(used for variant description)
(last modified September 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_015425.3 in the POLR1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering POLR1A transcript NM_015425.3.
(upstream sequence)
. g.5019
attggctgaagcggaagaa c.-361
. . . . . . g.5079
gacgaaagcaatcataaaatgggaggttgcaagctcatggtttgaaagacttcgtcacgg c.-301
. . . . . . g.5139
aagctaaaagctctatacacccgatttgcctcggaggaattttcctaaatgattattttg c.-241
. . . . . . g.5199
atgtcttatatatctttgattgttttcaaaacaaaagagcgagcagagagtcgtacaact c.-181
. . . . . . g.5259
atttgttccccccccatgtagaagtgatctcatccacgtaaatgtcgttcctgcgaccgc c.-121
. . . . . . g.5319
ttccgcgcgcaagcgcacgttgaatcgcgtggtgactccgggcttgaggttgaattaaga c.-61
. . . . . . g.5379
atagtcaggtggtgagtggaacgtctcttggggtgtcggaattcaaaacggacctggagg c.-1
. . . . . . g.5439
ATGTTGATCTCCAAGAACATGCCCTGGCGGCGGCTGCAGGGCATTTCCTTCGGGATGTAT c.60
M L I S K N M P W R R L Q G I S F G M Y p.20
. | 02. . . . . g.11026
TCGGCTGAAGAGCTCAA | GAAATTAAGTGTTAAATCCATTACGAACCCTCGATACCTGGAC c.120
S A E E L K | K L S V K S I T N P R Y L D p.40
. . . . . . g.11086
AGCCTGGGGAACCCATCGGCAAACGGCCTGTACGATTTAGCTTTGGGCCCTGCAGATTCC c.180
S L G N P S A N G L Y D L A L G P A D S p.60
. . . . . . g.11146
AAAGAGGTGTGCTCCACCTGCGTGCAGGACTTCAGCAACTGTTCTGGGCACCTGGGCCAC c.240
K E V C S T C V Q D F S N C S G H L G H p.80
. . . . | 03 . . g.12413
ATTGAGCTCCCACTCACAGTGTATAACCCTCTCCTCTTCGAT | AAGCTGTACCTGCTGCTT c.300
I E L P L T V Y N P L L F D | K L Y L L L p.100
. . . . . . g.12473
CGGGGCTCTTGTTTAAACTGCCACATGCTGACTTGTCCCCGGGCCGTGATTCACCTCTTA c.360
R G S C L N C H M L T C P R A V I H L L p.120
. . . . . . g.12533
CTCTGCCAGCTGAGGGTTCTGGAAGTCGGGGCCCTACAAGCAGTCTACGAGCTTGAGAGA c.420
L C Q L R V L E V G A L Q A V Y E L E R p.140
. | 04 . . . . . g.21274
ATTCTGAACAGG | TTTCTGGAAGAAAATCCCGATCCCTCTGCCTCTGAAATTCGGGAGGAA c.480
I L N R | F L E E N P D P S A S E I R E E p.160
. . . . . . g.21334
TTAGAACAATACACAACTGAAATTGTGCAGAACAACCTCCTGGGGTCCCAGGGCGCACAT c.540
L E Q Y T T E I V Q N N L L G S Q G A H p.180
| 05 . . . . . . g.22345
| GTAAAGAACGTGTGTGAGAGCAAGAGCAAGCTCATTGCTCTCTTCTGGAAGGCACATATG c.600
| V K N V C E S K S K L I A L F W K A H M p.200
. . | 06 . . . . g.22520
AATGCTAAGCGCTGTCCCCACTGCAA | GACCGGGCGATCCGTTGTCCGAAAGGAACACAAC c.660
N A K R C P H C K | T G R S V V R K E H N p.220
. . . . . . g.22580
AGCAAGTTGACTATCACGTTTCCAGCCATGGTGCACAGGACAGCTGGCCAGAAGGACTCT c.720
