(used for variant description)
(last modified August 24, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_032436.2 in the CHAMP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering CHAMP1 transcript NM_032436.2.
(upstream sequence)
. . . g.5032
agcgcgcacgctcgcgcacccggatcccggct c.-301
. . . . . . g.5092
cctgcatccagtcgccattcgggaggccgctgcgctgcagggcctcgcggagccgcccgc c.-241
. . . . . . g.5152
gaccgcgagccgggccctccgcgcggtccatcgcccactggacgccgcccgcggccggac c.-181
. | 02 . . . . . g.11678
cg | gttcaacttctcatctttgttcttcttcatatactataggctgtttgctgtggtttag c.-121
. . . . . . g.11738
tcaaaaagccatgtagaatgcctgccttttgaagaccacttttaaggtgtctagtaagac c.-61
. | 03 . . . . . g.14353
agcag | cagtattgaaagtttttaaagaatataaccgtgtgtgttggtaacagacagaaga c.-1
. . . . . . g.14413
ATGGAAGCATTCCAGGAACTTCGTAAACCATCAGCACGTTTGGAGTGTGACCATTGCAGT c.60
M E A F Q E L R K P S A R L E C D H C S p.20
. . . . . . g.14473
TTCAGAGGCACAGACTATGAAAATGTACAAATCCATATGGGTACCATCCATCCAGAATTT c.120
F R G T D Y E N V Q I H M G T I H P E F p.40
. . . . . . g.14533
TGTGATGAAATGGATGCTGGTGGGCTAGGCAAAATGATATTTTACCAGAAAAGTGCAAAG c.180
C D E M D A G G L G K M I F Y Q K S A K p.60
. . . . . . g.14593
TTATTTCACTGCCATAAATGCTTCTTCACCAGCAAGATGTACTCTAATGTATACTATCAC c.240
L F H C H K C F F T S K M Y S N V Y Y H p.80
. . . . . . g.14653
ATCACATCCAAACATGCATCCCCAGACAAATGGAATGATAAACCAAAAAATCAGTTGAAC c.300
I T S K H A S P D K W N D K P K N Q L N p.100
. . . . . . g.14713
AAAGAAACAGATCCTGTGAAAAGCCCTCCTCTTCCTGAACACCAGAAAATACCCTGCAAT c.360
K E T D P V K S P P L P E H Q K I P C N p.120
. . . . . . g.14773
TCAGCAGAACCAAAATCCATACCTGCCCTTTCAATGGAAACACAGAAACTTGGTTCAGTT c.420
S A E P K S I P A L S M E T Q K L G S V p.140
. . . . . . g.14833
TTGTCTCCAGAATCGCCAAAACCTACTCCTCTTACTCCCCTGGAGCCTCAGAAACCTGGC c.480
L S P E S P K P T P L T P L E P Q K P G p.160
. . . . . . g.14893
TCTGTTGTTTCTCCTGAGCTACAGACACCTCTTCCTTCTCCTGAGCCTTCAAAACCTGCC c.540
S V V S P E L Q T P L P S P E P S K P A p.180
. . . . . . g.14953
TCTGTTTCTTCTCCTGAACCTCCAAAATCAGTCCCTGTTTGTGAGTCTCAGAAACTTGCC c.600
S V S S P E P P K S V P V C E S Q K L A p.200
. . . . . . g.15013
CCTGTTCCTTCTCCAGAACCACAGAAACCTGCCCCTGTATCTCCTGAGTCAGTAAAGGCT c.660
P V P S P E P Q K P A P V S P E S V K A p.220
. . . . . . g.15073
ACTCTTAGTAATCCCAAACCCCAGAAGCAGTCTCATTTCCCGGAAACATTGGGGCCACCT c.720
T L S N P K P Q K Q S H F P E T L G P P p.240
. . . . . . g.15133
TCAGCCTCATCTCCAGAGTCACCAGTTCTAGCTGCTTCCCCAGAACCTTGGGGACCATCC c.780
S A S S P E S P V L A A S P E P W G P S p.260
. . . . . . g.15193
CCAGCTGCATCTCCAGAATCTCGGAAGTCAGCCCGGACTACCTCCCCTGAGCCAAGGAAG c.840
P A A S P E S R K S A R T T S P E P R K p.280
