(used for variant description)
(last modified March 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001002814.2 in the RAB11FIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering RAB11FIP1 transcript NM_001002814.2.
(upstream sequence)
. . . . . g.5056
gtggaggccgccagtcgcggcgatcttctcctcgcttctggagtgttatcgtcacc c.-1
. . . . . . g.5116
ATGTCCCTAATGGTCTCGGCTGGCCGGGGCCTGGGGGCCGTGTGGTCCCCAACCCACGTG c.60
M S L M V S A G R G L G A V W S P T H V p.20
. . . . . . g.5176
CAGGTGACGGTGCTGCAGGCGCGGGGCCTGCGGGCCAAGGGCCCCGGGGGCACGAGCGAC c.120
Q V T V L Q A R G L R A K G P G G T S D p.40
. . . . . . g.5236
GCGTACGCGGTGATCCAGGTGGGCAAGGAGAAGTACGCCACCTCCGTGTCGGAGCGCAGC c.180
A Y A V I Q V G K E K Y A T S V S E R S p.60
. . . . . . g.5296
CTGGGCGCGCCCGTGTGGCGCGAGGAGGCCACCTTCGAGCTGCCATCGCTGCTGTCCTCC c.240
L G A P V W R E E A T F E L P S L L S S p.80
. . . . . . g.5356
GGACCCGCGGCCGCCGCCACCCTGCAGCTCACCGTGCTGCACCGCGCGCTGCTCGGCCTC c.300
G P A A A A T L Q L T V L H R A L L G L p.100
. . . . . . g.5416
GACAAGTTCCTGGGCCGCGCCGAGGTGGACCTGCGGGATCTGCACCGCGACCAGGGCCGC c.360
D K F L G R A E V D L R D L H R D Q G R p.120
. | 02 . . . . . g.26995
AGGAAGACGCA | GTGGTATAAGTTGAAATCCAAACCAGGAAAGAAGGACAAGGAGCGAGGA c.420
R K T Q | W Y K L K S K P G K K D K E R G p.140
. . . . . . g.27055
GAAATTGAGGTTGACATCCAGTTTATGAGAAACAACATGACTGCCAGCATGTTTGACCTT c.480
E I E V D I Q F M R N N M T A S M F D L p.160
. . . . . . g.27115
TCTATGAAAGACAAGTCTCGGAATCCATTTGGAAAGCTGAAGGACAAGATCAAGGGGAAG c.540
S M K D K S R N P F G K L K D K I K G K p.180
. . . . . . g.27175
AATAAGGACAGTGGGTCAGACACCGCCTCCGCCATCATCCCTAGCACGACACCTTCGGTC c.600
N K D S G S D T A S A I I P S T T P S V p.200
. . . . . . g.27235
GACAGTGATGATGAGTCTGTGGTTAAAGACAAGAAAAAGAAATCAAAGATCAAGACCTTA c.660
D S D D E S V V K D K K K K S K I K T L p.220
. . . . . . g.27295
CTTTCCAAGTCAAATTTGCAGAAGACGCCTCTTTCCCAGTCCATGTCTGTCCTGCCGACT c.720
L S K S N L Q K T P L S Q S M S V L P T p.240
. . . . . . g.27355
TCAAAGCCAGAAAAAGTGCTGCTTCGTCCCGGAGACTTTCAGTCCCAGTGGGATGAAGAT c.780
S K P E K V L L R P G D F Q S Q W D E D p.260
. . . | 03 . . . g.29201
GACAATGAGGATGAGTCCTCCTCGGCCTCGGATG | TCATGTCTCACAAGAGAACAGCGAGT c.840
D N E D E S S S A S D V | M S H K R T A S p.280
. . . . . . g.29261
ACGGATCTTAAGCAACTGAACCAGGTCAACTTTACCCTTCCCAAGAAGGAAGGACTTTCC c.900
T D L K Q L N Q V N F T L P K K E G L S p.300
. . . . . . g.29321
TTTCTTGGTGGCCTTCGGTCTAAGAATGATGTCCTTTCCCGCTCTAATGTCTGCATCAAT c.960
F L G G L R S K N D V L S R S N V C I N p.320
. . . . . . g.29381
