(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_021830.4 in the C10orf2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering C10orf2 transcript NM_021830.4.
(upstream sequence)
. g.5015
gagttttgcttccga c.-661
. . . . . . g.5075
ggtcaaggcgagtagcatgtgcgggagactcacgttgccggcgaagtgggagagagaaaa c.-601
. . . . . . g.5135
gtggtaacctggggctgggggccggcgcggcggagctcggagtagtagagcggagtgaag c.-541
. . . . . . g.5195
acacgggggaggatagagactggcattcctttgggccgggggattggcgggagtcgtgct c.-481
. . . . . . g.5255
gggtgctctcgccgtgttgaggtcccagtgaggggaaggagaagcggaagagggtctcta c.-421
. . . . . . g.5315
gtcggggcctagggcaaagggactacaaaaaggatgcagatgactatagaaatgaggacg c.-361
. . . . . . g.5375
acgaggagatgctgtggaggagcagtagaggtgagaagatgatgcaaagaaactgtgtca c.-301
. . . . . . g.5435
gtgaggaactgtatagagggtcatagaggtgaggtggcggagagaaactaactaacggac c.-241
. . . . . . g.5495
catagaggtgggggagccattgtagaaggacgtggacgcgaaagggtcgtgtagatgggc c.-181
. . . . . . g.5555
atatgtgtgaagcagcaacgtagaggggctgaagaggagaaattcatggagagaaagaat c.-121
. . . . . . g.5615
gcacctagagtgagctctgcagagtgctgcgtgggatatccctagagtttggtctagtga c.-61
. . . . . . g.5675
aggcacgctaaccaggcacctaaggcatttcaagtagtgacttcccacatttggctagga c.-1
. . . . . . g.5735
ATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAG c.60
M W V L L R S G Y P L R I L L P L R G E p.20
. . . . . . g.5795
TGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTAC c.120
W M G R R G L P R N L A P G P P R R R Y p.40
. . . . . . g.5855
AGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATC c.180
R K E T L Q A L D M P V L P V T A T E I p.60
. . . . . . g.5915
CGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCA c.240
R Q Y L R G H G I P F Q D G H S C L R A p.80
. . . . . . g.5975
CTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTC c.300
L S P F A E S S Q L K G Q T G V T T S F p.100
. . . . . . g.6035
AGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGG c.360
S L F I D K T T G H F L C M T S L A E G p.120
. . . . . . g.6095
AGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTT c.420
S W E D F Q A S V E G R G D G A R E G F p.140
. . . . . . g.6155
CTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGA c.480
L L S K A P E F E D S E E V R R I W N R p.160
. . . . . . g.6215
GCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTT c.540
A I P L W E L P D Q E E V Q L A D T M F p.180
. . . . . . g.6275
GGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCT c.600
G L T K V T D D T L K R F S V R Y L R P p.200
. . . . . . g.6335
GCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAG c.660
A R S L V F P W F S P G G S G L R G L K p.220
. . . . . . g.6395
CTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGA c.720
L L E A K C Q G D G V S Y E E T T I P R p.240
. . . . . . g.6455
CCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTG c.780
P S A Y H N L F G L P L I S R R D A E V p.260
. . . . . . g.6515
GTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACC c.840
V L T S R E L D S L A L N Q S T G L P T p.280
. . . . . . g.6575
CTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAG c.900
L T L P R G T T C L P P A L L P Y L E Q p.300
. . . . . . g.6635
TTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTG c.960
F R R I V F W L G D D L R S W E A A K L p.320
. . . . . . g.6695
TTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCC c.1020
F A R K L N P K R C F L V R P G D Q Q P p.340
. . . . . . g.6755
CGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTG c.1080
R P L E A L N G G F N L S R I L R T A L p.360
. . . . . . g.6815
CCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAA c.1140
