(used for variant description)
(last modified June 16, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_014516.3 in the CNOT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering CNOT3 transcript NM_014516.3.
(upstream sequence)
. . g.5024
agagacgagaagagaggaggggag c.-301
. . . . . . g.5084
gcctcctccgccgccgccatcttggaccgggcccggtcagcttccgcggagccatcggca c.-241
. . . . . . g.5144
gacgccgcggcctcccttgagccccgacccccgtcgtcagaacaaccccgggcccactcc c.-181
. . . . . . g.5204
cccaaccccacttccgcttcgcgccgctatcgcgatagcgcccgggcccggggcgcgaga c.-121
. . . . . . g.5264
aaaaggcggcgggcgctcgcctcccccgcctgtcgcgatacgctcctcagcggcggcgcc c.-61
. | 02 . . . . g.10279
agctcctgtg | cgtccgtctccaagagagtatgaagagagtgcgtctgtagggcagggaag c.-1
. . | 03 . . . . g.10454
ATGGCGGACAAGCGCAAACTCCAAG | GTGAGATTGATCGCTGCCTCAAGAAGGTGTCCGAG c.60
M A D K R K L Q G | E I D R C L K K V S E p.20
. . . | 04 . . . g.10769
GGCGTGGAGCAGTTTGAAGATATTTGGCAGAAG | CTCCACAATGCAGCCAACGCGAACCAG c.120
G V E Q F E D I W Q K | L H N A A N A N Q p.40
. . . . | 05 . g.10972
AAAGAAAAGTATGAGGCTGACCTAAAGAAGGAGATTAAGAAGCTACAA | CGGCTGAGGGAC c.180
K E K Y E A D L K K E I K K L Q | R L R D p.60
. . . . . . g.11032
CAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAAC c.240
Q I K T W V A S N E I K D K R Q L I D N p.80
. | 06 . . . . g.11348
CGCAAGCTCATTGAGACG | CAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACC c.300
R K L I E T | Q M E R F K V V E R E T K T p.100
. . . . . . g.11408
AAAGCTTACAGCAAAGAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAG c.360
K A Y S K E G L G L A Q K V D P A Q K E p.120
. . | 07. . . . g.11570
AAGGAAGAGGTTGGCCAGTGGCTCACG | AATACCATCGACACGCTCAACATGCAGGTGGAC c.420
K E E V G Q W L T | N T I D T L N M Q V D p.140
. . . . . . g.11630
CAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAG c.480
Q F E S E V E S L S V Q T R K K K G D K p.160
| 08 . . . . . . g.12955
GAT | AAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAGCACCGCTACCACGTG c.540
D | K Q D R I E G L K R H I E K H R Y H V p.180
. . . . . . g.13015
CGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATC c.600
R M L E T I L R M L D N D S I L V D A I p.200
. . . . . . g.13075
CGCAAGATCAAGGACGACGTTGAGTACTATGTTGACTCATCCCAGGACCCCGACTTCGAG c.660
R K I K D D V E Y Y V D S S Q D P D F E p.220
. . . . | 09 . . g.13227
GAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTC | CACAGGCGCTGGTCGCC c.720
E N E F L Y D D L D L E D I P | Q A L V A p.240
. . . . . . g.13287
ACCTCCCCTCCCAGCCACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACG c.780
T S P P S H S H M E D E I F N Q S S S T p.260
. . . . . | 10. g.13904
CCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCAACTGTACCACG | GAA c.840
P T S T T S S S P I P P S P A N C T T | E p.280
. . . . . | 11 . g.15453
AACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAG | TCTCCA c.900
N S E D D K K R G R S T D S E V S Q | S P p.300
. . . . . . g.15513
GCCAAAAACGGCTCCAAGCCTGTCCACAGCAACCAGCACCCTCAGTCCCCAGCTGTGCCG c.960
A K N G S K P V H S N Q H P Q S P A V P p.320
. . . . . . g.15573
CCCACCTACCCCTCCGGCCCCCCGCCTGCTGCCTCTGCCTTGAGCACCACTCCTGGCAAC c.1020
P T Y P S G P P P A A S A L S T T P G N p.340
. . . . . . g.15633
AATGGGGTCCCCGCCCCCGCAGCACCCCCAAGTGCCCTGGGCCCCAAGGCCAGTCCAGCT c.1080
N G V P A P A A P P S A L G P K A S P A p.360
