(used for variant description)
(last modified April 20, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_133459.3 in the CCBE1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016990.1, covering CCBE1 transcript NM_133459.3.
(upstream sequence)
. g.5010
cggccgcgga c.-61
. . . . . . g.5070
ggagcaggacgcttggtccggacggagctcggcgctgggaagaagccgggagcttccctg c.-1
. . . . . . g.5130
ATGGTGCCGCCGCCTCCGAGCCGGGGAGGAGCTGCCAGGGGCCAGCTGGGCAGGAGCCTG c.60
M V P P P P S R G G A A R G Q L G R S L p.20
. . . . . . g.5190
GGTCCGCTGCTGCTGCTCCTGGCGTTGGGACACACGTGGACCTACAGAGAGGAGCCGGAG c.120
G P L L L L L A L G H T W T Y R E E P E p.40
. | 02 . . . . . g.5752
GACGGCGACAG | AGAAATCTGCTCAGAGAGCAAAATCGCGACGACTAAATACCCGTGTCTG c.180
D G D R | E I C S E S K I A T T K Y P C L p.60
. . . | 03 . . . g.222202
AAGTCTTCAGGCGAGCTCACCACATGCTACAG | GAAAAAGTGCTGCAAAGGATATAAATTT c.240
K S S G E L T T C Y R | K K C C K G Y K F p.80
. . | 04 . . . . g.232840
GTTCTTGGACAATGCATCCCAGAAG | ATTACGACGTTTGTGCCGAGGCTCCCTGTGAACAG c.300
V L G Q C I P E D | Y D V C A E A P C E Q p.100
. . . . . . g.232900
CAGTGCACGGACAACTTTGGCCGAGTGCTGTGTACTTGTTATCCGGGATACCGATATGAC c.360
Q C T D N F G R V L C T C Y P G Y R Y D p.120
. . . . | 05 . . g.235541
CGGGAGAGACACCGGAAGCGGGAGAAGCCATACTGTCTGG | ATATTGATGAGTGTGCCAGC c.420
R E R H R K R E K P Y C L D | I D E C A S p.140
. . . . . . g.235601
AGCAATGGGACGCTGTGTGCCCACATCTGCATCAATACCTTGGGCAGCTACCGCTGCGAG c.480
S N G T L C A H I C I N T L G S Y R C E p.160
. . . . . . g.235661
TGCCGGGAAGGCTACATCCGGGAAGATGATGGGAAGACATGTACCAGGGGAGACAAATAT c.540
C R E G Y I R E D D G K T C T R G D K Y p.180
. | 06 . . . . . g.247508
CCCAATGACACTG | GCCATGAGAAGTCTGAGAACATGGTGAAAGCCGGAACTTGCTGTGCC c.600
P N D T G | H E K S E N M V K A G T C C A p.200
. . . . . | 07 . g.254315
ACATGCAAGGAGTTCTACCAGATGAAGCAGACCGTGCTGCAGCTGAAGCAAAAG | ATTGCT c.660
T C K E F Y Q M K Q T V L Q L K Q K | I A p.220
. . . . . . g.254375
CTGCTCCCCAACAATGCAGCTGACCTGGGCAAGTATATCACTGGTGACAAGGTGCTGGCC c.720
L L P N N A A D L G K Y I T G D K V L A p.240
. . . . . | 08 . g.262601
TCAAACACCTACCTTCCAGGACCTCCTGGCCTGCCTGGGGGCCAGGGCCCTCCCG | GCTCA c.780
S N T Y L P G P P G L P G G Q G P P G | S p.260
. . . . . . g.262661
CCAGGACCAAAGGGAAGCCCAGGCTTCCCCGGTATGCCAGGCCCTCCTGGGCAGCCCGGC c.840
P G P K G S P G F P G M P G P P G Q P G p.280
. . . . . . g.262721
CCACGGGGCTCAATGGGACCCATGGGACCATCTCCTGATCTGTCCCACATTAAGCAAGGC c.900
P R G S M G P M G P S P D L S H I K Q G p.300
. | 09 . . . . | 10 . g.264275
CGGAGGGGCCCTGTG | GGTCCACCAGGGGCACCAGGAAGAGATGGTTCTAAG | GGGGAGAGA c.960
R R G P V | G P P G A P G R D G S K | G E R p.320
. . | 11. . . . g.266304
GGAGCGCCTGGGCCCAGAGGGTCTCCA | GGACCCCCTGGTTCTTTCGACTTCCTGCTACTT c.1020