GGGAACCATGTTTACCTGGAGCAGCCAGAAGCCAAGGGTGAGATCAAGGATAGCAGCCCG c.1020
G N H V Y L E Q P E A K G E I K D S S P p.340
. . . . . . g.29441
TCCTCCTCCCCATCCCCCAAGGGCTTCAGAAAGAAGCATTTGTTCTCTTCTACAGAGAAC c.1080
S S S P S P K G F R K K H L F S S T E N p.360
. . . . . . g.29501
CTGGCGGCTGGGTCTTGGAAGGAGCCTGCTGAAGGAGGTGGGCTGTCTTCTGACAGGCAG c.1140
L A A G S W K E P A E G G G L S S D R Q p.380
. . . . . . g.29561
CTCTCCGAATCTTCCACCAAGGACTCCTTGAAGTCTATGACCCTGCCGTCCTACCGACCT c.1200
L S E S S T K D S L K S M T L P S Y R P p.400
. . . . . . g.29621
GCCCCACTGGTCAGTGGGGACCTCAGGGAAAACATGGCCCCCGCAAACTCAGAGGCCACA c.1260
A P L V S G D L R E N M A P A N S E A T p.420
. . . . . . g.29681
AAAGAAGCTAAGGAGAGCAAGAAGCCAGAGAGCAGGAGGTCCTCTTTGCTGTCTCTGATG c.1320
K E A K E S K K P E S R R S S L L S L M p.440
. . . . . . g.29741
ACGGGGAAGAAGGATGTGGCTAAGGGCAGTGAAGGTGAAAACCCTCTCACGGTCCCAGGG c.1380
T G K K D V A K G S E G E N P L T V P G p.460
. . . . . . g.29801
AGGGAGAAGGAAGGCATGCTGATGGGGGTTAAGCCGGGGGAGGACGCATCGGGGCCTGCT c.1440
R E K E G M L M G V K P G E D A S G P A p.480
. . . . . . g.29861
GAAGACCTTGTGAGAAGATCTGAGAAAGATACTGCAGCTGTTGTCTCCAGACAGGGCAGC c.1500
E D L V R R S E K D T A A V V S R Q G S p.500
. . . . . . g.29921
TCCCTGAACCTCTTTGAAGATGTGCAGATCACAGAACCAGAAGCTGAGCCAGAGTCCAAG c.1560
S L N L F E D V Q I T E P E A E P E S K p.520
. . . . . . g.29981
TCTGAACCGAGACCTCCAATTTCCTCTCCGAGGGCTCCCCAGACCAGAGCTGTCAAGCCC c.1620
S E P R P P I S S P R A P Q T R A V K P p.540
| 04 . . . . . . g.31376
CG | ACTGGAAGTGTCTCCAGAGGCGCAACCCACAGCCAGGCTTCCTTCCCCTACTGACTCC c.1680
R | L E V S P E A Q P T A R L P S P T D S p.560
. . . . . . g.31436
CCTTCCTCTCTTCCTCCTCTTCCTTCTAGCTCTGGCCAGGCATCTGTCCCCTCTGAATTG c.1740
P S S L P P L P S S S G Q A S V P S E L p.580
. . . . . . g.31496
GGACATGGTGCAGACACACAGTCCTCTGAGAGTCCTTCTGTCTTCTCCTCTCTCTCATCT c.1800
G H G A D T Q S S E S P S V F S S L S S p.600
. . . . . . g.31556
CCCATAGCAGCTCCCATTTCCACATCCACTCCAATTGAAAGCTGGCCTCTCGTAGACAGG c.1860
P I A A P I S T S T P I E S W P L V D R p.620
. . . . . . g.31616
GGCCAGGCCAAGTCTGAAGGACCACCCTTGCTCCCTAAGGCAGAGTTGCAAACTGAGAGT c.1920
G Q A K S E G P P L L P K A E L Q T E S p.640
. . . . . . g.31676
TTAACACCGGTTCCAAATTCTGGTTCTTCTGCCCTGGGATCACTTTTCAAACAGCCATCC c.1980
L T P V P N S G S S A L G S L F K Q P S p.660
. . . . . . g.31736
TTTCCAGCAAATAAAGGGACAGAAGATTCTCTGATGGGCAGGACCCGTGAGACAGGCACA c.2040
F P A N K G T E D S L M G R T R E T G T p.680
. . . . . . g.31796
GAGAAGAACACCAGCAGCCTTGAGTTGGAGGAGTCTCTCCCAGAGCAGCCTGAAACAGGG c.2100