P A W H K S I V S F R Q L R E E V L G E p.380
. . . . . . g.6875
CTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGT c.1200
L S N V E Q A A G L R W S R F P D L N R p.400
. . . . | 02 . . g.7125
ATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAG | GGCCAACAGGCAGTGGA c.1260
I L K G H R K G E L T V F T G | P T G S G p.420
. . . . . . g.7185
AAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTG c.1320
K T T F I S E Y A L D L C S Q G V N T L p.440
. . . . . . g.7245
TGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCC c.1380
W G S F E I S N V R L A R V M L T Q F A p.460
. . . . . . g.7305
GAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGAC c.1440
E G R L E D Q L D K Y D H W A D R F E D p.480
. . . . | 03 . . g.7916
CTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAG | GACTGTAATAGATACA c.1500
L P L Y F M T F H G Q Q S I R | T V I D T p.500
. . . . . . g.7976
ATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTC c.1560
M Q H A V Y V Y D I C H V I I D N L Q F p.520
. . . | 04 . . . g.8361
ATGATGGGTCACGAGCAGCTGTCCACAGACAG | GATCGCAGCTCAAGACTACATCATCGGG c.1620
M M G H E Q L S T D R | I A A Q D Y I I G p.540
. . . . . . g.8421
GTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGG c.1680
V F R K F A T D N N C H V T L V I H P R p.560
. . . . . | 05 . g.10660
AAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAA | GCAAGC c.1740
K E D D D K E L Q T A S I F G S A K | A S p.580
. . . . . . g.10720
CAGGAAGCAGACAATGTTCTGATCCTGCAGGACAGGAAGCTGGTAACCGGGCCAGGGAAA c.1800
Q E A D N V L I L Q D R K L V T G P G K p.600
. . . . . . g.10780
CGGTATCTGCAGGTGTCCAAGAACCGCTTTGATGGAGATGTAGGTGTCTTCCCGCTTGAG c.1860
R Y L Q V S K N R F D G D V G V F P L E p.620
. . . . . . g.10840
TTCAACAAGAACTCCCTCACCTTCTCCATTCCACCAAAGAACAAGGCCCGGCTCAAGAAG c.1920
F N K N S L T F S I P P K N K A R L K K p.640
. . . . . . g.10900
ATCAAGGATGACACTGGACCAGTGGCCAAAAAGCCCTCTTCTGGCAAAAAGGGGGCTACG c.1980
I K D D T G P V A K K P S S G K K G A T p.660
. . . . . . g.10960
ACACAGAACTCTGAGATTTGCTCAGGCCAGGCCCCCACTCCCGACCAGCCAGACACCTCC c.2040
T Q N S E I C S G Q A P T P D Q P D T S p.680
. g.10975
AAGCGTTCAAAGTGA c.2055
K R S K X p.684
. . . . . . g.11035
aggccgtgcagagctggtcactgaaatgagcctgataggataggctggagcataaaactc c.*60
. . . . . . g.11095
tgcaagggctcctctatcctgtggtcctgagctgtgtgcccttctcagtctgaggggcct c.*120
. . . . . . g.11155
aacctagagcaggtttccatagtgagaaaattcaatgtagcagactactgagaaactact c.*180
. . . . . . g.11215
gtgttgctcaggctttgtttgaggtcctgtatatacagcactgaaaagagagataaagtc c.*240
. . . . . . g.11275
cctgcctgcatgcattctggcggaagagacaagcaagcaatgaacaaattagcagaaaac c.*300
. . . . . . g.11335
ctagttttagtgaaaaatgctgtaaagaaaatagaaatgcgatagagtgctggcaggcta c.*360
. . . . . . g.11395
gtgtagataagtggtctgaaaaggtgtctctgagccgagggcatgtgagctggggcctaa c.*420
. . . . . . g.11455
acaactagaaggagagagccacgtgaacatccggcgaaggggacccaggcagagagaaaa c.*480
. . . . . . g.11515
ggaaatccaagccctgaggtaggaatgagcaggtcagattcaaggcagtgaggtcaggcc c.*540
. . . . . . g.11575
gcatgaacctggaggggaatcggggacttcatgcgaaactccagcctaggctttcaaagt c.*600
. . . . . . g.11635
caaagggtgatacagtgggtaccaagctcctctgctccccactttgtagagcctagcatg c.*660
. . . . . . g.11695
aggtggcatgtactagaattggatcctaggtgcttagccctgcaatatcagggcctcact c.*720
. . . . . . g.11755
ggtgggagctgcctcgggctgggttgcttggtcatagagccatagaaggaagctgtcagc c.*780
. . . . . . g.11815
ccggagtgcctgccacctagacactgatgccattgtgtgctgcctcaagactgctggagt c.*840
. . . . . g.11866
caggacattttatagagccttttccagttttactaaaaaatttttccattg c.*891
(downstream sequence)
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