(used for variant description)
(last modified December 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016937.3 in the POLA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016798.1, covering POLA1 transcript NM_016937.3.
(upstream sequence)
. g.5015
gggagattcgggacc c.-1
. . | 02 . . . . g.10513
ATGGCACCTGTGCACGGCGACGACT | CTCTGTCAGATTCAGGGAGTTTTGTATCTTCTCGA c.60
M A P V H G D D S | L S D S G S F V S S R p.20
. . . . . . g.10573
GCCCGGCGAGAAAAAAAATCAAAGAAGGGGCGCCAAGAAGCCCTAGAAAGACTGAAAAAG c.120
A R R E K K S K K G R Q E A L E R L K K p.40
. . . | 03 . . . g.14334
GCTAAAGCTGGTGAGAAGTATAAATATGAA | GTCGAGGACTTCACAGGTGTTTATGAAGAA c.180
A K A G E K Y K Y E | V E D F T G V Y E E p.60
. . . . . . g.14394
GTTGATGAAGAACAGTATTCGAAGCTGGTTCAGGCACGCCAGGATGATGACTGGATTGTG c.240
V D E E Q Y S K L V Q A R Q D D D W I V p.80
| 04. . . . . . g.15495
GATGATG | ATGGTATTGGCTATGTGGAAGATGGCCGAGAGATTTTTGATGATGACCTTGAA c.300
D D D | G I G Y V E D G R E I F D D D L E p.100
. . | 05 . . . g.25639
GATGATGCCCTTGATGCTGATGAGAAAG | GAAAAGATGGTAAAGCACGCAATAAAGACAAG c.360
D D A L D A D E K G | K D G K A R N K D K p.120
. . . . . . g.25699
AGGAATGTAAAGAAGCTCGCAGTGACAAAACCGAACAACATTAAGTCAATGTTCATTGCT c.420
R N V K K L A V T K P N N I K S M F I A p.140
. . | 06 . . . . g.26230
TGTGCTGGAAAGAAAACTGCAGAT | AAAGCTGTAGACTTGTCCAAGGATGGTCTGCTAGGT c.480
C A G K K T A D | K A V D L S K D G L L G p.160
. . | 07. . . . g.27448
GACATTCTACAGGATCTTAACACTGAG | ACACCTCAAATAACTCCACCACCTGTAATGATA c.540
D I L Q D L N T E | T P Q I T P P P V M I p.180
. . . . . . g.27508
CTGAAGAAGAAAAGATCCATTGGAGCTTCACCGAATCCTTTCTCTGTGCACACCGCCACG c.600
L K K K R S I G A S P N P F S V H T A T p.200
| 08 . . . . . . g.27997
| GCAGTTCCTTCAGGAAAAATTGCTTCCCCTGTCTCCAGAAAGGAGCCTCCATTAACTCCT c.660
| A V P S G K I A S P V S R K E P P L T P p.220
. . | 09 . . . g.28375
GTTCCTCTTAAACGTGCTGAATTTGCTG | GCGATGATGTACAGGTCGAGAGTACAGAAGAA c.720
V P L K R A E F A G | D D V Q V E S T E E p.240
. . . . . . g.28435
GAGCAGGAGTCAGGGGCAATGGAGTTTGAAGATGGTGACTTTGATGAGCCCATGGAAGTT c.780
E Q E S G A M E F E D G D F D E P M E V p.260
. . . . . . g.28495
GAAGAGGTGGACCTGGAGCCTATGGCTGCCAAGGCTTGGGACAAAGAGAGTGAGCCAGCA c.840
E E V D L E P M A A K A W D K E S E P A p.280
. . . . . | 10 . g.28643
GAGGAAGTGAAACAAGAGGCGGATTCTGGGAAAGGGACCGTGTCCTACTT | AGGAAGTTTT c.900
E E V K Q E A D S G K G T V S Y L | G S F p.300
. . . . . . g.28703
CTCCCGGATGTCTCTTGTTGGGACATTGATCAAGAAGGTGATAGCAGTTTCTCAGTGCAA c.960
