(used for variant description)
(last modified October 25, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000097.5 in the CPOX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015994.1, covering CPOX transcript NM_000097.5.
(upstream sequence)
. . . . g.5047
ctttccgcctgtgcagctcgccggctcaatactccgggggtctgggt c.-61
. . . . . . g.5107
ggggggctcaaacgcagggctctgggacgcaggcactgctccaggtgatagtgcgggaac c.-1
. . . . . . g.5167
ATGGCCTTGCAGCTGGGCAGGCTGAGCTCGGGCCCCTGCTGGCTCGTGGCGCGGGGCGGC c.60
M A L Q L G R L S S G P C W L V A R G G p.20
. . . . . . g.5227
TGCGGAGGGCCCCGCGCCTGGTCCCAGTGCGGCGGCGGAGGGCTCCGAGCCTGGTCCCAG c.120
C G G P R A W S Q C G G G G L R A W S Q p.40
. . . . . . g.5287
CGCAGCGCAGCCGGACGCGTCTGCCGGCCCCCTGGCCCGGCTGGCACGGAGCAGAGCCGC c.180
R S A A G R V C R P P G P A G T E Q S R p.60
. . . . . . g.5347
GGGCTGGGGCACGGCTCGACGTCGAGAGGCGGCCCCTGGGTGGGGACAGGGCTGGCCGCG c.240
G L G H G S T S R G G P W V G T G L A A p.80
. . . . . . g.5407
GCGCTGGCGGGGTTGGTGGGGCTGGCCACCGCCGCCTTCGGGCATGTGCAGCGGGCGGAG c.300
A L A G L V G L A T A A F G H V Q R A E p.100
. . . . . . g.5467
ATGTTGCCTAAGACCTCGGGGACGCGGGCCACTTCGCTGGGGAGGCCGGAGGAGGAGGAG c.360
M L P K T S G T R A T S L G R P E E E E p.120
. . . . . . g.5527
GATGAGCTGGCCCACCGCTGCAGCAGCTTCATGGCCCCGCCTGTGACCGACCTGGGCGAG c.420
D E L A H R C S S F M A P P V T D L G E p.140
. . . . . . g.5587
CTGCGAAGGAGGCCGGGCGACATGAAGACCAAGATGGAGCTGCTGATTCTGGAGACCCAG c.480
L R R R P G D M K T K M E L L I L E T Q p.160
. . . . . . g.5647
GCCCAGGTGTGCCAGGCTCTGGCACAGGTAGACGGGGGCGCCAACTTTTCTGTGGACCGG c.540
A Q V C Q A L A Q V D G G A N F S V D R p.180
. | 02 . . . . . g.7500
TGGGAGAGGAAGGAAG | GAGGTGGCGGCATCAGCTGTGTACTTCAAGATGGGTGTGTTTTC c.600
W E R K E G | G G G I S C V L Q D G C V F p.200
. . . . . . g.7560
GAAAAGGCTGGGGTGAGCATTTCTGTTGTTCATGGAAATCTTTCAGAGGAAGCTGCAAAA c.660
E K A G V S I S V V H G N L S E E A A K p.220
. . . . | 03 . . g.7889
CAAATGAGAAGCAGAGGAAAAGTTCTGAAGACTAAAGATG | GTAAATTGCCATTTTGTGCT c.720
Q M R S R G K V L K T K D G | K L P F C A p.240
. . . . . . g.7949
ATGGGCGTGAGCTCTGTTATCCACCCCAAGAATCCTCATGCTCCTACTATCCATTTCAAC c.780
M G V S S V I H P K N P H A P T I H F N p.260
. . . | 04 . . . g.9786
TACAGATACTTTGAAGTAGAAGAAGCTGATG | GCAACAAGCAGTGGTGGTTTGGTGGTGGA c.840
Y R Y F E V E E A D G | N K Q W W F G G G p.280
. . . . . . g.9846
TGTGACCTCACTCCAACATACTTGAATCAAGAAGACGCTGTCCATTTTCACAGAACTCTG c.900
C D L T P T Y L N Q E D A V H F H R T L p.300
. . . . . | 05 . g.12959
AAGGAGGCTTGTGACCAGCATGGTCCAGATCTCTACCCCAAATTTAAAAAATG | GTGTGAT c.960
K E A C D Q H G P D L Y P K F K K W | C D p.320
. . . . . . g.13019
GATTACTTCTTTATAGCCCATCGTGGAGAACGGCGGGGCATTGGTGGTATCTTTTTTGAT c.1020
D Y F F I A H R G E R R G I G G I F F D p.340