E K N T S S L E L E E S L P E Q P E T G p.700
. . . . . . g.31856
CGACAAGAGGAAGAACTTCCGAGATTCCCCTGCAAAAAACAAGACTACAGCCCATCATCT c.2160
R Q E E E L P R F P C K K Q D Y S P S S p.720
. . . . . . g.31916
GGAGAAGCCCAGGAAGTACCGTTTGCCCTTTCACTCAGCAGTGATGGAGCTGTGAGCCCT c.2220
G E A Q E V P F A L S L S S D G A V S P p.740
. . . . . . g.31976
GTTGGGGAGCTTGCAGCAGGAGGAGACAGAGACTTGGAGAGTCAGGCTGGGTCTCTTGTG c.2280
V G E L A A G G D R D L E S Q A G S L V p.760
. . . . . . g.32036
GAGAGCAAAGCCAGGGATGCAGCTGAAGAAGTGGCGCCCCCTCTTCCCATGGGAGCATCA c.2340
E S K A R D A A E E V A P P L P M G A S p.780
. . . . . . g.32096
GTCCCTTCCATTGATTCCATGATGCGGAAGCTGGAAGAGATGGGTCTGAACCTCCGCAAG c.2400
V P S I D S M M R K L E E M G L N L R K p.800
. . . . . . g.32156
GACCAGAAGAAAACCAAGAAGCGTGTGTCATTTTCTGAGCAGCTCTTCACGGAAGAGGCA c.2460
D Q K K T K K R V S F S E Q L F T E E A p.820
. . . . . . g.32216
GTGGCGGGGGCTGCCTTGCTGGTGGAAGGACACAGCAGTTGTCCCCAGGAGCTGAACCCT c.2520
V A G A A L L V E G H S S C P Q E L N P p.840
. . . . . . g.32276
GCATGGTCTGTTGCTGGAAACGCGTCTGACGGAGAGCCTCCTGAGTCTCCCCACGCAGAG c.2580
A W S V A G N A S D G E P P E S P H A E p.860
. . . . . . g.32336
GACTCAGAAAGGGAATCGGTGACCACACCTGGGCCAGCGACGTGTGGTGCGCCAGCCTCC c.2640
D S E R E S V T T P G P A T C G A P A S p.880
. . . . . . g.32396
CCAGCGGATCACCTCCTCCTCCCCTCCCAGGAGGAGAGTTTCTCCGAAGTCCCCATGAGT c.2700
P A D H L L L P S Q E E S F S E V P M S p.900
. . . . . . g.32456
GAAGCAAGCTCAGCGAAAGACACTCCACTCTTTAGGATGGAGGGAGAGGATGCCCTTGTG c.2760
E A S S A K D T P L F R M E G E D A L V p.920
. . . . . . g.32516
ACTCAGTATCAGAGCAAAGCCAGTGACCACGAAGGTTTATTGTCTGACCCCTTGAGTGAC c.2820
T Q Y Q S K A S D H E G L L S D P L S D p.940
. . . . . . g.32576
CTTCAGTTGGTCTCAGATTTTAAATCTCCAATCATGGCCGATCTGAACTTAAGCCTTCCT c.2880
L Q L V S D F K S P I M A D L N L S L P p.960
. . . . . . g.32636
TCCATTCCTGAAGTCGCATCGGATGATGAAAGAATAGATCAGGTTGAAGATGACGGAGAT c.2940
S I P E V A S D D E R I D Q V E D D G D p.980
. . . . . . g.32696
CAGGTTGAAGATGATGGAGAGACAGCAAAGTCGTCAACTCTGGACATAGGAGCTTTGTCC c.3000
Q V E D D G E T A K S S T L D I G A L S p.1000
. . . . . . g.32756
TTGGGCTTGGTAGTCCCCTGTCCTGAGAGGGGAAAGGGGCCCAGTGGCGAGGCAGATAGG c.3060
L G L V V P C P E R G K G P S G E A D R p.1020
. . . . . . g.32816
TTGGTACTGGGGGAGGGCCTGTGTGATTTCAGGCTGCAAGCACCCCAGGCATCTGTGACA c.3120
L V L G E G L C D F R L Q A P Q A S V T p.1040
. . . . . . g.32876
GCTCCTTCAGAGCAGACCACAGAGTTCGGAATTCACAAACCACATCTTGGCAAGAGCTCA c.3180
A P S E Q T T E F G I H K P H L G K S S p.1060
. . . . . . g.32936