L P D V S C W D I D Q E G D S S F S V Q p.320
. . . . . . g.28763
GAAGTTCAAGTGGATTCCAGTCACCTCCCATTGGTAAAAGGGGCAGATGAGGAACAAGTA c.1020
E V Q V D S S H L P L V K G A D E E Q V p.340
. . . . | 11 . g.34219
TTCCACTTTTATTGGTTGGATGCTTATGAGGATCAGTACAACCAACCAG | GTGTGGTATTT c.1080
F H F Y W L D A Y E D Q Y N Q P G | V V F p.360
. . . . . . g.34279
CTGTTTGGGAAAGTTTGGATTGAATCAGCCGAGACCCATGTGAGCTGTTGTGTCATGGTG c.1140
L F G K V W I E S A E T H V S C C V M V p.380
. . . . | 12 . . g.35406
AAAAATATCGAGCGAACGCTTTACTTCCTTCCCCGTGAAATG | AAAATTGATCTAAATACG c.1200
K N I E R T L Y F L P R E M | K I D L N T p.400
. . . . . . g.35466
GGGAAAGAAACAGGAACTCCAATTTCAATGAAGGATGTTTATGAGGAATTTGATGAGAAA c.1260
G K E T G T P I S M K D V Y E E F D E K p.420
. . . | 13 . . g.37055
ATAGCAACAAAATATAAAATTATGAAGTTCAAGTCTAAG | CCAGTGGAAAAGAACTATGCT c.1320
I A T K Y K I M K F K S K | P V E K N Y A p.440
. . . . . | 14 . g.37992
TTTGAGATACCTGATGTTCCAGAAAAATCTGAGTACTTGGAAGTTAAATACTCG | GCTGAA c.1380
F E I P D V P E K S E Y L E V K Y S | A E p.460
. . . . . . g.38052
ATGCCACAGCTTCCTCAAGATTTGAAAGGAGAAACTTTTTCTCATGTATTTGGGACCAAC c.1440
M P Q L P Q D L K G E T F S H V F G T N p.480
. . . . . . g.38112
ACATCTAGCCTGGAACTGTTCTTGATGAACAGAAAGATCAAAGGACCTTGTTGGCTTGAA c.1500
T S S L E L F L M N R K I K G P C W L E p.500
. | 15 . . . . . g.38882
GTAAAAAGTCCAC | AGCTCTTGAATCAGCCAGTCAGTTGGTGTAAAGTTGAGGCAATGGCT c.1560
V K S P Q | L L N Q P V S W C K V E A M A p.520
. . . . . . g.38942
TTGAAACCAGACCTGGTGAATGTAATTAAGGATGTCAGTCCACCACCGCTTGTCGTGATG c.1620
L K P D L V N V I K D V S P P P L V V M p.540
. . . . | 16 . g.43435
GCTTTCAGCATGAAGACAATGCAGAATGCAAAGAACCATCAAAATGAG | ATTATTGCTATG c.1680
A F S M K T M Q N A K N H Q N E | I I A M p.560
. . . . . . g.43495
GCAGCTTTGGTCCATCACAGTTTTGCATTGGATAAAGCAGCCCCAAAGCCTCCCTTTCAG c.1740
A A L V H H S F A L D K A A P K P P F Q p.580
. | 17 . . . . . g.44855
TCACACTTCTGTG | TTGTGTCTAAACCAAAGGACTGTATTTTTCCATATGCTTTCAAAGAA c.1800
S H F C V | V S K P K D C I F P Y A F K E p.600
. | 18 . . . . . g.46497
GTCATTGAGAAAAAG | AATGTGAAGGTTGAGGTTGCTGCAACAGAAAGAACACTGCTAGGT c.1860
V I E K K | N V K V E V A A T E R T L L G p.620
. . . . | 19 . . g.48693
TTTTTCCTTGCAAAAGTTCACAAAATTGATCCTGATATCATTGTG | GGTCATAATATTTAT c.1920
F F L A K V H K I D P D I I V | G H N I Y p.640
. . . . . . g.48753
GGGTTTGAACTGGAAGTACTACTGCAGAGAATTAATGTGTGCAAAGCTCCTCACTGGTCC c.1980
G F E L E V L L Q R I N V C K A P H W S p.660
