(used for variant description)
(last modified February 24, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_017736.3 in the THUMPD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering THUMPD1 transcript NM_017736.3.
(upstream sequence)
. g.5018
gcagcacggaatgaggct c.-121
. . . . . . g.5078
tcgaggccggctaggggaggccgtcgctcatatccgacgtcaccagttcgcgccggcgat c.-61
. . . . . . g.5138
agacgaggacgccaacagcagcggagaaacgtttctctttcctctcagtttgcgcacacc c.-1
. . . . . . g.5198
ATGGCGGCCCCTGCCCAGCAGACTACTCAGCCTGGCGGCGGGAAGCGCAAAGGCAAGGCT c.60
M A A P A Q Q T T Q P G G G K R K G K A p.20
. . . . . . g.5258
CAGTATGTGCTGGCCAAGCGCGCTCGGCGCTGCGACGCTGGCGGGCCCCGTCAGCTAGAG c.120
Q Y V L A K R A R R C D A G G P R Q L E p.40
. . . . . . g.5318
CCCGGGCTACAGGGCATCCTCATCACCTGCAATATGAACGAGCGCAAGTGCGTGGAGGAG c.180
P G L Q G I L I T C N M N E R K C V E E p.60
. . . . . | 02 . g.7815
GCCTACAGCCTCCTCAACGAATACGGCGACGACATGTATGGGCCAGAAAAG | TTTACAGAC c.240
A Y S L L N E Y G D D M Y G P E K | F T D p.80
. . . . . . g.7875
AAGGATCAGCAGCCCTCTGGAAGTGAGGGAGAGGATGATGATGCGGAGGCTGCCTTGAAG c.300
K D Q Q P S G S E G E D D D A E A A L K p.100
. . . . . . g.7935
AAAGAAGTTGGTGACATTAAGGCATCTACAGAGATGAGGTTAAGAAGATTCCAGTCAGTG c.360
K E V G D I K A S T E M R L R R F Q S V p.120
. . . . | 03 . . g.8935
GAAAGTGGAGCAAATAACGTTGTCTTCATCAGGACACTTGGGATAG | AGCCTGAGAAATTG c.420
E S G A N N V V F I R T L G I E | P E K L p.140
. . . . . . g.8995
GTGCATCATATTCTCCAGGATATGTACAAAACCAAGAAAAAGAAGACTCGAGTTATTTTG c.480
V H H I L Q D M Y K T K K K K T R V I L p.160
. . . . . . g.9055
CGAATGTTACCCATCTCAGGCACATGCAAGGCTTTTTTAGAAGATATGAAAAAATATGCA c.540
R M L P I S G T C K A F L E D M K K Y A p.180
. . . . . . g.9115
GAAACATTTTTGGAACCCTGGTTTAAAGCTCCAAACAAAGGGACATTTCAGATTGTGTAC c.600
E T F L E P W F K A P N K G T F Q I V Y p.200
. . . . . | 04 . g.9596
AAATCTCGAAATAACAGTCATGTGAATAGAGAAGAAGTTATCAGAGAATTGGCAG | GAATA c.660
K S R N N S H V N R E E V I R E L A G | I p.220
. . . . . . g.9656
GTGTGCACCCTCAATTCAGAAAATAAAGTGGATCTCACCAATCCACAGTACACAGTGGTA c.720
V C T L N S E N K V D L T N P Q Y T V V p.240
. . . . . . g.9716
GTAGAAATCATCAAAGCTGTCTGTTGCCTGAGTGTTGTGAAAGATTACATGTTGTTTAGA c.780
V E I I K A V C C L S V V K D Y M L F R p.260
. . . . . . g.9776
AAATACAATCTCCAGGAGGTGGTGAAGAGCCCTAAGGATCCGTCACAGCTTAACTCAAAG c.840
K Y N L Q E V V K S P K D P S Q L N S K p.280
. . . . . . g.9836
CAGGGAAATGGGAAAGAAGCTAAACTGGAATCTGCGGACAAATCAGACCAAAACAACACA c.900
Q G N G K E A K L E S A D K S D Q N N T p.300
. . . . . . g.9896
GCAGAAGGAAAAAATAACCAGCAGGTACCAGAGAATACTGAGGAGCTGGGGCAGACAAAA c.960
