(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_015450.2 in the POT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029232.1, covering POT1 transcript NM_015450.2.
(upstream sequence)
g.5001
g c.-601
. . . . . . g.5061
tcagtatttcgccaaacctccaggcgccatcagtgtgtgaaccgttacgcagctggtcca c.-541
. . . . . . g.5121
ccgcgggcggagaacaagcgactatgcccagggatcctgcacgcatgcgtggagctgaac c.-481
. . . . . . g.5181
cgtcagcgtgcgtgtgacgtcacctgcgcgcccgcctaaactcttcctagggttctttct c.-421
. | 02 . . . . g.6035
agagtacgg | cagcaagttgtcagattccctagttgaatttgctttggacatcagtgtgaa c.-361
. . . . . . g.6095
gcagaactgatatgccacttgaattaataaaggaagtcaatggggtgcctgaagttcagc c.-301
. . . . . . g.6155
cgctgagtaaattacataaagtagatttcggatccctacagccaggttacaattatagca c.-241
. . | 03 . . . . g.19383
agaaatatattcag | ggaaaactttcacttatctcttctttaacttatcgtggaaataaaa c.-181
. . . | 04 . . . g.36642
cagctgttttgcagattggactacaag | gacaccattgcagtggctagatttattgttttt c.-121
. . . . . . g.36702
ttagcttcttcatctacaagcagagatggtaaaccttgcatatttttgaaagcatttgaa c.-61
. . . | 05 . . . g.37810
gacctcaaatcaactgtttat | gtttatgtcaaatctttaagagatttttctacagaatca c.-1
| 06 . . . . . g.42654
ATGTCTTTG | GTTCCAGCAACAAATTATATATATACACCCCTGAATCAACTTAAGGGTGGT c.60
M S L | V P A T N Y I Y T P L N Q L K G G p.20
. . . . . . g.42714
ACAATTGTCAATGTCTATGGTGTTGTGAAGTTCTTTAAGCCCCCATATCTAAGCAAAGGA c.120
T I V N V Y G V V K F F K P P Y L S K G p.40
| 07 . . . . . . g.63998
ACTG | ATTATTGCTCAGTTGTAACTATTGTGGACCAGACAAATGTAAAACTAACTTGCCTG c.180
T D | Y C S V V T I V D Q T N V K L T C L p.60
. . . . . . g.64058
CTCTTTAGTGGAAACTATGAAGCCCTTCCAATAATTTATAAAAATGGAGATATTGTTCGC c.240
L F S G N Y E A L P I I Y K N G D I V R p.80
. | 08 . . . . . g.71388
TTTCACAGGCTGAAG | ATTCAAGTATATAAAAAGGAGACTCAGGGTATCACCAGCTCTGGC c.300
F H R L K | I Q V Y K K E T Q G I T S S G p.100
. . . . . . g.71448
TTTGCATCTTTGACGTTTGAGGGAACTTTGGGAGCCCCTATCATACCTCGCACTTCAAGC c.360
F A S L T F E G T L G A P I I P R T S S p.120
. . . . . . g.71508
AAGTATTTTAACTTCACTACTGAGGACCACAAAATGGTAGAAGCCTTACGTGTTTGGGCA c.420
K Y F N F T T E D H K M V E A L R V W A p.140
. . . . . . g.71568
TCTACTCATATGTCACCGTCTTGGACATTACTAAAATTGTGTGATGTTCAGCCAATGCAG c.480
S T H M S P S W T L L K L C D V Q P M Q p.160
. . . . . . g.71628
TATTTTGACCTGACTTGTCAGCTCTTGGGCAAAGCAGAAGTGGACGGAGCATCATTTCTT c.540
Y F D L T C Q L L G K A E V D G A S F L p.180
| 09 . . . . . . g.75925
CTAAAG | GTATGGGATGGCACCAGGACACCATTTCCATCTTGGAGAGTCTTAATACAAGAC c.600
L K | V W D G T R T P F P S W R V L I Q D p.200
. . . . . . g.75985
CTTGTTCTTGAAGGTGATTTAAGTCACATCCATCGGCTACAAAATCTGACAATAGACATT c.660
L V L E G D L S H I H R L Q N L T I D I p.220
. . . . | 10 . . g.81863