S K L T I T F P A M V H R T A G Q K D S p.240
. | 07 . . . . . g.28037
GAGCCCCTGG | GAATTGAGGAAGCTCAGATAGGAAAACGAGGATACTTAACACCCACCAGT c.780
E P L G | I E E A Q I G K R G Y L T P T S p.260
. . . | 08. . . g.29472
GCCCGCGAACACCTTTCTGCCCTGTGGAAGAATGAAG | GATTCTTTCTGAACTACCTTTTT c.840
A R E H L S A L W K N E G | F F L N Y L F p.280
. . . . . . g.29532
TCGGGAATGGATGATGATGGTATGGAATCCAGATTCAATCCCAGTGTGTTCTTTCTAGAT c.900
S G M D D D G M E S R F N P S V F F L D p.300
. . | 09 . . . . g.30214
TTCTTGGTGGTGCCGCCCTCAAG | GTATCGCCCAGTCAGTCGCCTAGGAGACCAGATGTTT c.960
F L V V P P S R | Y R P V S R L G D Q M F p.320
. . . . . . g.30274
ACTAATGGCCAGACGGTGAACTTGCAGGCTGTCATGAAGGATGTAGTTCTGATTCGAAAA c.1020
T N G Q T V N L Q A V M K D V V L I R K p.340
. . . . . . g.30334
CTTCTGGCATTGATGGCCCAAGAACAGAAGTTGCCAGAGGAAGTGGCCACACCCACTACA c.1080
L L A L M A Q E Q K L P E E V A T P T T p.360
| 10 . . . . . . g.32925
GATGAG | GAAAAAGACTCTTTGATTGCTATTGACCGATCCTTTTTGAGTACACTTCCAGGC c.1140
D E | E K D S L I A I D R S F L S T L P G p.380
. . . . . . g.32985
CAGTCCCTCATAGACAAACTTTACAACATTTGGATTCGCCTTCAGAGCCACGTCAATATT c.1200
Q S L I D K L Y N I W I R L Q S H V N I p.400
. . . . . | 11. g.33177
GTGTTTGATAGCGAGATGGACAAACTAATGATGGACAAGTACCCAGGCATTAGGCAG | ATC c.1260
V F D S E M D K L M M D K Y P G I R Q | I p.420
. . . . . . g.33237
CTGGAGAAGAAAGAAGGCCTGTTCCGAAAACACATGATGGGAAAGCGAGTGGACTACGCT c.1320
L E K K E G L F R K H M M G K R V D Y A p.440
. . . . . . g.33297
GCGCGCTCAGTCATCTGCCCAGACATGTACATCAACACCAACGAAATTGGAATTCCCATG c.1380
A R S V I C P D M Y I N T N E I G I P M p.460
| 12 . . . . . . g.35955
| GTGTTTGCCACAAAACTGACCTACCCACAGCCAGTTACCCCATGGAATGTTCAGGAACTT c.1440
| V F A T K L T Y P Q P V T P W N V Q E L p.480
. . . . . . g.36015
AGGCAAGCGGTCATCAACGGCCCTAATGTGCACCCAGGAGCCTCCATGGTCATCAATGAG c.1500
R Q A V I N G P N V H P G A S M V I N E p.500
. . . . . . g.36075
GACGGCAGCCGCACAGCCCTGAGCGCTGTGGACATGACCCAGCGAGAGGCCGTGGCCAAG c.1560
D G S R T A L S A V D M T Q R E A V A K p.520
. . . . . | 13 . g.40892
CAGCTTCTGACCCCAGCCACGGGGGCACCTAAGCCCCAGGGGACAAAAATT | GTGTGCCGG c.1620
Q L L T P A T G A P K P Q G T K I | V C R p.540
. . . . . . g.40952
CATGTGAAGAATGGGGACATTCTGCTACTGAACCGACAGCCCACACTGCACAGACCCTCC c.1680
H V K N G D I L L L N R Q P T L H R P S p.560
. . . . . . g.41012
ATCCAGGCCCACCGTGCCCGCATCCTGCCTGAAGAGAAAGTGCTGCGGCTCCACTATGCC c.1740
I Q A H R A R I L P E E K V L R L H Y A p.580
. . . . . . g.41072