A E G K N N Q Q V P E N T E E L G Q T K p.320
. . . . . . g.9956
CCAACGTCTAATCCACAGGTGGTAAATGAGGGAGGAGCCAAACCTGAACTTGCAAGTCAA c.1020
P T S N P Q V V N E G G A K P E L A S Q p.340
. . . . g.9998
GCCACAGAAGGATCCAAGTCAAATGAAAATGACTTCTCATAG c.1062
A T E G S K S N E N D F S X p.353
. . . . . . g.10058
gaagtcatttggtgttggaggtgggtttctcacctggggctctacgagatgttgctgggg c.*60
. . . . . . g.10118
ctccaccttaaattgtgactaaaaacagttttttatttgtgtgctgcattatgctgttct c.*120
. . . . . . g.10178
cacagtagtgagcaatgattgcgcagccctgttaacagtttttttagggatctttcagcc c.*180
. . . . . . g.10238
tttatggtattacgtagaggcagacccatgtgctgctgttgcaaagaggggaggatagga c.*240
. . . . . . g.10298
gggggatgttggcctctcccaggctcctcttctgcagtgccagctgacttaagggagtga c.*300
. . . . . . g.10358
actacctgtgaagtagaaaatcagagggaagttttcattctaaggaaggagtttttacat c.*360
. . . . . . g.10418
gccacagctcagctgtctgcctgccactttgttgtaaacattgcaaaaatgtggatcatg c.*420
. . . . . . g.10478
taggttagaagtgaattgtttagtgaagtttttgtacttttgtgattttcttgtttatgt c.*480
. . . . . . g.10538
ctgttttttttttttttttttaacatttgtgtgtaatatagctgacagtccagtgtcgca c.*540
. . . . . . g.10598
attttggaaggcaagatgtgagagagacgagaaccattttaggcatagaactacagacat c.*600
. . . . . . g.10658
ttctgaaaaggttggtgatgaagaacttcagtcttctgagtatacttcagtatactagtg c.*660
. . . . . . g.10718
caacaagggacacaaagaaattctgtcttaataaagaaagctacttctcaagggtattat c.*720
. . . . . . g.10778
gtggactcagtccaagctctcctgtcccattgtgcattgtctgtgacatgcaacttacaa c.*780
. . . . . . g.10838
aactagcaattgtaacaataaatcacagccacttgacaagaaaggatattcattattttc c.*840
. . . . . . g.10898
aaatggcttttggactatcaaaaacagtaaggcttttgttcagaaatcacctttagtcaa c.*900
. . . . . . g.10958
aaggtttaagaagcaaattatttagtagcagaacttatctcaggaaaggaaaatatgcat c.*960
. . . . . . g.11018
ggttggtgagaatctaataacattaaaatgctggggcaagatgcagtacaaagttgaaga c.*1020
. . . . . . g.11078
gactttattctcaataagttgatttactgatgatatgtcatatgatgcaaaaaaggtttt c.*1080
. . . . . . g.11138
gtgtcattaactgaaaagtagcagcttctctatccaggatgatgagtcaacaggtttcac c.*1140
. . . . . . g.11198
taatatttgtcatgctgtagcatttgtaagatttgtaaatgatgaaattcaaagaaaact c.*1200
. . . . . . g.11258
ttttctattgctaggagcctgccagaacaaaggccaatatataatgttgtgacatcatat c.*1260
. . . . . . g.11318
ctgataaccagaggtctggtatctacactcctggtgccccatcagtggttgtctccataa c.*1320
. . . . . . g.11378
gtcattttgcgttattaaaaaaaaaaaaagaaatcctgatgttgacattatagcacactg c.*1380
. . . . . . g.11438
ctttctccacagagatgctgatatcaaaaacttgaagatacagtgaagttctgaataatg c.*1440
. . . . . . g.11498
ttacaaaactggttacctgtatcaaagacccatttatgcaaaaatgttaaaaaaaaaaaa c.*1500
. . . . . . g.11558
aaacacccaaaacaaaaacctggacagacagcacataaacctcctgcaccatacagacat c.*1560
