(used for variant description)
(last modified December 17, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001256849.1 in the POLD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering POLD1 transcript NM_001256849.1.
(upstream sequence)
. g.5012
ggcttgcgcgcg c.-61
. . . . . . | 02 g.19529
cgggagtcaggggtcacggcggcgtaggctgtggcgggaaacgctgtttgaagcgg | cagg c.-1
. . . . . . g.19589
ATGGATGGCAAGCGGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGGCCCGTGGG c.60
M D G K R R P G P G P G V P P K R A R G p.20
. . . . . . g.19649
GGCCTCTGGGATGATGATGATGCACCTCGGCCATCCCAATTCGAGGAGGACCTGGCACTG c.120
G L W D D D D A P R P S Q F E E D L A L p.40
. . . . . . g.19709
ATGGAGGAGATGGAGGCAGAACACAGGCTGCAGGAGCAGGAGGAGGAGGAGCTGCAGTCA c.180
M E E M E A E H R L Q E Q E E E E L Q S p.60
. . | 03 . . . . g.20086
GTCCTGGAGGGGGTTGCAGACG | GGCAGGTCCCACCATCAGCCATAGATCCTCGCTGGCTT c.240
V L E G V A D G | Q V P P S A I D P R W L p.80
. . . . . . g.20146
CGGCCCACACCACCAGCGCTGGACCCCCAGACAGAGCCCCTCATCTTCCAACAGTTGGAG c.300
R P T P P A L D P Q T E P L I F Q Q L E p.100
. | 04 . . . . . g.22499
ATTGACCATTATGTGG | GCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGC c.360
I D H Y V G | P A Q P V P G G P P P S R G p.120
. . . . . . g.22559
TCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCAC c.420
S V P V L R A F G V T D E G F S V C C H p.140
. . . . | 05 . . g.22693
ATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTG | GTTTCGGGCCCGAGCAC c.480
I H G F A P Y F Y T P A P P G | F G P E H p.160
. . . . . . g.22753
ATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGG c.540
M G D L Q R E L N L A I S R D S R G G R p.180
. . . . | 06 . g.22893
GAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGA | GCATGTTTGGG c.600
E L T G P A V L A V E L C S R E S | M F G p.200
. . . . . . g.22953
TACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTG c.660
Y H G H G P S P F L R I T V A L P R L V p.220
. . . . . . g.23013
GCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGC c.720
A P A R R L L E Q G I R V A G L G T P S p.240
. . . | 07 . . g.23153
TTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCG | GTTCATGGTGGACACGGACATC c.780
F A P Y E A N V D F E I R | F M V D T D I p.260
. . . . . . g.23213
GTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAG c.840
V G C N W L E L P A G K Y A L R L K E K p.280
| 08 . . . . . . g.23349
| GCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCG c.900
| A T Q C Q L E A D V L W S D V V S H P P p.300
. . . . . . g.23409
GAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCC c.960
E G P W Q R I A P L R V L S F D I E C A p.320
. | 09 . . . . . g.23780
GGCCGCAAAG | GCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTG c.1020
G R K G | I F P E P E R D P V I Q I C S L p.340
. . . . . . g.23840
GGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGT c.1080
G L R W G E P E P F L R L A L T L R P C p.360
. . . . . | 10. g.24173
GCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAG | GCC c.1140
A P I L G A K V Q S Y E K E E D L L Q | A p.380
. . . . . . g.24233
TGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAAC c.1200
W S T F I R I M D P D V I T G Y N I Q N p.400
. . . . | 11 . . g.26877
TTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAG | GTACAAACATTCCCTTTC c.1260
F D L P Y L I S R A Q T L K | V Q T F P F p.420
. . . . . . g.26937
CTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAG c.1320
L G R V A G L C S N I R D S S F Q S K Q p.440
. . . . . . g.26997
ACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTG c.1380
T G R R D T K V V S M V G R V Q M D M L p.460
| 12 . . . . . . g.27141
CAG | GTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCAC c.1440
Q | V L L R E Y K L R S Y T L N A V S F H p.480
. . . . . | 13 . g.27666
TTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAG | AATGGG c.1500
F L G E Q K E D V Q H S I I T D L Q | N G p.500
. . . . . . g.27726
AACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTG c.1560
N D Q T R R R L A V Y C L K D A Y L P L p.520
. . . . . . g.27786
CGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGC c.1620
R L L E R L M V L V N A V E M A R V T G p.540
. . . . . . g.27846
GTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTG c.1680
V P L S Y L L S R G Q Q V K V V S Q L L p.560
| 14 . . . . . . g.28058
CGGCAG | GCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGAC c.1740
R Q | A M H E G L L M P V V K S E G G E D p.580
. . . | 15 . . . g.29487
TACACGGGAGCCACTGTCATCGAGCCCCTCAAAGG | GTACTACGACGTCCCCATCGCCACC c.1800
Y T G A T V I E P L K G | Y Y D V P I A T p.600
. . . . . . g.29547
CTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACG c.1860
L D F S S L Y P S I M M A H N L C Y T T p.620
. . . | 16 . . . g.29827
CTCCTTCGGCCCGGGACTGCACAGAAACTGGG | CCTGACTGAGGATCAGTTCATCAGGACC c.1920
L L R P G T A Q K L G | L T E D Q F I R T p.640
. . . . . . g.29887
CCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTG c.1980
P T G D E F V K T S V R K G L L P Q I L p.660
. . | 17 . . . . g.30230
GAGAACCTGCTCAGTGCCCGGAAGAG | GGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCC c.2040
E N L L S A R K R | A K A E L A K E T D P p.680
. . . . . . g.30290
CTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTA c.2100
L R R Q V L D G R Q L A L K V S A N S V p.700
. . . . . | 18 . g.34109
TACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAG | AGCGTC c.2160
Y G F T G A Q V G K L P C L E I S Q | S V p.720
. . . . . . g.34169
ACGGGGTTCGGACGTCAGATGATCGAGAAAACCAAGCAGCTGGTGGAGTCTAAGTACACA c.2220
T G F G R Q M I E K T K Q L V E S K Y T p.740
. . . | 19 . . . g.34449
GTGGAGAATGGCTACAGCACCAGTGCCAAG | GTGGTGTATGGTGACACTGACTCCGTCATG c.2280
V E N G Y S T S A K | V V Y G D T D S V M p.760
. . . . . . g.34509
TGCCGATTCGGCGTGTCCTCGGTGGCTGAGGCGATGGCCCTGGGGCGGGAGGCCGCGGAC c.2340
C R F G V S S V A E A M A L G R E A A D p.780
. . . . | 20 . g.35504
TGGGTGTCAGGTCACTTCCCGTCGCCCATCCGGCTGGAGTTTGAGAAG | GTCTACTTCCCA c.2400
W V S G H F P S P I R L E F E K | V Y F P p.800
. . . . . . g.35564
TACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCC c.2460
Y L L I S K K R Y A G L L F S S R P D A p.820
. . . . . . g.35624
CACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTG c.2520
H D R M D C K G L E A V R R D N C P L V p.840
. . . . | 21 . . g.36131
GCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCG | AGACCCTGAGGGCGCG c.2580
A N L V T A S L R R L L I D R | D P E G A p.860
. . . . . . g.36191
GTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAG c.2640
V A H A Q D V I S D L L C N R I D I S Q p.880
. . . . . . g.36251
CTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCAC c.2700
L V I T K E L T R A A S D Y A G K Q A H p.900
. | 22. . . . . g.36444
GTGGAGCTGGCCGAGAG | GATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGAC c.2760
V E L A E R | M R K R D P G S A P S L G D p.920
. . . . . . g.36504
CGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAG c.2820
R V P Y V I I S A A K G V A A Y M K S E p.940
| 23 . . . . . . g.37133
| GACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAG c.2880
| D P L F V L E H S L P I D T Q Y Y L E Q p.960
. . . . . . g.37193
CAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAG c.2940
Q L A K P L L R I F E P I L G E G R A E p.980
. | 24 . . . . . g.37334
GCTGTGCTACTGC | GGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGC c.3000
A V L L R | G D H T R C K T V L T G K V G p.1000
. . . . . . g.37394
GGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGC c.3060
G L L A F A K R R N C C I G C R T V L S p.1020
| 25. . . . . . g.37775
CACCAGG | GAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAG c.3120
H Q G | A V C E F C Q P R E S E L Y Q K E p.1040
| 26 . . . . . . g.37909
| GTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGC c.3180
| V S H L N A L E E R F S R L W T Q C Q R p.1060
. . . | 27 . . g.38541
TGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAG | CCGGGACTGCCCCATCTTCTAC c.3240
C Q G S L H E D V I C T S | R D C P I F Y p.1080
. . . . . . g.38601
ATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGA c.3300
M R K K V R K D L E D Q E Q L L R R F G p.1100
. . g.38625
CCCCCTGGACCTGAGGCCTGGTGA c.3324
P P G P E A W X p.1107
. . . . . . g.38685
ccttgcaagcatcccatggggcgggggcgggaccagggagaattaataaagttctggact c.*60
. g.38696
tttgctatatg c.*71
(downstream sequence)
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