(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018082.5 in the POLR3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031837.1, covering POLR3B transcript NM_018082.5.
(upstream sequence)
. . . . g.5042
accagagggcgtactttccttactcggcctcggccacatccg c.-181
. . . . . . g.5102
ggttccaccgcagattcgggcagggagcgggcggaacctttctaccgcgtctctagctaa c.-121
. . . . . . g.5162
cacgcacggcggggacagtttaggcctccgcgcaccgttcgccgggagtcttgcagtttg c.-61
. . . . . . g.5222
cttggtgcagggaaggcgggcgcggaggttctatctgtttcttcctccttcgtgagcagc c.-1
. . . . . . g.5282
ATGGACGTGCTAGCGGAGGAGTTTGGGAACCTGACTCCGGAGCAGCTGGCGGCGCCGATC c.60
M D V L A E E F G N L T P E Q L A A P I p.20
. | 02 . . . | 03 . . g.13873
CCGACTGTAGAG | GAAAAATGGAGGCTGCTTCCAGCATTTTTAAAG | GTGAAAGGCCTTGTG c.120
P T V E | E K W R L L P A F L K | V K G L V p.40
. . . . | 04 . . g.14018
AAACAGCATATAGATTCATTTAACTATTTCATTAATGTAGAG | ATAAAGAAGATAATGAAA c.180
K Q H I D S F N Y F I N V E | I K K I M K p.60
. . . . | 05. . g.16630
GCCAATGAAAAGGTTACAAGTGACGCTGACCCTATGTGGTACTTAAA | ATATCTTAATATC c.240
A N E K V T S D A D P M W Y L K | Y L N I p.80
. . . . . . g.16690
TATGTTGGGCTTCCTGATGTTGAAGAAAGCTTCAATGTAACTAGACCAGTGTCCCCTCAT c.300
Y V G L P D V E E S F N V T R P V S P H p.100
| 06 . . . . . . g.16982
GAG | TGCCGTTTGAGAGACATGACATACTCTGCCCCTATTACAGTGGATATTGAATATACC c.360
E | C R L R D M T Y S A P I T V D I E Y T p.120
. . . . | 07 . . g.23717
CGAGGCAGCCAGAGGATCATCCGCAATGCCTTACCTATCGGCAG | AATGCCCATAATGCTA c.420
R G S Q R I I R N A L P I G R | M P I M L p.140
. . . . . . g.23777
CGTAGTTCAAACTGTGTTCTTACAGGAAAAACGCCAGCAGAATTTGCCAAACTGAACGAA c.480
R S S N C V L T G K T P A E F A K L N E p.160
. | 08 . . . . . g.25653
TGTCCCTTAGATCCAG | GTGGCTACTTCATTGTTAAAGGAGTAGAAAAAGTTATTCTTATC c.540
C P L D P G | G Y F I V K G V E K V I L I p.180
. . . . . . g.25713
CAAGAGCAGCTGTCTAAGAACAGGATCATCGTGGAGGCTGATAGAAAAGGGGCTGTTGGA c.600
Q E Q L S K N R I I V E A D R K G A V G p.200
. | 09 . . . . . g.27419
GCTTCAGTTACCAG | CTCTACCCATGAGAAAAAAAGCAGAACCAATATGGCTGTGAAACAA c.660
A S V T S | S T H E K K S R T N M A V K Q p.220
. . . . . . g.27479
GGACGATTTTATTTGAGGCATAATACTTTGTCAGAAGATATACCCATTGTCATCATATTT c.720
G R F Y L R H N T L S E D I P I V I I F p.240
| 10 . . . . . . g.40430
AAG | GCCATGGGTGTTGAGAGTGACCAGGAAATTGTGCAGATGATTGGAACAGAGGAGCAC c.780
K | A M G V E S D Q E I V Q M I G T E E H p.260
. . . . . . g.40490