G A P G P R G S P | G P P G S F D F L L L p.340
. . . . . . g.266364
ATGCTGGCTGACATCCGCAATGACATCACTGAGCTGCAGGAAAAGGTGTTCGGGCACCGG c.1080
M L A D I R N D I T E L Q E K V F G H R p.360
. . . . . . g.266424
ACTCACTCTTCAGCAGAGGAGTTCCCTTTACCTCAGGAATTTCCCAGCTACCCAGAAGCC c.1140
T H S S A E E F P L P Q E F P S Y P E A p.380
. . . . . . g.266484
ATGGACCTGGGCTCTGGAGATGACCATCCAAGAAGAACTGAGACAAGAGACTTGAGAGCC c.1200
M D L G S G D D H P R R T E T R D L R A p.400
. . g.266505
CCCAGAGACTTCTACCCATAG c.1221
P R D F Y P X p.406
. . . . . . g.266565
cacatcccaacaccgtcacgccaaaggaagagaaagatcaactcacctgcagttaaacca c.*60
. . . . . . g.266625
tctaaagagaagaaagaccactggagacctagaaaacatacatttttctcttctcttctc c.*120
. . . . . . g.266685
ctgacgtctctccactcctcttcttccaaatacgatgctattttcagagtcccctcctag c.*180
. . . . . . g.266745
gcctgcagacatgagggagtgaatgattgatttacctgcttctcactaagagtccattgg c.*240
. . . . . . g.266805
ggtggtttgcattgtaacttttcttttacatcctatttttccaggaactttggatttaag c.*300
. . . . . . g.266865
tactctcacagtgtcttaaatcataaattcttgaagttaaatttggcagagtatcaaaag c.*360
. . . . . . g.266925
ggggaaaatgacaaagtgagctctaagaaaatgtgaggctacttctaagatgtgtgttca c.*420
. . . . . . g.266985
caatagaccataactcctctagtatcaaaattggggctcttcagttaaaaaggggtgggg c.*480
. . . . . . g.267045
aggacaaacgtgtcgatgtgctttggtggagaattttttccttgtgcttctagtagactt c.*540
. . . . . . g.267105
taaatattgtatccctttgtcaaaccttgtttcccaaattcaattaaagagaggagagaa c.*600
. . . . . . g.267165
ttgaatggcgtttagagaagatagaaaagaatcacagtcatatatttactgttatataga c.*660
. . . . . . g.267225
ttgccacattctaaaattcaaatacggtgcttaaggtttcatgccatgcttatctgtaag c.*720
. . . . . . g.267285
tatcctatttagggaagaagattaaactctcttttcaaaaaaacaaagtgaaatgcctgg c.*780
. . . . . . g.267345
attcacattaaaacaatgggctctcgtttgctataatattttaaagctgtttaatcaaca c.*840
. . . . . . g.267405
gtggagtctgctctataaatatagattatttgttcaataaactggctgagcttagagaga c.*900
. . . . . . g.267465
ggtgcagaattcctggttctgagcaggtgcccagaaggtaccattaggtgccatgatcca c.*960
. . . . . . g.267525
ggctgaaccaatatacagtggggctgaagtctgcaaggaggttgctggcttgggctgacc c.*1020
. . . . . . g.267585
tcactaatgccatcagcagcggtaggtaaattttttctccttgggtattacaagtttttg c.*1080
. . . . . . g.267645
tctggagccaaccaagcttgccaccaacatattgagagtaatacactattgaaagttatc c.*1140
. . . . . . g.267705
ttggatggggagaaaaaaaaatagtggttttccttgtttgcaaaaacttccttcctattc c.*1200
. . . . . . g.267765
tcattttttcttaattttctttaatttagtccaagttccagttcttttaggccttctctt c.*1260
. . . . . . g.267825
tgatttattttcccctgcatgtgagaagcagttcagaaaaaggtctatatctccacctcc c.*1320
. . . . . . g.267885
tagtgagttagagtgttttctcagagcacctctgggtggcaaagggaagcatgttcctgc c.*1380
. . . . . . g.267945
caaggtttgctgtggattcagaagcaccaggagcaagagaccagaaggatgatctgctcc c.*1440
. . . . . . g.268005