. . . . . . g.15253
CCATCCCCTTCAGAGTCTCCTGAACCTTGGAAGCCGTTCCCTGCTGTCTCCCCAGAGCCT c.900
P S P S E S P E P W K P F P A V S P E P p.300
. . . . . . g.15313
AGGAGACCAGCCCCCGCTGTGTCACCAGGCTCTTGGAAACCAGGGCCACCTGGGTCCCCT c.960
R R P A P A V S P G S W K P G P P G S P p.320
. . . . . . g.15373
AGGCCTTGGAAATCCAATCCTTCAGCATCATCAGGACCTTGGAAGCCAGCTAAACCTGCT c.1020
R P W K S N P S A S S G P W K P A K P A p.340
. . . . . . g.15433
CCATCTGTGTCTCCTGGACCTTGGAAACCAATTCCTTCTGTATCTCCTGGACCTTGGAAA c.1080
P S V S P G P W K P I P S V S P G P W K p.360
. . . . . . g.15493
CCAACTCCATCTGTGTCTTCTGCATCCTGGAAATCTTCATCAGTCTCACCCAGCTCCTGG c.1140
P T P S V S S A S W K S S S V S P S S W p.380
. . . . . . g.15553
AAGTCTCCCCCTGCATCTCCTGAGTCATGGAAGTCTGGCCCACCAGAACTCCGAAAGACA c.1200
K S P P A S P E S W K S G P P E L R K T p.400
. . . . . . g.15613
GCTCCCACGTTGTCTCCTGAACATTGGAAGGCAGTTCCCCCAGTGTCTCCAGAGCTTCGC c.1260
A P T L S P E H W K A V P P V S P E L R p.420
. . . . . . g.15673
AAACCCGGCCCACCACTATCCCCAGAGATCCGTAGTCCAGCAGGATCTCCAGAGCTCAGA c.1320
K P G P P L S P E I R S P A G S P E L R p.440
. . . . . . g.15733
AAACCCTCAGGGTCACCAGATCTTTGGAAGCTTTCTCCTGATCAGCGGAAAACTTCTCCT c.1380
K P S G S P D L W K L S P D Q R K T S P p.460
. . . . . . g.15793
GCTTCACTTGATTTCCCTGAGTCCCAGAAAAGTTCCCGTGGTGGTTCTCCTGATCTCTGG c.1440
A S L D F P E S Q K S S R G G S P D L W p.480
. . . . . . g.15853
AAGTCTTCCTTTTTTATTGAGCCTCAGAAACCTGTCTTCCCTGAGACCCGAAAACCAGGT c.1500
K S S F F I E P Q K P V F P E T R K P G p.500
. . . . . . g.15913
CCTTCTGGGCCATCTGAGTCCCCCAAAGCAGCCTCAGATATCTGGAAGCCTGTTCTCTCT c.1560
P S G P S E S P K A A S D I W K P V L S p.520
. . . . . . g.15973
ATCGATACTGAGCCTAGAAAACCTGCCCTGTTTCCCGAGCCTGCCAAAACAGCCCCTCCT c.1620
I D T E P R K P A L F P E P A K T A P P p.540
. . . . . . g.16033
GCTTCTCCAGAAGCACGCAAACGTGCCCTTTTTCCAGAGCCCCGGAAGCATGCCCTTTTC c.1680
A S P E A R K R A L F P E P R K H A L F p.560
. . . . . . g.16093
CCTGAACTCCCCAAATCTGCTCTATTCTCAGAATCACAGAAGGCTGTTGAGCTTGGTGAT c.1740
P E L P K S A L F S E S Q K A V E L G D p.580
. . . . . . g.16153
GAACTACAAATAGATGCCATAGATGATCAAAAATGTGATATTTTGGTTCAGGAAGAACTT c.1800
E L Q I D A I D D Q K C D I L V Q E E L p.600
. . . . . . g.16213
CTAGCTTCACCTAAGAAACTCTTAGAAGATACTTTATTTCCTTCCTCAAAGAAGCTCAAG c.1860
L A S P K K L L E D T L F P S S K K L K p.620
. . . . . . g.16273
AAAGACAACCAAGAGAGCTCAGACGCTGAGCTTAGTAGTAGTGAGTACATAAAAACAGAT c.1920
K D N Q E S S D A E L S S S E Y I K T D p.640
. . . . . . g.16333
TTGGATGCGATGGATATTAAGGGCCAGGAATCAAGCAGTGATCAAGAGCAGGTTGATGTG c.1980
L D A M D I K G Q E S S S D Q E Q V D V p.660
. . . . . . g.16393
