. . . . . . g.108464
atctccgagaagaatcttgctctcatccaactctgcaaatcttcataacaactcgttcct c.*1680
. . . . . . g.108524
ctggaaccttctggagaccacaaacatctgcagactaaacctctccagtcctagtaaaca c.*1740
. . . . . . g.108584
accacatgtttgttgtcacttcggctggctctgagctcatttttttggcccctttttcta c.*1800
. . . . . . g.108644
gctttctttggctttatgcagttacagtgtcattaaggcccataatattccctgcagtaa c.*1860
. . . . . . g.108704
tttaaaacagccagattataccctgggattaactgagtggtttttgagacatttattgtg c.*1920
. . . . . . g.108764
gtattctcccaggaggtttgtattattgttgtaaaatgttacatcccaaactaaataacc c.*1980
. . . . . . g.108824
cttctgcagggagaagaaccagattgcactgacttcttaggatcattaagtggaaaggaa c.*2040
. . . . . . g.108884
aagtttttcttagaaaacttatgggacccagtcacctgtatggaatgtatatctcagaca c.*2100
. . . . . . g.108944
agatgagagaaacagccatgtttctgtcacattgtttactgtcatattaaagatatctag c.*2160
. g.108954
ttttaaaata c.*2170
(downstream sequence)
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