. . . . | 20 . . g.50446
AAGATAGGTCGACTGAAGCGATCCAACATGCCAAAGCTTGGG | GGCCGGAGTGGATTTGGT c.2040
K I G R L K R S N M P K L G | G R S G F G p.680
. . . . . . g.50506
GAAAGAAATGCTACCTGTGGTCGAATGATCTGTGATGTGGAAATTTCAGCAAAGGAATTG c.2100
E R N A T C G R M I C D V E I S A K E L p.700
. . . . . . g.50566
ATTCGTTGTAAAAGCTACCATCTGTCTGAACTTGTTCAGCAGATTCTAAAAACTGAAAGG c.2160
I R C K S Y H L S E L V Q Q I L K T E R p.720
. . . | 21 . . g.52450
GTTGTAATCCCAATGGAAAATATACAAAATATGTACAG | TGAATCTTCTCAACTGTTATAC c.2220
V V I P M E N I Q N M Y S | E S S Q L L Y p.740
. . . . . . g.52510
CTGTTGGAACACACCTGGAAAGATGCCAAGTTCATTTTGCAGATCATGTGTGAGCTAAAT c.2280
L L E H T W K D A K F I L Q I M C E L N p.760
. . . . | 22 . g.53067
GTTCTTCCATTAGCATTGCAGATCACTAACATCGCTGGGAACATTATG | TCCAGGACGCTG c.2340
V L P L A L Q I T N I A G N I M | S R T L p.780
. . . . . . g.53127
ATGGGTGGACGATCCGAGCGTAACGAGTTCTTGTTGCTTCATGCATTTTACGAAAACAAC c.2400
M G G R S E R N E F L L L H A F Y E N N p.800
. . . . | 23 . g.54295
TATATTGTGCCTGACAAGCAGATTTTCAGAAAGCCTCAGCAAAAACTG | GGAGATGAAGAT c.2460
Y I V P D K Q I F R K P Q Q K L | G D E D p.820
. . . . . . g.54355
GAAGAAATTGATGGAGATACCAATAAATACAAGAAAGGACGTAAGAAAGCAGCTTATGCT c.2520
E E I D G D T N K Y K K G R K K A A Y A p.840
. . | 24 . . . g.56503
GGAGGCTTGGTTTTGGACCCCAAAGTTG | GTTTTTATGATAAGTTCATTTTGCTTCTGGAC c.2580
G G L V L D P K V G | F Y D K F I L L L D p.860
. . . . . . g.56563
TTCAACAGTCTATATCCTTCCATCATTCAGGAATTTAACATTTGTTTTACAACAGTACAA c.2640
F N S L Y P S I I Q E F N I C F T T V Q p.880
. . . | 25 . . . g.59391
AGAGTTGCTTCAGAGGCACAGAAAGTTACAGAG | GATGGAGAACAAGAACAGATCCCTGAG c.2700
R V A S E A Q K V T E | D G E Q E Q I P E p.900
. . . . . . g.59451
TTGCCAGATCCAAGCTTAGAAATGGGCATTTTGCCCAGAGAGATCCGGAAACTGGTAGAA c.2760
L P D P S L E M G I L P R E I R K L V E p.920
. . . . . . g.59511
CGGAGAAAACAAGTCAAACAGCTAATGAAACAGCAAGACTTAAATCCAGACCTTATTCTT c.2820
R R K Q V K Q L M K Q Q D L N P D L I L p.940
| 26 . . . . . . g.59980
CAG | TATGACATTCGACAGAAGGCTTTGAAGCTCACAGCGAACAGTATGTATGGTTGCCTG c.2880
Q | Y D I R Q K A L K L T A N S M Y G C L p.960
. . . . . . g.60040
GGATTTTCCTATAGCAGATTTTACGCCAAACCACTGGCTGCCTTGGTGACATACAAAGGA c.2940
G F S Y S R F Y A K P L A A L V T Y K G p.980
| 27 . . . | 28 . . g.121782
AGGGAG | ATTTTGATGCATACGAAAGAGATGGTACAAAAG | ATGAATCTTGAAGTTATTTAT c.3000
R E | I L M H T K E M V Q K | M N L E V I Y p.1000
. . . . . . g.121842