GAATCCATTGATTTTAGCAAAGAGAACAAAATGGACATGACTAGTCCAGAGCAGTCTAGA c.2040
E S I D F S K E N K M D M T S P E Q S R p.680
. . . . . . g.16453
AATGTGCTACAGTTTACTGAAGAAAAAGAAGCTTTTATCTCTGAAGAGGAGATTGCAAAA c.2100
N V L Q F T E E K E A F I S E E E I A K p.700
. . . . . . g.16513
TACATGAAGCGTGGAAAAGGAAAGTATTATTGCAAAATTTGTTGCTGTCGTGCTATGAAA c.2160
Y M K R G K G K Y Y C K I C C C R A M K p.720
. . . . . . g.16573
AAAGGTGCTGTTTTGCATCATTTGGTTAATAAGCATAATGTTCATAGCCCTTACAAATGC c.2220
K G A V L H H L V N K H N V H S P Y K C p.740
. . . . . . g.16633
ACAATCTGTGGAAAGGCTTTTCTTTTGGAATCTCTCCTTAAAAATCATGTAGCAGCCCAT c.2280
T I C G K A F L L E S L L K N H V A A H p.760
. . . . . . g.16693
GGGCAAAGTTTACTTAAATGTCCACGTTGTAATTTTGAATCAAATTTCCCAAGAGGTTTT c.2340
G Q S L L K C P R C N F E S N F P R G F p.780
. . . . . . g.16753
AAGAAACATTTAACTCATTGTCAAAGCCGGCATAATGAAGAGGCAAATAAAAAGCTAATG c.2400
K K H L T H C Q S R H N E E A N K K L M p.800
. . . g.16792
GAAGCTCTTGAACCGCCACTGGAGGAGCAGCAAATTTGA c.2439
E A L E P P L E E Q Q I X p.812
. . . . . . g.16852
taacacagtgtgaatatttgttctacaaaggtgtttgttggaaccattctttgtaagtat c.*60
. . . . . . g.16912
agcttatcagatagcatagttggatcagtagatgacatgtatggtgtaccgtgtttcact c.*120
. . . . . . g.16972
gtctcagttgtgttactaagaatgagcatttgatcatttttttctggtctctgtctatgt c.*180
. . . . . . g.17032
gactatcttgtaagtcaataaatttctgtatagtccagatggattaaacttctcatttct c.*240
. . . . . . g.17092
tttaaatatgtatgaataataatacaaggaagtaggcattccatttaataatcaagagca c.*300
. . . . . . g.17152
agttgtactcaaagcattcagttaaagtgtatctgtgtgtggaactaatttcagacaata c.*360
. . . . . . g.17212
gaaaatattagttgaaatgtttaagaattaggcatgaaaaataaatttgagaaattttgt c.*420
. . . . . . g.17272
ttccttacatgtatttttaaatcataagagttattttctatctgatgtaaaattagttta c.*480
. . . . . . g.17332
taaatcttaatcagcttctagatgtttattagcttttatgtcatgaaatgttggagtctc c.*540
. . . . . . g.17392
agggttgctgattttctgctaatgggaaaaattgactaagtctttaaaatagtttgcagc c.*600
. . . . . . g.17452
cttctcccacaggagacaagtgaaagataagtgtgattttagatctttcttgtccatagt c.*660
. . . . . . g.17512
tgttttcagtggagtcttccattctgtatcttaccctaagatctggttcttccctcccca c.*720
. . . . . . g.17572
tccccaccccccacccaccgcctgccagctcacactaatagatgattcttaattgccaaa c.*780
. . . . . . g.17632
tgtgttagagtttgtatatcctactcctgggccttacatgtcgcctgttggggcttaaga c.*840
. . . . . . g.17692
ccaggttgataagtaggaactgaaagtcttccagattcacagtagaaaattttatagaca c.*900
. . . . . . g.17752
tttctgttaaagaaatatatcgattttatgtttttcaattatgttactgtaaataccttg c.*960
. . . . . . g.17812
tacctgttcatggattattttattctaaaatattttgtcaaatgtgtatcaaccaaatta c.*1020
. . g.17839
aaaagaaaggttttcatgtcagcaaca c.*1047
(downstream sequence)
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