AACTGCAAGGCCTATAATGCCGACTTTGATGGAGACGAGATGAATGCCCATTTCCCCCAG c.1800
N C K A Y N A D F D G D E M N A H F P Q p.600
. . . . . . g.41132
AGTGAGCTGGGCCGGGCCGAGGCCTACGTCCTGGCCTGCACTGATCAGCAGTACCTTGTT c.1860
S E L G R A E A Y V L A C T D Q Q Y L V p.620
| 14 . . . . . . g.45744
CCCAAG | GATGGCCAACCATTGGCGGGACTGATCCAGGATCACATGGTTTCAGGGGCAAGC c.1920
P K | D G Q P L A G L I Q D H M V S G A S p.640
. . . . . . g.45804
ATGACTACTCGGGGTTGCTTTTTCACCCGGGAGCACTATATGGAGCTGGTGTACCGAGGA c.1980
M T T R G C F F T R E H Y M E L V Y R G p.660
. . . . . . g.45864
CTCACGGACAAAGTGGGGCGCGTGAAGCTCCTTTCTCCTTCCATCCTGAAGCCCTTTCCG c.2040
L T D K V G R V K L L S P S I L K P F P p.680
. | 15 . . . . g.56908
CTGTGGACAGGAAAACAG | GTTGTGTCAACGCTGCTCATAAATATAATCCCAGAGGACCAC c.2100
L W T G K Q | V V S T L L I N I I P E D H p.700
. . . . . . g.56968
ATCCCACTGAACTTATCTGGAAAGGCGAAAATCACTGGGAAAGCCTGGGTGAAGGAAACT c.2160
I P L N L S G K A K I T G K A W V K E T p.720
. . . . | 16 . g.58167
CCTCGATCCGTTCCTGGCTTTAACCCTGACTCGATGTGCGAGTCCCAG | GTGATCATCAGG c.2220
P R S V P G F N P D S M C E S Q | V I I R p.740
. . . . . . g.58227
GAAGGGGAGCTGCTCTGCGGAGTGCTGGACAAGGCGCACTATGGGAGCTCCGCCTACGGC c.2280
E G E L L C G V L D K A H Y G S S A Y G p.760
. . . . . . g.58287
CTGGTCCACTGCTGCTATGAGATCTATGGAGGCGAGACCAGCGGCAAGGTTCTAACCTGC c.2340
L V H C C Y E I Y G G E T S G K V L T C p.780
. . . . . | 17 . g.61921
CTGGCCCGCCTCTTCACCGCCTACCTGCAGCTCTACAGAGGCTTCACCTTGG | GCGTGGAA c.2400
L A R L F T A Y L Q L Y R G F T L G | V E p.800
. . . . . . g.61981
GACATTTTGGTGAAGCCAAAGGCAGATGTCAAGAGGCAACGTATCATTGAAGAATCCACC c.2460
D I L V K P K A D V K R Q R I I E E S T p.820
. | 18 . . . . . g.62158
CACTGCGGGCCCCAG | GCTGTCAGGGCTGCATTAAACCTGCCAGAAGCCGCATCATATGAT c.2520
H C G P Q | A V R A A L N L P E A A S Y D p.840
. . . . . . g.62218
GAGGTCCGAGGAAAATGGCAGGATGCCCATCTGGGCAAGGACCAGAGGGATTTTAACATG c.2580
E V R G K W Q D A H L G K D Q R D F N M p.860
. . . . . | 19 . g.63898
ATTGATCTGAAGTTCAAGGAGGAAGTGAACCATTACAGCAATGAGATTAACAAG | GCATGC c.2640
I D L K F K E E V N H Y S N E I N K | A C p.880
. . . . . . g.63958
ATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCG c.2700
M P F G L H R Q F P E N S L Q M M V Q S p.900
. . . | 20 . . . g.65413
GGAGCCAAAGGTTCAACTGTGAACACGATGCAG | ATCTCGTGCCTGCTGGGCCAGATTGAA c.2760
G A K G S T V N T M Q | I S C L L G Q I E p.920
. . . . . . g.65473
CTGGAAGGTCGGAGACCCCCGCTGATGGCGTCTGGCAAGTCACTGCCCTGCTTTGAGCCT c.2820