TTAGTCTACGATAACCATGTTCATGTGGCAAGATCTCTGAAG | GTTGGAAGCTTTCTTAGA c.720
L V Y D N H V H V A R S L K | V G S F L R p.240
. . . . . . g.81923
ATCTATAGCCTTCATACCAAACTTCAATCAATGAATTCAGAGAATCAGACAATGTTAAGT c.780
I Y S L H T K L Q S M N S E N Q T M L S p.260
. . . . . . g.81983
TTAGAGTTTCATCTTCATGGAGGTACCAGTTACGGTCGGGGAATCAGGGTCTTGCCAGAA c.840
L E F H L H G G T S Y G R G I R V L P E p.280
. . | 11 . . . g.83063
AGTAACTCTGATGTGGATCAACTGAAAAA | GGATTTAGAATCTGCAAATTTGACAGCCAAT c.900
S N S D V D Q L K K | D L E S A N L T A N p.300
. . . . | 12 . g.87996
CAGCATTCAGATGTTATCTGTCAATCAGAACCTGACGACAGCTTTCCAA | GCTCTGGATCA c.960
Q H S D V I C Q S E P D D S F P S | S G S p.320
. . . . | 13 . . g.92034
GTATCATTATACGAGGTAGAAAGATGTCAACAGCTATCTGCTACAA | TACTTACAGATCAT c.1020
V S L Y E V E R C Q Q L S A T I | L T D H p.340
. . . . . . g.92094
CAGTATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATAC c.1080
Q Y L E R T P L C A I L K Q K A P Q Q Y p.360
. . . . . . g.92154
CGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAGTCTGTTAAACTT c.1140
R I R A K L R S Y K P R R L F Q S V K L p.380
. . | 14 . . . . g.93842
CATTGCCCTAAATGTCATTTGCT | GCAAGAAGTTCCACATGAGGGCGATTTGGATATAATT c.1200
H C P K C H L L | Q E V P H E G D L D I I p.400
. . . . . . g.93902
TTTCAGGATGGTGCAACTAAAACCCCAGATGTCAAGCTACAAAATACATCATTATATGAT c.1260
F Q D G A T K T P D V K L Q N T S L Y D p.420
. . . . . . g.93962
TCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGTAGCAGTTCATTTTGTGAAA c.1320
S K I W T T K N Q K G R K V A V H F V K p.440
. . . . | 15 . g.99580
AATAATGGTATTCTCCCGCTTTCAAATGAATGTCTACTTTTGATAGAAG | GAGGTACACTC c.1380
N N G I L P L S N E C L L L I E G | G T L p.460
. . . . . . g.99640
AGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCAC c.1440
S E I C K L S N K F N S V I P V R S G H p.480
. . . . . . g.99700
GAAGACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCAC c.1500
E D L E L L D L S A P F L I Q G T I H H p.500
| 16 . . . . . . g.105696
TATGG | ATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAATTCCCTGGTTGAT c.1560
Y G | C K Q C S S L R S I Q N L N S L V D p.520
. . . | 17 . . . g.107704
AAAACATCGTGGATTCCTTCTTCTGTGGCAGAAG | CACTGGGTATTGTACCCCTCCAATAT c.1620
K T S W I P S S V A E A | L G I V P L Q Y p.540
. . . . . . g.107764
GTGTTTGTTATGACCTTTACACTTGATGATGGAACAGGAGTACTAGAAGCCTATCTCATG c.1680
V F V M T F T L D D G T G V L E A Y L M p.560
| 18 . . . . . . g.109680
GATTCT | GACAAATTCTTCCAGATTCCAGCATCAGAAGTTCTGATGGATGATGACCTTCAG c.1740
D S | D K F F Q I P A S E V L M D D D L Q p.580
. . . . . | 19 . g.110917
AAAAGTGTGGATATGATCATGGATATGTTTTGTCCTCCAGGAATAAAAATTG | ATGCATAT c.1800
K S V D M I M D M F C P P G I K I D | A Y p.600
. . . . . . g.110977