GTGATGGCTGCATTTGGGCCCAGTCTGGAAGAGTGCCAGAAAGCTCAGATTTTCACACAG c.840
V M A A F G P S L E E C Q K A Q I F T Q p.280
| 11 . . . . . . g.53253
ATGCAG | GCATTAAAATATATAGGGAACAAAGTAAGAAGGCAAAGGATGTGGGGAGGTGGA c.900
M Q | A L K Y I G N K V R R Q R M W G G G p.300
. . . . . . g.53313
CCAAAGAAAACCAAAATAGAAGAAGCAAGAGAGCTCCTGGCTTCCACCATTCTGACCCAT c.960
P K K T K I E E A R E L L A S T I L T H p.320
| 12 . . . . . . g.58222
GTCCCA | GTTAAGGAATTCAATTTCCGAGCCAAATGTATCTATACTGCAGTGATGGTGCGA c.1020
V P | V K E F N F R A K C I Y T A V M V R p.340
. . . . . . g.58282
AGAGTTATTCTGGCCCAAGGAGATAATAAAGTTGACGACAGAGATTATTATGGTAACAAG c.1080
R V I L A Q G D N K V D D R D Y Y G N K p.360
. . | 13 . . . . g.74578
CGACTGGAATTGGCAGGACAG | CTTTTATCTCTTCTTTTTGAAGACTTGTTCAAAAAATTT c.1140
R L E L A G Q | L L S L L F E D L F K K F p.380
. . . . . . g.74638
AATTCTGAAATGAAAAAGATTGCCGACCAGGTGATTCCTAAGCAAAGAGCAGCCCAGTTT c.1200
N S E M K K I A D Q V I P K Q R A A Q F p.400
. . . . . . g.74698
GATGTTGTCAAACACATGCGCCAAGACCAGATCACCAATGGCATGGTGAATGCTATTTCT c.1260
D V V K H M R Q D Q I T N G M V N A I S p.420
| 14 . . . . . . g.77672
ACC | GGAAATTGGTCTTTAAAGAGATTTAAAATGGACCGCCAGGGTGTAACCCAAGTGCTG c.1320
T | G N W S L K R F K M D R Q G V T Q V L p.440
. . . . . . g.77732
TCTCGCTTGTCATATATATCCGCACTGGGCATGATGACAAGAATCTCTTCCCAGTTTGAA c.1380
S R L S Y I S A L G M M T R I S S Q F E p.460
. . . . . . g.77792
AAAACGAGAAAAGTGAGTGGTCCTCGCTCCCTCCAGCCATCTCAGTGGGGAATGCTGTGT c.1440
K T R K V S G P R S L Q P S Q W G M L C p.480
. . | 15 . . . . g.79696
CCTTCGGACACTCCTGAAGGAGAG | GCATGTGGTTTGGTTAAAAACTTGGCCCTTATGACA c.1500
P S D T P E G E | A C G L V K N L A L M T p.500
. . . . . . g.79756
CACATCACAACTGATATGGAAGATGGACCCATTGTTAAATTAGCCAGTAACTTGGGAGTA c.1560
H I T T D M E D G P I V K L A S N L G V p.520
. . . . . . g.79816
GAAGATGTGAATTTATTATGTGGGGAAGAGCTCTCTTACCCAAATGTGTTTCTTGTCTTT c.1620
E D V N L L C G E E L S Y P N V F L V F p.540
| 16. . . . . . g.81114
CTTAATG | GTAACATCTTAGGTGTCATTCGAGACCACAAAAAGCTAGTGAATACATTTCGA c.1680
L N G | N I L G V I R D H K K L V N T F R p.560
. . . . . . g.81174
CTCATGAGAAGAGCAGGATATATCAATGAATTTGTTTCCATCTCAACAAATCTTACAGAT c.1740
L M R R A G Y I N E F V S I S T N L T D p.580
. . . . | 17 . . g.84418
CGATGTGTCTATATTTCTTCTGATGGGGGAAGGCTATGCAG | ACCCTACATAATTGTCAAG c.1800
R C V Y I S S D G G R L C R | P Y I I V K p.600
. . . . . | 18 . g.85027