AGCTTGGATAAACAGCTGCCAGGCCCCAGTGGTGGTGAGGAAGAAAAACCGATGGGAAAT c.3240
S L D K Q L P G P S G G E E E K P M G N p.1080
. . . . . . g.32996
GGGAGTCCAAGCCCGCCTCCTGGCACATCCCTGGACAATCCTGTACCCAGCCCCTCCCCT c.3300
G S P S P P P G T S L D N P V P S P S P p.1100
. . . . . . g.33056
TCTGAGATCTTTCCTGTCACACACTCTTTCCCCAGCTCTGCACATTCTGACACTCACCAC c.3360
S E I F P V T H S F P S S A H S D T H H p.1120
. . . . . . g.33116
ACCAGCACAGCAGAATCTCAAAAAAAAGCCACAGCAGAGGGCTCCGCTGGTAGAGTTGAA c.3420
T S T A E S Q K K A T A E G S A G R V E p.1140
. . . . . . g.33176
AATTTTGGCAAGAGGAAGCCACTCCTCCAGGCCTGGGTCTCACCCTCGGAGACACATCCA c.3480
N F G K R K P L L Q A W V S P S E T H P p.1160
. . . . | 05 . . g.33985
GTCTCAGCTCAGCCAGGCGCTGGAACTGGGTCAGCCAAGCACAG | ACTTCATCCTGTGAAG c.3540
V S A Q P G A G T G S A K H R | L H P V K p.1180
. . . . . . g.34045
CCAATGAATGCAATGGCCACCAAGGTTGCTAACTGCAGCTTGGGAACTGCCACCATCATC c.3600
P M N A M A T K V A N C S L G T A T I I p.1200
. . . | 06 . . . g.41411
AGTGAGAACTTGAACAATGAGGTCATGATGAAG | AAATACAGCCCCTCGGACCCTGCATTT c.3660
S E N L N N E V M M K | K Y S P S D P A F p.1220
. . . . . . g.41471
GCATATGCGCAGCTGACCCACGATGAGCTGATTCAGCTGGTCCTCAAACAGAAGGAAACG c.3720
A Y A Q L T H D E L I Q L V L K Q K E T p.1240
. . . . . . g.41531
ATAAGCAAGAAGGAGTTCCAGGTCCGCGAGCTGGAAGACTACATTGACAACCTGCTTGTC c.3780
I S K K E F Q V R E L E D Y I D N L L V p.1260
. . . . . . g.41591
AGGGTCATGGAAGAAACCCCCAATATCCTCCGCATCCCGACTCAGGTTGGCAAAAAAGCA c.3840
R V M E E T P N I L R I P T Q V G K K A p.1280
. g.41603
GGAAAGATGTAA c.3852
G K M X p.1283
. . . . . . g.41663
atcagcagaaaaaaaacaccgagacgtttctgtgacttcactttcacctgctccaggggt c.*60
. . . . . . g.41723
caaggacttgccttgcctgataaccagccagcaggctccgaatcaccatctccctcacat c.*120
. . . . . . g.41783
gttatccggcaagagtgaattctaccaatggaagccaggttaatgattacaattaatctt c.*180
. . . . . . g.41843
ttactgtacattcccaaggctttagttttaaatgccactgtgcctttaacaaggttgtaa c.*240
. . . . . . g.41903
atattttatgcccaccagagatgtggtcataagatctgatcctgagccagagattcagat c.*300
. . . . . . g.41963
ggcacaggaagtattcatgtattttaacactggggttttctttctttcatactgagattt c.*360
. . . . . . g.42023
tttttcagtatgtatcctccagctcttaaagcttacctgagaaagctttaaatgagaaaa c.*420
. . . . . . g.42083
ggaccatgcgattggtgctgtgttacatacacatactttcttggcttctgagtagctcag c.*480
. . . . . . g.42143
gtgtggcttttggctgcagatgttaaattttgataccatgtaaacctacccagcttctca c.*540
. . . . . . g.42203
gacttgggtcttgttttttgatgggaacagaggtgtttagagaaagcctctgagtatgcc c.*600
. . . . . . g.42263
tttcagattttgaacaagcggccttttctaaacatcgacttctactactctctagcctta c.*660