. . . . . . g.11618
ccagtggcttctcagaggaagcgttctctacaggatatttgaattgaaaggtgaattgcc c.*1620
. . . . . . g.11678
agagtacttacaataaaacagccagcttttgctgagtgctttggaaatgaaaaatgacta c.*1680
. . . . . . g.11738
cagaaagtagcctattttgcagacgtttttcatcacatgaacaaatggacaagtctctga c.*1740
. . . . . . g.11798
aaggttctggggaaaaaaatttttcttaaagcgacaagactcttagatctaaaaggaaac c.*1800
. . . . . . g.11858
tgacttgccaccttgccagaggaattcttgaaatgtttctgcagccacttggccttgaaa c.*1860
. . . . . . g.11918
ataaagggtgcaactctcaaatcttgttctaacccggctggaggaaccacaagacccaat c.*1920
. . . . . . g.11978
gaaatagcattttctctccttttcccagcactagtatataacctatgaggaacccttgtc c.*1980
. . . . . . g.12038
tctgaatctgctcagcttgaaattttgtctctgaaggaagagaatgaactcagccctagt c.*2040
. . . . . . g.12098
ctgacagtcctagatttctgtgaaataagagtattcttcaacttagtgctcacactcaca c.*2100
. . . . . . g.12158
taccatgagggttctctgcaggggtttaggggtttcctgaatttgaaagttttttcaagg c.*2160
. . . . . . g.12218
cctctttttgggtaaaacaattgaaaaggcagacaccaacaaagtctgcaaaattaactg c.*2220
. . . . . . g.12278
tccagattaagaatattaaggagctgtaaaattagcttgtagaaatggacttatccttaa c.*2280
. . . . . . g.12338
gttttaaaaagttaggaaatcctaaaaatgttaggcttcctgcacaagtggctatgttca c.*2340
. . . . . . g.12398
tttaatggctagtgaacatgggaatgtatttttatcctcctagctggtggttctgtttgg c.*2400
. . . . . . g.12458
taaaccagactagaatgatttgagaggggcaaagagaataggcaggaccttccttctata c.*2460
. . . . . . g.12518
gctttacatatttagaatgttaatacttaatgacattgaagttaccttgcaatgattgat c.*2520
. . . . . . g.12578
aagaggattattaatatcagttaggggaatagggaggataggattttggtgccttcttca c.*2580
. . . . . . g.12638
gcagacttgctccaagacaaagattctattttgatagtgcaagacaaaaggactcggaag c.*2640
. . . . . . g.12698
aaaattggccatatgcctacagagcatacaactctgtggaactaaattgtttttactttg c.*2700
. . . . . . g.12758
tgaaagctgctattttacggaaagattttgattatacagtttgtttttaaattgtctttt c.*2760
. . . . . . g.12818
atatttatttgtatttggtaagaatcggttgttacacaagctgttctttcccagttacaa c.*2820
. . . . . . g.12878
aatcctgtgttcggttgtaacctgaactcattaaaagacttgttttcaggtttatcaact c.*2880
. . . . . . g.12938
gtttattttcactgacatttgagcatgttattttataaatgacgggattccagggtagga c.*2940
. . . . . . g.12998
agtgctttttattccccttttgttttttcttttaaaaaattacgtcagttaaaaaaataa c.*3000
. . . . . . g.13058
aaaaactgcagtcttatggtttagaaaacttgtttagctccatagaggaaagaatgttaa c.*3060
. . . . . . g.13118
actttgtattttaaaacatgattctctgaggttaaacttggttttcaaatgttattttta c.*3120
. . . . . . g.13178
cttgtattttgcttttggtacggccagaaatcgagcttgttttttcatagttcctgatat c.*3180
. . . g.13214
tttcagaaaaatcaaaataaatttgttccctaaaaa c.*3216
(downstream sequence)
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