L E G R R P P L M A S G K S L P C F E P p.940
. . . . . . g.65533
TATGAGTTCACCCCCAGGGCTGGTGGCTTTGTCACTGGCAGGTTCCTCACCGGCATCAAA c.2880
Y E F T P R A G G F V T G R F L T G I K p.960
| 21 . . . . . . g.65849
CCTCCT | GAGTTCTTCTTCCACTGCATGGCAGGACGAGAGGGCCTGGTGGACACTGCTGTG c.2940
P P | E F F F H C M A G R E G L V D T A V p.980
. . | 22 . . . g.66882
AAAACCAGCCGCTCAGGCTATCTCCAAAG | GTGCATCATCAAGCACCTAGAGGGGCTGGTC c.3000
K T S R S G Y L Q R | C I I K H L E G L V p.1000
. . . . . . g.66942
GTGCAGTATGATCTCACGGTCCGTGACAGTGACGGCAGTGTGGTGCAGTTCCTGTATGGG c.3060
V Q Y D L T V R D S D G S V V Q F L Y G p.1020
. . . . . . g.67002
GAGGATGGCCTGGACATCCCCAAGACACAGTTCCTGCAGCCCAAGCAGTTCCCCTTCCTG c.3120
E D G L D I P K T Q F L Q P K Q F P F L p.1040
. | 23 . . . . . g.68005
GCCAGCAACTACGAG | GTGATAATGAAATCACAGCATCTCCATGAAGTTTTATCCAGAGCA c.3180
A S N Y E | V I M K S Q H L H E V L S R A p.1060
. . . . . . g.68065
GATCCCAAAAAAGCTCTCCACCACTTCAGAGCTATCAAAAAATGGCAAAGCAAGCACCCC c.3240
D P K K A L H H F R A I K K W Q S K H P p.1080
. . . . . . g.68125
AACACCCTGCTGAGAAGAGGCGCCTTCTTGAGTTATTCCCAGAAAATTCAGGAAGCTGTG c.3300
N T L L R R G A F L S Y S Q K I Q E A V p.1100
. . . . . | 24. g.69055
AAAGCCCTGAAACTTGAGAGTGAAAACCGCAATGGCCGCAGCCCTGGGACTCAGGAG | ATG c.3360
K A L K L E S E N R N G R S P G T Q E | M p.1120
. . . . . . g.69115
CTGAGGATGTGGTATGAGTTGGATGAGGAAAGCCGAAGGAAATACCAGAAGAAGGCGGCC c.3420
L R M W Y E L D E E S R R K Y Q K K A A p.1140
. . . . . . g.69175
GCTTGTCCTGACCCCAGTCTGTCTGTCTGGCGTCCTGACATCTACTTTGCATCAGTGTCA c.3480
A C P D P S L S V W R P D I Y F A S V S p.1160
. . . . . . g.69235
GAAACATTTGAAACAAAGGTTGATGACTACAGTCAAGAGTGGGCAGCTCAAACAGAGAAG c.3540
E T F E T K V D D Y S Q E W A A Q T E K p.1180
. . . | 25 . . . g.70624
AGTTATGAGAAATCAGAGCTTTCTCTCGACAG | GTTGAGGACCTTGCTGCAGCTGAAGTGG c.3600
S Y E K S E L S L D R | L R T L L Q L K W p.1200
. . . . . . g.70684
CAGCGCTCACTGTGTGAGCCGGGCGAGGCTGTGGGCCTGCTGGCTGCCCAGAGCATCGGA c.3660
Q R S L C E P G E A V G L L A A Q S I G p.1220
. . . . . . g.70744
GAGCCCTCCACCCAGATGACCCTCAACACCTTCCACTTTGCAGGCAGAGGCGAGATGAAC c.3720
E P S T Q M T L N T F H F A G R G E M N p.1240
. . | 26 . . . . g.71733
GTCACCCTGGGCATTCCAAG | GTTGCGGGAGATTCTCATGGTGGCCAGCGCCAACATCAAG c.3780
V T L G I P R | L R E I L M V A S A N I K p.1260
. . . . . . g.71793
ACACCCATGATGAGCGTGCCCGTGCTCAACACCAAGAAAGCCCTGAAGAGAGTGAAAAGC c.3840
T P M M S V P V L N T K K A L K R V K S p.1280