GGAGATACAGATTCAATTATGATAAACACCAATAGCACCAATCTGGAAGAAGTATTTAAG c.3060
G D T D S I M I N T N S T N L E E V F K p.1020
. | 29 . . . . . g.123759
TTGGGAAACAAG | GTAAAAAGTGAAGTGAATAAGTTGTACAAACTGCTTGAAATAGACATT c.3120
L G N K | V K S E V N K L Y K L L E I D I p.1040
. . . . . . g.123819
GATGGGGTTTTCAAGTCTCTGCTACTGCTGAAAAAAAAGAAGTACGCTGCTCTGGTTGTT c.3180
D G V F K S L L L L K K K K Y A A L V V p.1060
. . . . . . g.123879
GAGCCAACGTCGGATGGGAATTATGTCACCAAACAGGAGCTCAAAGGATTAGATATAGTT c.3240
E P T S D G N Y V T K Q E L K G L D I V p.1080
. . . | 30 . . g.126054
AGAAGAGATTGGTGTGATCTTGCTAAAGACACTGGAAA | CTTTGTGATTGGCCAGATTCTT c.3300
R R D W C D L A K D T G N | F V I G Q I L p.1100
. . . . . . g.126114
TCTGATCAAAGCCGGGACACTATAGTGGAAAACATTCAGAAGAGGCTGATAGAAATTGGA c.3360
S D Q S R D T I V E N I Q K R L I E I G p.1120
. . . . . | 31 . g.132514
GAAAATGTGCTAAATGGCAGTGTCCCAGTGAGCCAGTTTGAAATTAACAAG | GCATTGACA c.3420
E N V L N G S V P V S Q F E I N K | A L T p.1140
. . . . . . g.132574
AAGGATCCCCAGGATTACCCTGATAAAAAAAGCCTACCTCATGTACATGTTGCCCTCTGG c.3480
K D P Q D Y P D K K S L P H V H V A L W p.1160
. . . . . . g.132634
ATAAATTCTCAAGGAGGCAGAAAGGTGAAAGCTGGAGATACTGTGTCATATGTCATCTGT c.3540
I N S Q G G R K V K A G D T V S Y V I C p.1180
| 32 . . . . . . g.137537
CAG | GATGGATCAAACCTCACTGCAAGTCAGAGGGCCTATGCGCCTGAGCAGCTGCAGAAA c.3600
Q | D G S N L T A S Q R A Y A P E Q L Q K p.1200
. . . . . . g.137597
CAGGATAATCTAACCATTGACACCCAGTACTACCTGGCCCAGCAGATCCACCCAGTCGTG c.3660
Q D N L T I D T Q Y Y L A Q Q I H P V V p.1220
. . . . . | 33 g.152707
GCTCGGATCTGTGAACCAATAGACGGAATTGATGCTGTCCTCATTGCAACGTGGTTGG | GA c.3720
A R I C E P I D G I D A V L I A T W L G | p.1240
. . . . . . g.152767
CTTGACCCCACCCAATTTAGAGTTCATCATTATCATAAAGATGAAGAGAATGATGCTCTA c.3780
L D P T Q F R V H H Y H K D E E N D A L p.1260
. . . . . . g.152827
CTTGGTGGCCCAGCACAGCTCACTGATGAAGAGAAATACAGGGACTGTGAAAGATTCAAA c.3840
L G G P A Q L T D E E K Y R D C E R F K p.1280
. . . . . | 34. g.154602
TGTCCATGCCCTACATGTGGAACTGAGAATATTTATGATAATGTCTTTGATGGTTCG | GGA c.3900
C P C P T C G T E N I Y D N V F D G S | G p.1300
. . . . . . g.154662
ACAGATATGGAGCCCAGCTTGTATCGTTGCAGTAACATCGATTGTAAGGCTTCACCTCTG c.3960
T D M E P S L Y R C S N I D C K A S P L p.1320
. . . . . . g.154722
ACCTTTACAGTACAACTGAGCAACAAATTGATCATGGACATTAGACGTTTCATTAAAAAG c.4020
T F T V Q L S N K L I M D I R R F I K K p.1340
| 35 . . . . . g.199110
TACTATGAT | GGCTGGTTGATATGTGAAGAGCCAACCTGTCGCAATCGAACTCGTCACCTT c.4080