. . . . . . g.42323
aaataccttctgcttagatccagggcccttctactggagataggaaaagtagaattcagg c.*720
. . . . . . g.42383
aattaaaagaattactctttattcaatttgaggaacttggtgaaagcccctcctcttatg c.*780
. . . . . . g.42443
acagccaggttcctgctggctagaccagcctattcagcgctttgctaggggattgggtgg c.*840
. . . . . . g.42503
tccacgcactcgctaatacagttctccaggtgtggaatgatgtcaatacgattgcttggc c.*900
. . . . . . g.42563
cttttccccctgtgcctttgctcggtgctctggtttcctcagcaacactccttgtaaggg c.*960
. . . . . . g.42623
gcagagacagggtccaccaactccccaagatgaagaagccccttcaggccagtcgtggtg c.*1020
. . . . . . g.42683
gctcatgcctgtaatcccagcactttgcaaggccgaggagggtggatcacttgaggtcag c.*1080
. . . . . . g.42743
gagttcgagaccagcctgaccaacatggcgaaaccccatctctactaaaaatacaaaaat c.*1140
. . . . . . g.42803
tagcttggcatggtggtgcgtgcctgtaatcccagctactcgggaggctggggcaggaga c.*1200
. . . . . . g.42863
attgcttgaacttgggagatggaggctgcagcgagccaagatcgtgccactgcactccag c.*1260
. . . . . . g.42923
cctgggcaagagtttttttaagactcttaaaaaaagagcctgggcaatttttttaagact c.*1320
. . . . . . g.42983
ctgtcttaaaaaaaactaaaaagaaaaaaagaagccccttcactctacaggggacaggag c.*1380
. . . . . . g.43043
accatggattggaccccaaagggattgaactgcatctgcatgtctgtcctttgaacactt c.*1440
. . . . . . g.43103
tctctccctgcccaaaaggaaacccaaattatttgtgggatactggggaaattgtagtga c.*1500
. . . . . . g.43163
agggcttaatgtagttaataaaagttaaaagtcagtagaaaacaggtgcctcagccttca c.*1560
. . . . . . g.43223
aatggttgctttttttccattttccctcatgaatagactcaccagcattttacccccttg c.*1620
. . . . . . g.43283
ttataaaactgtgcagagcaagaagatgatacttatttttgaatttgtatttttaaaact c.*1680
. . . . . . g.43343
agatttatagactttttttttttttaactagggcacttgcttccttcttagctaaaagca c.*1740
. . . . . . g.43403
ccagctgagatttttcaggtaattttgttgttactcacttaagactggaattagaatgtt c.*1800
. . . . . . g.43463
tctggtatttctcatttttttccctggctatgatagaatctcatctaatcttgacatctc c.*1860
. . . . . . g.43523
tcctaggggaagaatatcacaggctaatagcgtggttgggggtgaagatgatagcagtta c.*1920
. . . . . . g.43583
ttaaatcaggaatctcttttatgtgtgtccttgttacattgaggttaagagacaaaatca c.*1980
. . . . . . g.43643
ttggcagtgcaatctctttccaggatttcgtttgctgtggcattggttatatcagagcac c.*2040
. . . . . . g.43703
tttaatctgaaggatgatactgtaacttgatttatctaattagcttttaattatctacag c.*2100
. . . . . . g.43763
ctattttattttatttaattctctcctacagtactgggaccactgtaaacttctcagatg c.*2160
. . . . . . g.43823
acttgtatttttgtagtgctatgaaatttatttacatacttataaagaaaactgtatgtt c.*2220
. . . . . . g.43883
cacttgaactctgaaaatgtacatgtatggctggacgcggtggctcacgcctgtaatccc c.*2280
. . . . . . g.43943
agcactttgggaggctgaggcgggtgaatcacttgattgaggtcaggagttcgagaccag c.*2340