. . . | 27 . . . g.72322
CTGAAGAAGCAACTCACCAGGGTGTGCTTGGGGGAG | GTGTTGCAGAAAATTGACGTCCAG c.3900
L K K Q L T R V C L G E | V L Q K I D V Q p.1300
. . . . . . g.72382
GAGTCCTTCTGTATGGAAGAAAAACAGAACAAATTCCAGGTGTACCAGCTGCGGTTTCAG c.3960
E S F C M E E K Q N K F Q V Y Q L R F Q p.1320
. . . . . . g.72442
TTCCTGCCACATGCATATTACCAGCAGGAGAAGTGCCTGAGACCCGAGGACATCCTGCGC c.4020
F L P H A Y Y Q Q E K C L R P E D I L R p.1340
. | 28 . . . . . g.77414
TTCATGGAAACAAG | ATTCTTTAAACTTCTGATGGAATCCATCAAAAAGAAGAATAATAAA c.4080
F M E T R | F F K L L M E S I K K K N N K p.1360
. . . . . . g.77474
GCATCAGCTTTCAGGAACGTAAACACTCGAAGAGCTACACAGCGGGATCTGGACAACGCT c.4140
A S A F R N V N T R R A T Q R D L D N A p.1380
. . | 29 . . . . g.78812
GGGGAGTTGGGGAGGAGTCGG | GGAGAGCAGGAGGGTGATGAGGAAGAGGAGGGGCACATT c.4200
G E L G R S R | G E Q E G D E E E E G H I p.1400
. . . . . . g.78872
GTGGATGCTGAAGCTGAGGAGGGGGACGCCGATGCCTCTGATGCCAAACGCAAGGAGAAG c.4260
V D A E A E E G D A D A S D A K R K E K p.1420
. | 30 . . . . . g.79568
CAGGAGGAGGAG | GTTGATTATGAGAGTGAGGAAGAGGAGGAGAGGGAGGGCGAGGAGAAC c.4320
Q E E E | V D Y E S E E E E E R E G E E N p.1440
. . . . . . g.79628
GACGATGAAGACATGCAGGAGGAACGAAATCCCCACAGGGAAGGTGCTCGAAAGACCCAA c.4380
D D E D M Q E E R N P H R E G A R K T Q p.1460
. . . . . . g.79688
GAGCAAGATGAAGAGGTGGGCTTAGGCACTGAGGAGGACCCGTCCCTTCCCGCCCTCCTG c.4440
E Q D E E V G L G T E E D P S L P A L L p.1480
. . . . . . g.79748
ACGCAGCCCCGGAAACCCACCCACAGCCAGGAGCCCCAGGGGCCCGAGGCCATGGAGCGC c.4500
T Q P R K P T H S Q E P Q G P E A M E R p.1500
. . . . . . g.79808
CGGGTCCAGGCTGTGCGTGAGATCCACCCGTTCATAGATGACTACCAGTACGACACCGAG c.4560
R V Q A V R E I H P F I D D Y Q Y D T E p.1520
. | 31 . . . . g.80801
GAGAGCCTGTGGTGCCAG | GTGACAGTGAAGCTCCCTCTGATGAAGATCAACTTTGACATG c.4620
E S L W C Q | V T V K L P L M K I N F D M p.1540
. . . . . . g.80861
AGCTCCCTGGTAGTATCTTTGGCCCATGGTGCCGTCATCTATGCGACCAAGGGCATCACT c.4680
S S L V V S L A H G A V I Y A T K G I T p.1560
. . . . . . g.80921
CGGTGCCTCCTGAATGAAACAACCAACAATAAGAACGAGAAGGAGCTTGTGCTAAACACA c.4740
R C L L N E T T N N K N E K E L V L N T p.1580
. . . | 32 . . g.82465
GAAGGAATCAACCTCCCAGAGCTATTCAAGTATGCAGAG | GTCCTGGATCTGCGCCGCCTC c.4800
E G I N L P E L F K Y A E | V L D L R R L p.1600
. . . . . . g.82525
TACTCCAACGACATCCACGCCATAGCCAACACGTATGGCATTGAGGCCGCGCTGCGGGTG c.4860
Y S N D I H A I A N T Y G I E A A L R V p.1620
. . . | 33. . . g.83129