tttgtaacgttgttgagggccctcttgtttccaatgagcagcttataggttactcacagt c.*1500
. . . . . . g.268065
ccactttctcactggacacacaaagtggctctttatctacctttgcgggagattttcact c.*1560
. . . . . . g.268125
ctcctgcaaatgatcgttctcacactcatattagctcatgttggaatttcccatcctgcc c.*1620
. . . . . . g.268185
atgtcctttcccatttctttttggcttttttgcctccaccttttagcccacatcatttaa c.*1680
. . . . . . g.268245
ctccactactgtgaaagcttgcttaaagaaaatccctcttggccgggtgtggtagcccac c.*1740
. . . . . . g.268305
gcctctaatcccagcactttgggaggctgaggcggggagatcacaaggtcaggagatcga c.*1800
. . . . . . g.268365
gaccagcctgaccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctggg c.*1860
. . . . . . g.268425
cgtgttggcacacacctgtaatcccagctactcaggaggctgaggcaggagaattacttt c.*1920
. . . . . . g.268485
aacctgcggggggagcctagattgcgctactgcactccagcctaggcaacagagggagac c.*1980
. . . . . . g.268545
tctgtctcattaaaaaaaaaaaaaaaaaaaaaaaaaggccgggcttggtggctcatgcct c.*2040
. . . . . . g.268605
gtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcaggagatcgagacc c.*2100
. . . . . . g.268665
acagtgaaaccctgtctctactaaaaacacaaaaaattagtcgggcgtggtggtgggcgc c.*2160
. . . . . . g.268725
ctgtggtcccagctgctcgggaggctgaggcaggagaatggcgtgaacctgggaggcgga c.*2220
. . . . . . g.268785
gcttgcgctgagccgagatcgtgccactgcactccagcctgggcgacagagcgagactct c.*2280
. . . . . . g.268845
gtctcaaaaaaaaaaaaatatcccttttgttgtgtttgaatgccacctttcagtcttctt c.*2340
. . . . . . g.268905
ccttaagaatgttaggaaggggctttgcaaacctctagtggcaacagtcttccttccctt c.*2400
. . . . . . g.268965
cttcctaccacgttggaaatgcaggactcatgtcagtcagcatgtgaccgagtctttcat c.*2460
. . . . . . g.269025
gaacactttgctcctctatgtctcatttatgcaaaattcctggtgactctccactaacat c.*2520
. . . . . . g.269085
ttttaaagtgaaagcaaactttcactttaaaaaaagtgagcgagaggatcccttgagccc c.*2580
. . . . . . g.269145
aggagttcaaggccagtctgggcaacatagcaagaccccatccctaaaaaaaaaaaaata c.*2640
. . . . . . g.269205
agttttattaaatgtggcactttcccctagaagggcagtaaccccaggaaccagtctgcc c.*2700
. . . . . . g.269265
tcttttcgaataaaggagactttttaaaaagaaaaaatttctttttagggtggggtgctc c.*2760
. . . . . . g.269325
tttatctagcatctttccttcctccttctctctgcaaaattcaacattcatgacagaggg c.*2820
. . . . . . g.269385
ccacaccaaccacgggtttatagagagaggaactgaacagctgttgattcccatctggaa c.*2880
. . . . . . g.269445
tatatttaatgtttgcctgcttgtggagcatggtatttaaagggtgtggatggatgaatg c.*2940
. . . . . . g.269505
tttaaaaaaaaacacacaaaactatgcacaagctgtatgagagatggctaggtccatcta c.*3000
. . . . . . g.269565
tgattttttttaaaagaagaattttaataccttttctttgacagtgaactgtatttagaa c.*3060
. . . . . . g.269625
atatgatctttattgtgaaatgctcataaaatgcaaccaaactgcatgtttggccatagg c.*3120
. . . . . . g.269685
ctagaataatatattaaaagaattaatggaaagtagtattgtctgggtttcatgaaacta c.*3180
. . . . . . g.269745
ttccagataatattctccagcaaaacttatggtaacctgtattttataatgtcaatctgc c.*3240