CCGTGGTTGGAATGCTTCATCAAGTCATACAATGTCACAAATGGAACAGATAATCAAATT c.1860
P W L E C F I K S Y N V T N G T D N Q I p.620
. . . . g.111022
TGCTATCAGATTTTTGACACCACAGTTGCAGAAGATGTAATCTAA c.1905
C Y Q I F D T T V A E D V I X p.634
. . . . . . g.111082
tattgccatccaatttagcatacataaaatgttgccactcaccttccctgtttgagcttc c.*60
. . . . . . g.111142
ttttcctgacctgagttttgtatcagcaatgttgatgatgttagcatgggtatgggatta c.*120
. . . . . . g.111202
gaaaatgtccttaccttaaatctcttggcttttactgggtgcaaggtaaataatggctat c.*180
. . . . . . g.111262
ggattttgttttgctttctgttttgcttttgtacaaagagacctgcttaaacaagtactg c.*240
. . . . . . g.111322
ctgagataagtgtctgatcaagctacagtgtactttaagtagaaatggcaaagttgcttt c.*300
. . . . . . g.111382
gttggggtgctgatactgatgattttaggataaattcatttctttaaacttgtaatacat c.*360
. . . . . . g.111442
ggttttattgcttgtttctctccaggatagtagagatttctctatttcacctcaacctaa c.*420
. . . . . . g.111502
taaaagtggtcagatttataatgttaatgacttaatattatccttttctaatagtctcat c.*480
. . . . . . g.111562
gtaaaatatgccgctattacaacttacaactaattgaatgagatgttaacttagtaaaat c.*540
. . . . . . g.111622
agtttgatttttacctgacagtgtttgtcaaatttaaaatcatgaatattcaattttata c.*600
. . . . . . g.111682
caaacatttatatatatatatatagatttgtgtatgttatttgccaaagacagatataaa c.*660
. . . . . . g.111742
ttacctggtttaatattagtgaagaataaataagtgcacacatttcaactgtttcattta c.*720
. . . . . . g.111802
tttgccctaagttgagctgaaaaatgatatgaggcaaagaatcgaaataggtgtggcaat c.*780
. . . . . . g.111862
gcagcagatgtttagggctgtctacatcccaggtactgtgctaagcactaaacatgtatt c.*840
. . . . . . g.111922
tgatcctcacagcaacctatttttccgataagaaatctgaggcttgattgataagctgac c.*900
. . . . . . g.111982
ttgactaagttcacacagtttgtaaaagctagagtctgtgccttaattcacataatctct c.*960
. . . . . . g.112042
attcagagcctgtactgttaaccactcaaggattctggaacagaagctaacagttttctg c.*1020
. . . . . . g.112102
caacgagtctttgacttaaacatctgaaataacattggaaatagattataagaggagtca c.*1080
. . . . . . g.112162
gtgtgtttttctatagtttcaaaatacttttaacatcttattgtcaaaaagattggataa c.*1140
. . . . . . g.112222
ctgactttctttgctcataataactctaaattctagttcctgagtacattaacacatctt c.*1200
. . . . . . g.112282
ctttacctaactaccaatgtcccccatcatcgacttatcagcttgtttgagacaatgaga c.*1260
. . . . . . g.112342
aagactgattttattttcaagaatatagactcttggttcaaaacattttcaggaaaaata c.*1320
. . . . . . g.112402
ttttaaaaccctacagttgaacaggtgtgtttccgtgttgatgatgtgctcaggatacaa c.*1380
. . . . . . g.112462
aggtgaaataaacattttttctgccttcaggaagccctcaatctagaagagtagaggtcc c.*1440
. . . . . . g.112522
aaaggtgccatatgttcacactgtgagcctgcaagatctccacgttaacaaaggaaaact c.*1500
. . . . . . g.112582
cttcctatgaatcttcatgatgataggccatgtctcttcttatttttgttttaaataaac c.*1560
. g.112598
atccaccttatcatga c.*1576
(downstream sequence)
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