. . . . . . g.44003
cctggccaacatggcaaaaccccgtctctactaaaaaatacagaaattagctgggtgtgg c.*2400
. . . . . . g.44063
tggcagacagctgtaatctcagctgctcgggaggctgaggcacaagaatcgcttgagcca c.*2460
. . . . . . g.44123
gggaggtggaggttgcagtgagctgagatcacatcattgcactccagcctgggcaacggg c.*2520
. . . . . . g.44183
cgagactctgtctcaaaaaaaagaaagaaagaaaaggtacatgtatatatttgtcctgca c.*2580
. . . . . . g.44243
ttatgttttttacttgatataaatgtatttttactgtgatagtccaagtgccctgggggg c.*2640
. . . . . . g.44303
caggtgtgctctatgtggttcttcttccattggagagctggcgtagagatctgcagtgtt c.*2700
. . . . . . g.44363
cacaaggatgttggtttggagatgtctgctgctaggacctggggtgtgtgactcagtcca c.*2760
. . . . . . g.44423
tatgagagggacatctgggtggaggagtaaattcctgtgctctgaaatgccacttggtag c.*2820
. . . . . . g.44483
ctctggacaatgaaggacaattgactcaagggtgcctggcttctgctgctgctgggaaaa c.*2880
. . . . . . g.44543
aattcagtttatagcattcctgcacctcccaaagtagataacctggaggtcattcagtta c.*2940
. . . . . . g.44603
acaactgtccctgaggactcagttttgggggaggggttatctgggagaagctttagcctg c.*3000
. . . . . . g.44663
ttctgagccattaggagacattagtgaattggagcactggagaatcctacaaatggccta c.*3060
. . . . . . g.44723
tgtctcagaagagctgggacctccttccagctgctgcagatgctgacaggccctgggagg c.*3120
. . . . . . g.44783
ctgctgtgctctggagaagctggagcagctcatttcttggcctagcctggctgcctcaga c.*3180
. . . . . . g.44843
aagagcagtcaggacttgagggaagcatcaaattctatacccataaactgcagttggaag c.*3240
. . . . . . g.44903
tcagctttttgaaatgtccagcctttgcccaattgtttcagatcatctcatgcctcaggc c.*3300
. . . . . . g.44963
tttggcaggtatcctgccctccatcttattccagtgtgttcacctcatcaaggcagcaga c.*3360
. . . . . . g.45023
gtggatgaaggagtaagtctgccctttgccatactgaacagctgtggaccccgattggtg c.*3420
. . . . . . g.45083
agggctctgcatatgcctgtatgaaggagatacaggtgtgtgtgcacatgccggtatgaa c.*3480
. . . . . . g.45143
gaagacacaggcatgtgcttctcagttttgctaacagtgggagctcaacggggcagaggg c.*3540
. . . . . . g.45203
aggaaggtccatgatgctcagccacatactgtagagagaggcaatttaatgttaaatgac c.*3600
. . . . . . g.45263
gcaccatcctccctcccacccttctcccagtcaactttttttctttttctagaactacta c.*3660
. . . . . . g.45323
attatctctcaaggctgaaaaattaattgccttaggtggagaacttaattcctagtatcc c.*3720
. . . . . . g.45383
accaaacttaactccgtatctccatatggtgtctccatatctactgtgtgagctacttaa c.*3780
. . . . . . g.45443
ctgacgccctcttcctccaactgaaggatcgcccaacgtttttggattatagaattatta c.*3840
. . . . . . g.45503
tttcctgctttctttctttgggacttttgaatttctttggtttcgtttttaagaagtaac c.*3900
. . . . g.45551
ccaacatttcctacaacactaaataaaatggtacttacctttcaaaga c.*3948
(downstream sequence)
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