. . . . . . g.269805
tggaccaagttaatttagaaaataatttttaatcctcagattttcaaaacttggactact c.*3300
. . . . . . g.269865
gcaagactgatatgtactttttatgcccaaatcatatttttcaaagataggacatcataa c.*3360
. . . . . . g.269925
ggcatcattatttctaatgtatcttttaactagatagaaaaagctttactgtctaaacag c.*3420
. . . . . . g.269985
gacttctgctcaaaacctaatgggaaagctatttctggggtaagatttgtaacagtgctt c.*3480
. . . . . . g.270045
ctaggtcatttcatgttttatagggaaaaagatctttgtacacctcctcaacctgttagt c.*3540
. . . . . . g.270105
agaaatgttgacttcgattttttgcaccctcttcacaggacctcataagttgcctctgtt c.*3600
. . . . . . g.270165
cttggaaagcaatgggaataaaaatatgctgttgaaaatagtgcatggggccaggcacag c.*3660
. . . . . . g.270225
tggttatgcctgtaatcccaacactttgggaggctgaggcgggcgcatcatgaggtcagg c.*3720
. . . . . . g.270285
agatcaagaccatcctgaccaacacgtggtgaaaccccatctctactaaaataaataaaa c.*3780
. . . . . . g.270345
aaaaaaattagccaggcgtggtggtgcacgcctgtagtctcagctactcgggaagctgag c.*3840
. . . . . . g.270405
acacaagaattgcttgaacccgggaggtggaggttgcagtgagccaagattgcgccactg c.*3900
. . . . . . g.270465
cactccagcctggctacagagtgagactccgtctcgaaaaaagaaaatagtacatggagg c.*3960
. . . . . . g.270525
gcatgcattttagtttaggaaacccccctcccttcccagttccagagggagaaattataa c.*4020
. . . . . . g.270585
gctatactgtgccaaaagtgagtggggctgcagagagaatggtgccttttctcaccttct c.*4080
. . . . . . g.270645
gagttaatgcccgacatctgccattggattcattgaccaaaggaagtcatttctactgta c.*4140
. . . . . . g.270705
taaactcaggagtatcatagcccaacaagtaaataataaatgttcattggttttggaagg c.*4200
. . . . . . g.270765
aaggaaaggtgagtattaccccaccaaataccagcgaagagcaccctggctttggccatc c.*4260
. . . . . . g.270825
tttccaaggttcataattgctgtgggcctggtgagccctgttcccaggtatgcaagggag c.*4320
. . . . . . g.270885
ggcttctccaggccagacatttctgtaggttttcaggtagcaactcccccatcatatttt c.*4380
. . . . . . g.270945
gggtgtcattccccactctctctccccacttctcagcctgtgccccagaaacaaccacag c.*4440
. . . . . . g.271005
cagcctcattctgcagacttaacatctgtcaaataaccttcctgaaaaggaaagttattg c.*4500
. . . . . . g.271065
gaggaatccaggccaaacaacaagtagaatagagccatctaaagttattaataatgagtt c.*4560
. . . . . . g.271125
cagggaaatagatgaattttttcctggcatagtcaatatttatatctcacaacaagtcaa c.*4620
. . . . . . g.271185
aaataattttccatttggaaaacaaaacacaccatgactgtaattgttaaggcatataat c.*4680
. . . . . . g.271245
catgaacttcacatgctccctcaacaaacgttactgctctagggaaatcatagaaaagga c.*4740
. . . . . . g.271305
ccctcttactccccaggggatcaaagcaagtccccttaggaatttcatgtgtgccgtggg c.*4800
. . . . . . g.271365
tctgtttttatttcacagtgactagtcatatactggagtagctctgttgttcattatttg c.*4860
. . . . . . g.271425
taacaggtccatgtaacagtcaagttagcattcaagcaattatggatgtgatactatgat c.*4920
. . . . g.271474
gtacttttgttatgattgtatatgcttaataacaaagttatttttctta c.*4969
(downstream sequence)
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