. . . . . . g.15693
CCCAGCCACAACTCGGGCACCCCTGCTCCCTATGCCCAGGCTGTGGCCCCACCAGCTCCC c.1140
P S H N S G T P A P Y A Q A V A P P A P p.380
. . . . . . g.15753
AGTGGGCCCAGCACGACCCAGCCCCGGCCCCCCAGCGTCCAGCCTAGCGGAGGCGGAGGC c.1200
S G P S T T Q P R P P S V Q P S G G G G p.400
. . . . . . g.15813
GGCGGCAGCGGAGGTGGAGGGAGCAGCAGCAGTAGTAACAGCAGTGCCGGTGGAGGGGCT c.1260
G G S G G G G S S S S S N S S A G G G A p.420
. . | 12 . . . . g.15957
GGCAAGCAGAATGGCGCCACCA | GTTACAGCTCAGTTGTGGCAGACAGCCCGGCAGAGGTG c.1320
G K Q N G A T S | Y S S V V A D S P A E V p.440
. . . . . . g.16017
GCTTTGAGCAGCAGTGGGGGCAACAATGCCAGCAGCCAGGCCTTGGGCCCCCCTTCCGGC c.1380
A L S S S G G N N A S S Q A L G P P S G p.460
. . | 13 . . . . g.16893
CCCCACAACCCACCTCCCAGCACCTC | GAAGGAACCCAGTGCGGCAGCCCCAACGGGGGCT c.1440
P H N P P P S T S | K E P S A A A P T G A p.480
. . . . . . g.16953
GGGGGCGTGGCCCCAGGCTCAGGGAACAACTCAGGGGGACCCAGCCTCCTGGTGCCACTG c.1500
G G V A P G S G N N S G G P S L L V P L p.500
. . . . . . g.17013
CCTGTGAATCCTCCCAGCTCCCCAACGCCCAGCTTCAGTGATGCCAAGGCAGCCGGTGCC c.1560
P V N P P S S P T P S F S D A K A A G A p.520
. . . . | 14 . . g.19542
CTGCTCAATGGGCCTCCACAGTTCAGCACCGCCCCAGAAATCAAG | GCCCCTGAGCCTCTG c.1620
L L N G P P Q F S T A P E I K | A P E P L p.540
. . . . . . g.19602
AGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTG c.1680
S S L K S M A E R A A I S S G I E D P V p.560
. . | 15 . . . . g.19764
CCAACGCTGCACCTGACCGAGCGAG | ACATCATCCTGAGCAGTACATCAGCACCTCCGGCC c.1740
P T L H L T E R D | I I L S S T S A P P A p.580
. . . . . . g.19824
TCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGT c.1800
S A Q P P L Q L S E V N I P L S L G V C p.600
. . . . . . g.19884
CCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCC c.1860
P L G P V P L T K E Q L Y Q Q A M E E A p.620
. . . . | 16 . . g.20184
GCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCG | GCAGTACCTCCCCCGG c.1920
A W H H M P H P S D S E R I R | Q Y L P R p.640
. . . . . . g.20244
AACCCCTGTCCGACGCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGTG c.1980
N P C P T P P Y H H Q M P P P H S D T V p.660
. . . . . | 17. g.21019
GAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAG | GGC c.2040
E F Y Q R L S T E T L F F I F Y Y L E | G p.680
. . . . . . g.21079
ACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACC c.2100
T K A Q Y L A A K A L K K Q S W R F H T p.700
. . . . . . g.21139
AAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAG c.2160
K Y M M W F Q R H E E P K T I T D E F E p.720
| 18 . . . . . . g.22668
CAG | GGCACCTACATCTACTTTGACTACGAGAAGTGGGGCCAGCGGAAGAAGGAAGGCTTC c.2220
Q | G T Y I Y F D Y E K W G Q R K K E G F p.740
. . . . g.22710
ACCTTTGAGTACCGCTACCTGGAGGACCGGGACCTCCAGTGA c.2262
T F E Y R Y L E D R D L Q X p.753
. . . . . . g.22770
caccggcccctccctctacccacccccttcccccgcatgctgatccccctgcccaggtga c.*60
. . . . . . g.22830
gggccctgccctggaagactggagggaggccccaagccacggggcatccccctctcccag c.*120
. . . . . . g.22890
gaagcagggagggggccgggaggttttcctctcagccccaccctgggggcccgggggcga c.*180
. . . . . . g.22950
gggctgccccctcctcccctccccagtgagggacattttttggtaaacctattttcattt c.*240
. . . . . . g.23010
tggaaaatatttatgaataaatagttttatatgacggctggcagcagcggcctctcctgt c.*300
g.23011
a c.*301
(downstream sequence)
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