. . . . . . g.13079
GATCTTGACTCTCCGTCCAAGGAGGAGGTGTTTCGCTTTGTACAGAGCTGTGCCAGGGCT c.1080
D L D S P S K E E V F R F V Q S C A R A p.360
. . . . . . g.13139
GTAGTTCCTTCTTACATTCCCCTTGTGAAAAAGCACTGTGATGACTCATTCACCCCCCAG c.1140
V V P S Y I P L V K K H C D D S F T P Q p.380
. . . | 06 . . . g.17128
GAGAAGCTGTGGCAGCAGCTCAGAAGAGGACG | GTATGTAGAATTTAATCTGCTGTATGAT c.1200
E K L W Q Q L R R G R | Y V E F N L L Y D p.400
. . . . . . g.17188
CGGGGCACAAAGTTTGGCCTCTTCACTCCAGGATCCAGAATTGAAAGTATCTTGATGTCT c.1260
R G T K F G L F T P G S R I E S I L M S p.420
. | 07. . . . . g.17884
TTACCTCTAACTGCCCG | ATGGGAGTACATGCATTCACCCTCAGAGAATTCCAAAGAAGCT c.1320
L P L T A R | W E Y M H S P S E N S K E A p.440
. . . . g.17929
GAAATTCTGGAAGTTCTACGCCATCCAAGGGACTGGGTGCGTTGA c.1365
E I L E V L R H P R D W V R X p.454
. . . . . . g.17989
tgcaggcagaatggctgtgcaggggtttggagggcacacgatgtgtgctccccatgccac c.*60
. . . . . . g.18049
tggtcggcactttgccactgtgtggcagttacccgtgccttagtcttctccactctgcac c.*120
. . . . . . g.18109
cctacctcgtgggcagatgataacatgttttggatgctgtcagtgatgaatggtgagatg c.*180
. . . . . . g.18169
gcagattgtcagagtcaattgattaaacctcatttatacttctagtgtcattttatatga c.*240
. . . . . . g.18229
ctagtttacaaaataggacattgagtttccaagtattgagataagggaatataaatagta c.*300
. . . . . . g.18289
ttatatgtatcaggaaatctctcatcttgtttttgtttcatgtattttttaaagttttca c.*360
. . . . . . g.18349
tttgtgccacaaaaatctgtcgtggaatatattttattttcattaattcagtgaagttga c.*420
. . . . . . g.18409
gacttcatagtaattttagaatgcaacttgaaggtaaaaattttactttgtcaatactga c.*480
. . . . . . g.18469
agtctctgctgtaatccttatatatctttctccagagaacataatattgtcaaatagata c.*540
. . . . . . g.18529
cacatttttctaataggtatttagaagcacttgaaataatctctgcatgtgttacaattc c.*600
. . . . . . g.18589
agttatttctgtagtttgtaaactctaaagtgacattactattattttagagatgtctaa c.*660
. . . . . . g.18649
gttgtaattttgatttttgtggaaccattgtttgttaatgttgggattctctgcactttt c.*720
. . . . . . g.18709
gaatgtgaaagcttatatccctgaattctgatacttaagagttttctatttcagacatct c.*780
. . . . . . g.18769
ctgtgtggaagttgagactaagaataatcctagggatgtcatgaatttaggcaatgtttc c.*840
. . . . . . g.18829
tcatttggaaaatgaaatgagaaataatttccttctttaaagcaagtatatatagtatga c.*900
. . . . . . g.18889
gaaacttggaggcatttcatacacacgtttcttaggaaaatggacacattgaaaatgtcc c.*960
. . . . . . g.18949
tcttttttatattagagattctgcagctctttgctcttaagagcaaatcacaacaggatt c.*1020
. . . . . . g.19009
cttaatgtatgatttctttgttcatatattatgaatgtattattttatttgcttcgtaat c.*1080
. . . . . . g.19069
aaagtttataaggaagagcatctcatacatatcattatcgtggaacacgttgaatgtttg c.*1140
. . . . . . g.19129
tgattctgtgtggcctttttggggctggaaaatgtatgaattcttcaactgtcttacaag c.*1200
. . . g.19166
agatctgctaataaattttattattaaataagactaa c.*1237
(downstream sequence)
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