ATCGAGAAGGAGATCAAGGATGTGTTTGCCGTGTATG | GCATCGCGGTCGACCCTCGCCAT c.4920
I E K E I K D V F A V Y G | I A V D P R H p.1640
. . . . . . g.83189
CTCTCCCTGGTTGCTGATTATATGTGCTTCGAGGGTGTTTACAAGCCACTGAATCGCTTT c.4980
L S L V A D Y M C F E G V Y K P L N R F p.1660
. . . . . . g.83249
GGGATCCGGTCAAACTCTTCCCCGCTACAGCAGATGACATTTGAAACCAGCTTCCAGTTT c.5040
G I R S N S S P L Q Q M T F E T S F Q F p.1680
. . | 34 . . . . g.83670
CTGAAGCAAGCCACCATGCTGG | GATCCCACGATGAGCTGAGGTCTCCTTCTGCCTGCCTT c.5100
L K Q A T M L G | S H D E L R S P S A C L p.1700
. . . . . . g.83730
GTGGTCGGGAAGGTCGTCAGGGGCGGGACAGGCCTGTTCGAGCTCAAGCAGCCTCTGAGA c.5160
V V G K V V R G G T G L F E L K Q P L R p.1720
g.83733
TAG c.5163
X p.1720
. . . . . . g.83793
cagctaccccggcaccatctgcccagctccaaggacccttggtgagggcgtggcccagcc c.*60
. . . . . . g.83853
tgccttctgcatgagaggaccaggagactggaatccagggcagttccaagtgacagtaca c.*120
. . . . . . g.83913
gagcacagcagcgaccttgggcctgaaagcagtgggcctctgagctgggccagcttcacc c.*180
. . . . . . g.83973
tggaaagtgacagagttgctcatccttgcccctccctgtctctggatttttatcaaggtt c.*240
. . . . . . g.84033
taccaagtcttctgagtccccctgagatggctggggcctcacctgtgctgcaggaggcct c.*300
. . . . . . g.84093
ctgtggcataacccctaaggagaagtcctgattcacgattcactgagaagaccaagggga c.*360
. . . . . . g.84153
agccatgctttgctgctggggaccccaggcacctccagagtagggaagcggggttctttt c.*420
. . . . . . g.84213
gctgtgagtggccagggacaacagacaagattcctgggggctcccgatgagcaggaacgt c.*480
. . . . . . g.84273
ggagcctgctgcccaaggcctgctccttccggctgctccagcccctgggggcagagtcca c.*540
. . . . . . g.84333
caaagagtccccatcaagacttcttccctgagtcaagtacagcgtagcatagtcctccac c.*600
. . . . . . g.84393
ccacccaacctctctgcctggccagggtcctggccctgccactgtgtggcgaggtgtcct c.*660
. . . . . . g.84453
tctagaccacatcagccccaaggctgggagcagtcgctccagggccgcagcagttcactc c.*720
. . . . . . g.84513
ccacacatagaacccaggtcactgctggggcgattgaacaggttgcctggcttttctctg c.*780
. . . . . . g.84573
ctgtcagtttggtgtggaggcctatgttctgccccatacaccccacaggccctgcttatg c.*840
. . . . . . g.84633
ggaaggaacacaggcctccagcccagaggactgtgccgccctgttcttggccgtccacgt c.*900
. . . . . . g.84693
ttcctctccctctagcaccagcaatacatttccctggcatggacagaaaagacagagagg c.*960
. . . . . . g.84753
acttatacaaaggctttgtaaaaccagaggctagcttctatctttgtctactgttatttc c.*1020
. . . . . . g.84813
agctcagggcgggtaattaacatcattggaactagctattaggaaagaaaaaaaacttgg c.*1080
. g.84828
ttttttttacaacaa c.*1095
(downstream sequence)
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