AAACAGAAGCCAGCAGTCACAAATAAACATATGGAAGAGCTGGCCCAAGGGTACAG | GAAT c.1860
K Q K P A V T N K H M E E L A Q G Y R | N p.620
. . . . . . g.85087
TTTGAAGATTTCTTACATGAGAGTCTGGTTGAATATTTAGATGTGAATGAAGAAAATGAT c.1920
F E D F L H E S L V E Y L D V N E E N D p.640
. . . | 19 . . . g.91830
TGTAACATTGCACTGTACGAACACACAATTAATAA | AGACACCACCCACTTGGAGATTGAA c.1980
C N I A L Y E H T I N K | D T T H L E I E p.660
. . . . . . g.91890
CCCTTCACTCTTCTCGGCGTGTGTGCTGGACTTATCCCATACCCTCACCATAACCAGTCA c.2040
P F T L L G V C A G L I P Y P H H N Q S p.680
. . . . | 20 . . g.101861
CCGAGAAACACTTATCAGTGTGCCATGGGGAAACAAGCCATGG | GTACTATAGGATACAAC c.2100
P R N T Y Q C A M G K Q A M G | T I G Y N p.700
. . . . . . g.101921
CAGCGAAACAGAATTGATACTCTCATGTATCTACTAGCATATCCACAAAAACCCATGGTT c.2160
Q R N R I D T L M Y L L A Y P Q K P M V p.720
. . . . . . g.101981
AAGACAAAAACCATTGAATTGATAGAATTTGAGAAACTGCCAGCTGGACAGAATGCAACA c.2220
K T K T I E L I E F E K L P A G Q N A T p.740
. . . . . . g.102041
GTTGCTGTGATGAGCTATAGTGGCTATGATATTGAAGATGCTCTTGTTTTAAACAAGGCC c.2280
V A V M S Y S G Y D I E D A L V L N K A p.760
. | 21 . . . . . g.104527
TCTTTAGACAGAG | GCTTTGGGCGTTGCCTTGTATATAAAAATGCTAAATGTACGTTGAAA c.2340
S L D R G | F G R C L V Y K N A K C T L K p.780
. . . . . . g.104587
CGATACACCAATCAGACTTTTGATAAAGTGATGGGGCCCATGTTGGATGCTGCTACAAGG c.2400
R Y T N Q T F D K V M G P M L D A A T R p.800
. . . . . | 22 . g.106601
AAACCTATCTGGCGACATGAAATCTTAGATGCAGATGGTATTTGTTCTCCAG | GTGAGAAA c.2460
K P I W R H E I L D A D G I C S P G | E K p.820
. . . . . . g.106661
GTAGAAAACAAACAAGTGCTTGTAAATAAGTCCATGCCCACAGTGACTCAGATTCCTTTG c.2520
V E N K Q V L V N K S M P T V T Q I P L p.840
. . . . . | 23 . g.110830
GAAGGAAGTAATGTACCACAGCAACCACAGTACAAAGATGTACCCATAAC | CTACAAAGGA c.2580
E G S N V P Q Q P Q Y K D V P I T | Y K G p.860
. . . . . . g.110890
GCAACAGACTCATATATTGAAAAAGTGATGATATCTTCAAATGCTGAAGATGCTTTTCTG c.2640
A T D S Y I E K V M I S S N A E D A F L p.880
. . . . . . g.110950
ATCAAAATGCTGCTGAGACAGACAAGGCGTCCAGAAATTGGAGACAAATTCAGCAGTCGT c.2700
I K M L L R Q T R R P E I G D K F S S R p.900
. | 24 . . . . . g.143444
CATGGGCAAAAAG | GTGTTTGTGGCTTGATCGTCCCCCAGGAAGACATGCCATTTTGTGAT c.2760
H G Q K G | V C G L I V P Q E D M P F C D p.920
. . . . . | 25. g.144097
TCTGGCATCTGTCCGGACATCATCATGAACCCACACGGCTTCCCATCACGAATGACG | GTG c.2820
S G I C P D I I M N P H G F P S R M T | V p.940
. . . . . . g.144157
