(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_177965.3 in the C8orf37 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032804.1, covering C8orf37 transcript NM_177965.3.
(upstream sequence)
. . . . g.5045
accggagccttggcgattggaggggaaaaggccaggcgattcaag c.-1
. . . . . . g.5105
ATGGCGGAGGACCTGGACGAGCTCTTGGATGAAGTCGAGTCCAAGTTTTGCACACCTGAC c.60
M A E D L D E L L D E V E S K F C T P D p.20
. . . . . . g.5165
CTTCTAAGACGGGGTATGGTCGAGCAGCCCAAAGGCTGCGGCGGCGGCACCCACAGTAGC c.120
L L R R G M V E Q P K G C G G G T H S S p.40
. . . | 02 . . . g.10485
GACCGGAACCAAGCCAAGGCGAAAGAGACGCTCAG | ATCAACAGAAACATTTAAAAAAGAA c.180
D R N Q A K A K E T L R | S T E T F K K E p.60
. . . . . . g.10545
GATGATCTTGACAGTCTTATTAATGAAATACTTGAAGAGCCCAACTTGGACAAAAAACCC c.240
D D L D S L I N E I L E E P N L D K K P p.80
| 03 . . . . . . g.13759
TCT | AAATTAAAATCTAAATCTTCAGGTAACACATCTGTCAGAGCTTCCATTGAAGGCCTT c.300
S | K L K S K S S G N T S V R A S I E G L p.100
| 04 . . . . . g.14381
GGTAAAAG | TTGCAGTCCGGTGTACCTTGGTGGAAGCTCTATTCCATGTGGGATTGGAACA c.360
G K S | C S P V Y L G G S S I P C G I G T p.120
. | 05 . . . . . g.21997
AATATTTCATGGAG | AGCATGTGACCATCTGCGTTGTATAGCCTGTGATTTCTTGGTAGTC c.420
N I S W R | A C D H L R C I A C D F L V V p.140
. . . . . | 06 . g.26474
AGCTATGATGACTATATGTGGGACAAATCGTGTGATTATCTGTTTTTCAG | GAACAACATG c.480
S Y D D Y M W D K S C D Y L F F R | N N M p.160
. . . . . . g.26534
CCAGAATTTCACAAATTAAAAGCAAAGTTGATAAAGAAGAAAGGAACACGGGCATATGCC c.540
P E F H K L K A K L I K K K G T R A Y A p.180
. . . . . . g.26594
TGCCAGTGTAGCTGGAGAACTATTGAAGAAGTGACTGACCTTCAGACAGATCATCAGCTT c.600
C Q C S W R T I E E V T D L Q T D H Q L p.200
. . g.26618
CGCTGGGTTTGTGGTAAACATTAA c.624
R W V C G K H X p.207
. . . . . . g.26678
gaatgcagactgcacattcggacagatgcatccatgagagtggtctccatgaatcatcat c.*60
. . . . . . g.26738
catgtttagacaatagtccctagcaataccattccctgtgggaaaaggcagtgaatttta c.*120
. . . . . . g.26798
ttgatacaactacatacatttttgaagaccaaatggactaaggaagatcatgtattataa c.*180
. . . . . . g.26858
cactttggaattattcctgatacatggatgtttcacttagtaacaggcatctacattctt c.*240
. . . . . . g.26918
tactaatctgtcttctgtttaatagaggtttgattatggagttccatacaaatatctagt c.*300
. . . . . . g.26978
ttttcattagcaactgcaatattgattgctaatacgtttagcaaatcattccccaacttg c.*360
. . . . . . g.27038
tagcagttaaagtggataaagccggccagggcaaagagatcatttaggggtgtctacaac c.*420
. . . . . . g.27098
acttcttccagtcagatcttttgttgccaaagatcataatttggacatggcagaaaccag c.*480
. . . . . . g.27158
gtgatcagtggctgactgaagggtgttcagaagtagttacaggtattttgcaaaaacact c.*540
. . . . . . g.27218
gcctcatagctgatcttacctcatcaactcaaagcaatgttatgcacaatattaaataca c.*600
. . . . . . g.27278
tgttaccagttttagcttatttttccctcttttgttcatttaactatcaaaagttatttt c.*660
. . . . . . g.27338
ctattttgattacccaataatatataaaaagagtttgatgcacccaaaatcacaaaaatc c.*720
. . . . . . g.27398
ctaatacatacaggttattgttggattttccaagtactttctatcctttaatgcctaaaa c.*780
. . . . . . g.27458