Y Y D | G W L I C E E P T C R N R T R H L p.1360
. . . . . . g.199170
CCCCTTCAATTCTCCCGAACTGGGCCTCTTTGCCCAGCCTGCATGAAAGCTACACTTCAA c.4140
P L Q F S R T G P L C P A C M K A T L Q p.1380
| 36 . . . . . . g.241560
CCAGAG | TATTCTGACAAGTCCCTGTACACCCAGCTGTGCTTTTACCGGTACATTTTTGAT c.4200
P E | Y S D K S L Y T Q L C F Y R Y I F D p.1400
. . . . | 37 . . g.306875
GCGGAGTGTGCACTGGAGAAACTTACTACCGATCATGAGAAAG | ATAAATTGAAGAAGCAA c.4260
A E C A L E K L T T D H E K D | K L K K Q p.1420
. . . . . . g.306935
TTTTTTACCCCCAAAGTTCTGCAGGACTACAGAAAACTCAAGAACACAGCAGAGCAATTC c.4320
F F T P K V L Q D Y R K L K N T A E Q F p.1440
. . . . . . g.306995
TTGTCCCGAAGTGGCTACTCCGAAGTGAATCTGAGCAAACTCTTCGCTGGTTGTGCCGTG c.4380
L S R S G Y S E V N L S K L F A G C A V p.1460
g.307004
AAATCCTAA c.4389
K S X p.1462
. . . . . . g.307064
gggaatcccaggagtaaccaaggagggggtagttgaaaaatcccagcttcctctgtgcct c.*60
. . . . . . g.307124
ccactctggccctaaatgctcctccagcatctgtttctcccttgggactgtgtctcatgt c.*120
. . . . . . g.307184
ttgtgtgaatgtagaccaggaaagggggctgcaaaaatgttgagtctaatgttcgtaagc c.*180
. . . . . . g.307244
atcatagaaattcctgtcttcatattaagatgtactgctttaaaacacaactccagagcc c.*240
. . . . . . g.307304
cctccccaagctcccctccccaagctcctgaagacccggtttctgagggagggaaattgc c.*300
. . . . . . g.307364
tacttggattgagagtagctggaatgtaagtgaccccaggctttgcctcagggcctttag c.*360
. . . . . . g.307424
cctatgtcccccccacataaagagagcttctcagagcctgactgaagagctgacgttttg c.*420
. . . . . . g.307484
ctttttcatatgccaattaaacccggtctaaatccaaatgcttctccagccatccaggag c.*480
. . . . . . g.307544
tggctgtccttttcagtcttgtcttttatataggtagctgagggggaagatttagaagcc c.*540
. . . . . . g.307604
ttgcactcactaaatagattaaacagagcaggcttgtttgttgaattgctccaaagtcca c.*600
. . . . . . g.307664
acagacacacactgagcaggtgttttacactcacattccctttttgccccttaaatagaa c.*660
. . . . . . g.307724
agtgcaggtaaaggtttatacaacaagaaagcacattgaaaataatttgatactctaaca c.*720
. . . . . . g.307784
atccattaacatgtgtaggggttacggtgaggatcactgtgttgtattcagaaaaacggg c.*780
. . . . . . g.307844
gagagggatgcttaattggccctggcgcttgctatttttttctcatttcttcacaatagg c.*840
. . . . . . g.307904
accgtctttggcagcagcaaaatgtatttcagtatggcagtctttcctctcttacattat c.*900
. . . . . . g.307964
tggtaagattatactaacaaaatgtttccccttgtacaattatgctgtgtttttaaaaaa c.*960
. . . . . . g.308024
cattgacctgtgtgtttttataaaagaaaaagtatgttgtgccttcttcttaagaataaa c.*1020
. g.308040
gttttctaaagggaaa c.*1036
(downstream sequence)
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