GGGAAGCTCATTGAGCTGCTGGCTGGCAAGGCCGGTGTGCTGGACGGCAGATTCCACTAC c.2880
G K L I E L L A G K A G V L D G R F H Y p.960
. . . . . . g.144217
GGCACTGCGTTTGGAGGCAGTAAAGTGAAGGATGTGTGTGAGGACCTCGTTCGCCATGGT c.2940
G T A F G G S K V K D V C E D L V R H G p.980
. . . . | 26 . . g.148681
TATAACTACTTGGGGAAAGACTATGTTACATCCGGCATCACAGG | TGAGCCCTTAGAAGCA c.3000
Y N Y L G K D Y V T S G I T G | E P L E A p.1000
. . . . . . g.148741
TACATCTATTTTGGCCCCGTGTACTATCAGAAGCTGAAACACATGGTGCTAGATAAAATG c.3060
Y I Y F G P V Y Y Q K L K H M V L D K M p.1020
. . . | 27 . . g.151445
CATGCCCGGGCCCGGGGCCCACGAGCCGTCCTTACCAG | GCAACCCACTGAAGGACGGTCT c.3120
H A R A R G P R A V L T R | Q P T E G R S p.1040
. . . . . . g.151505
CGTGATGGTGGCTTGCGTCTCGGGGAAATGGAACGTGACTGTTTAATCGGTTATGGAGCC c.3180
R D G G L R L G E M E R D C L I G Y G A p.1060
. . . . . . g.151565
AGTATGCTTTTGCTAGAGAGACTAATGATTTCAAGTGATGCCTTTGAGGTTGATGTCTGT c.3240
S M L L L E R L M I S S D A F E V D V C p.1080
. . . | 28 . . . g.156790
GGGCAGTGTGGACTTCTGGGGTATTCTGGCTG | GTGCCATTACTGCAAGTCATCCTGCCAC c.3300
G Q C G L L G Y S G W | C H Y C K S S C H p.1100
. . . . . . g.156850
GTGTCTTCCCTCCGTATTCCGTATGCCTGCAAGCTGCTCTTCCAGGAACTACAGTCTATG c.3360
V S S L R I P Y A C K L L F Q E L Q S M p.1120
. . . . g.156892
AACATCATCCCCAGGTTAAAACTGTCCAAGTACAATGAATGA c.3402
N I I P R L K L S K Y N E X p.1133
. . . . . . g.156952
ggatggaaaaaatgattattaaagagaacaagtgatacatccaatgcaacggaaagcaga c.*60
. . . . . . g.157012
agggatttaggactacgtctcctcctgtgaagaattcccttgcgtattctctctctaaaa c.*120
. . . . . . g.157072
caaccaaaaaaaaatggagaggctttttatatactctaagactggctaaacaaccttgat c.*180
. . . . . . g.157132
cattgagcctcgagccatgggagagatgctgaccatgtggactgcaaggctgcttgattc c.*240
. . . . . . g.157192
acagatggatgtgacctaaaggataaataagctattacttatgtgctgatctcttgacat c.*300
. . . . . . g.157252
tcactcattagaagaccttactccttcaagcaaatgtttggggtcaaatttaccatatct c.*360
. . . . . . g.157312
tctggctaaccatattcaagattcttctgaaacttggaggatgtaaagaatccatttgat c.*420
. . . . . . g.157372
ttggtcagcctggcttttgtcgtggtggctggctcggataaattttcccaacaattaaat c.*480
. . . . . . g.157432
cttgcctttacacacccaaactttgtaattttagtcttggtgaaatataatgaatttgtt c.*540
. . . . . . g.157492
cctaccttgtcaagcaagaatgtcgtcttctcctatggactcaattgctattattttaaa c.*600
. . . . g.157541
cctgcatgattgtaccatgcaatactattcgttaaatatctgaatctaa c.*649
(downstream sequence)
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