ctccatcaagggaagtaaacagcaagtaatataatttttcaggcagcctgtggacttctc c.*840
. . . . . . g.27518
tggtaggatcaggttgacatatcgtttattaggtgagtaagtgaaaagacaagtaaagca c.*900
. . . . . . g.27578
taactgaaccaacaggtaacctgttgggctccttcctgacatcactgagatctgaggagc c.*960
. . . . . . g.27638
cctacaatagcagcacattcaggaaatcaggtccctcaaaatttctagctcccaacccca c.*1020
. . . . . . g.27698
ttgagagattttgggagctttccaatctgccacaaactccctgctacatatgtactatat c.*1080
. . . . . . g.27758
agttcaaatgtgtgatacagagcaccctgaaagggaataattgaaacaaagttataatct c.*1140
. . . . . . g.27818
tcttagtcttatgctaaatttattccagccaccctactgaagggaggaagatctgatcat c.*1200
. . . . . . g.27878
tagaatccttttcctagccatgacacatttacatacttgtaaaatttattgtagtaagtc c.*1260
. . . . . . g.27938
tagcattgcaacagaatagatcttataatggccaatcctcacacttttgtattaaggata c.*1320
. . . . . . g.27998
ttatgacagactaagcatggtagctcacgcctgtaatcccagcactttgggaggctgagg c.*1380
. . . . . . g.28058
caggcagatcagctgaggtcaggagttcaagaccagcctggccaacatgataaaacacca c.*1440
. . . . . . g.28118
tctctactaaaaatacaaaaattagctgggcgcggtggtgcatgcctgtaatcccaacta c.*1500
. . . . . . g.28178
ctcgggaggccgaggcaggaaaatttattgaacctgggaggcagaggttgtagtgagcca c.*1560
. . . . . . g.28238
aggtcgcgccactgcgctccagcctggacaacacagtgagactctgtctcaaaaaaaaaa c.*1620
. . . . . . g.28298
aaaagacattatgacagattttatcttttaataaaaatgtattatatccctaaagttata c.*1680
. . . . . . g.28358
tctatatgtaattgagtcagaaacctagggggatgtcgattgaagtcgactgctggaaaa c.*1740
. . . . . . g.28418
aaatagcagagcaacaagatccacacatttagaacctcatagaatttgacacattattca c.*1800
. . . . . . g.28478
taatggtgcaattctttcttttttattccagtaagcaaatttactaaatcactaatttga c.*1860
. . . . . . g.28538
aaaaaaaaattttttttttgagatggagtgtcactctgttgccgggctggagtgcagtgg c.*1920
. . . . . . g.28598
cacgatctctgctcactgcaacctccgcctcgcagcttcaagtgattgtcctgcctcagc c.*1980
. . . . . . g.28658
ctccccagtagctgggattacaggcacacaccaccacgcccagctaatttttgtattttt c.*2040
. . . . . . g.28718
aatagagacagggtttcaccatgttggccagaatgatgtcgatctcctgaactcgtgatc c.*2100
. . . . . . g.28778
cgcccgcctcagcctcccaaagtagcctacattgcctctactttgaagggacaaagttgt c.*2160
. . . . . . g.28838
cctggtttttttttcccttttattatttcattataactatcctaaaacttacatacattg c.*2220
. . . . . . g.28898
cctatgtttggcattccataacataataattataataatcccccaatgtcagaaatgtat c.*2280
. . . . . . g.28958
gtgtgagttcccatgtttattggcaatttataagctttttaatattgtactattttaaac c.*2340
. . . . . . g.29018
taaaatgtagaaagaatattatgtttatatacagtcagataaattattaactgttgtaat c.*2400
. . . . . . g.29078
ttaagctgaaaatgaaactattttagtatcagtatagaagaaaagtatagtttctaatca c.*2460
. . . . . . g.29138
tctataattttaaaatgcaaagcctataaaactttcaagatgttttgcctgtttgttttt c.*2520
. . . . . . g.29198
aagatttataataattttctatctttagcaagtagctatttttaagccaggtaacttctt c.*2580
. . . . . . g.29258
tatttgaactgtattatactctcagaccctcatcctgcctagaaatgaataagtaataaa c.*2640
. . . . . . g.29318
taattactctgtattatttacttcttttattttatagtaaaatattcatttggatggaca c.*2700
g.29322
ttaa c.*2704
(downstream sequence)
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