(used for variant description)
(last modified August 24, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000546.5 in the TP53 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017013.2, covering TP53 transcript NM_000546.5.
(upstream sequence)
. . g.5022
gatgggattggggttttcccct c.-181
. . . . . . g.5082
cccatgtgctcaagactggcgctaaaagttttgagcttctcaaaagtctagagccaccgt c.-121
. . . . . . g.5142
ccagggagcaggtagctgctgggctccggggacactttgcgttcgggctgggagcgtgct c.-61
. . . . | 02 . . g.15956
ttccacgacggtgacacgcttccctggattgg | cagccagactgccttccgggtcactgcc c.-1
. . . . . . g.16016
ATGGAGGAGCCGCAGTCAGATCCTAGCGTCGAGCCCCCTCTGAGTCAGGAAACATTTTCA c.60
M E E P Q S D P S V E P P L S Q E T F S p.20
. | 03 . . | 04 . . . g.16302
GACCTATGGAAACT | ACTTCCTGAAAACAACGTTCTG | TCCCCCTTGCCGTCCCAAGCAATG c.120
D L W K L | L P E N N V L | S P L P S Q A M p.40
. . . . . . g.16362
GATGATTTGATGCTGTCCCCGGACGATATTGAACAATGGTTCACTGAAGACCCAGGTCCA c.180
D D L M L S P D D I E Q W F T E D P G P p.60
. . . . . . g.16422
GATGAAGCTCCCAGAATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAGCTCCT c.240
D E A P R M P E A A P P V A P A P A A P p.80
. . . . . . g.16482
ACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGTCATCTTCTGTCCCTTCCCAG c.300
T P A A P A P A P S W P L S S S V P S Q p.100
. . . . . . g.16542
AAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAG c.360
K T Y Q G S Y G F R L G F L H S G T A K p.120
. | 05 . . . . . g.17359
TCTGTGACTTGCACG | TACTCCCCTGCCCTCAACAAGATGTTTTGCCAACTGGCCAAGACC c.420
S V T C T | Y S P A L N K M F C Q L A K T p.140
. . . . . . g.17419
TGCCCTGTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCGCGTCCGCGCCATG c.480
C P V Q L W V D S T P P P G T R V R A M p.160
. . . . . . g.17479
GCCATCTACAAGCAGTCACAGCACATGACGGAGGTTGTGAGGCGCTGCCCCCACCATGAG c.540
A I Y K Q S Q H M T E V V R R C P H H E p.180
. | 06 . . . . g.17620
CGCTGCTCAGATAGCGATG | GTCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAAT c.600
R C S D S D G | L A P P Q H L I R V E G N p.200
. . . . . . g.17680
TTGCGTGTGGAGTATTTGGATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTAT c.660
L R V E Y L D D R N T F R H S V V V P Y p.220
. | 07 . . . . . g.18308
GAGCCGCCTGAG | GTTGGCTCTGACTGTACCACCATCCACTACAACTACATGTGTAACAGT c.720
E P P E | V G S D C T T I H Y N Y M C N S p.240
. . . . . . g.18368
TCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCC c.780
S C M G G M N R R P I L T I I T L E D S p.260
| 08 . . . . . . g.18771
AG | TGGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTGTGCCTGTCCTGGGAGA c.840
S | G N L L G R N S F E V R V C A C P G R p.280
. . . . . . g.18831
GACCGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCACGAGCTGCCC c.900
D R R T E E E N L R K K G E P H H E L P p.300
. | 09 . . . . g.18983
CCAGGGAGCACTAAGCGAG | CACTGCCCAACAACACCAGCTCCTCTCCCCAGCCAAAGAAG c.960
P G S T K R A | L P N N T S S S P Q P K K p.320
. . . | 10 . . . g.21862
AAACCACTGGATGGAGAATATTTCACCCTTCAG | ATCCGTGGGCGTGAGCGCTTCGAGATG c.1020
K P L D G E Y F T L Q | I R G R E R F E M p.340
. . . . . . g.21922
TTCCGAGAGCTGAATGAGGCCTTGGAACTCAAGGATGCCCAGGCTGGGAAGGAGCCAGGG c.1080
F R E L N E A L E L K D A Q A G K E P G p.360
. . | 11 . . . . g.22900
GGGAGCAGGGCTCACTCCAG | CCACCTGAAGTCCAAAAAGGGTCAGTCTACCTCCCGCCAT c.1140
G S R A H S S | H L K S K K G Q S T S R H p.380
. . . . g.22942
AAAAAACTCATGTTCAAGACAGAAGGGCCTGACTCAGACTGA c.1182
K K L M F K T E G P D S D X p.393
. . . . . . g.23002
cattctccacttcttgttccccactgacagcctcccacccccatctctccctcccctgcc c.*60
. . . . . . g.23062
attttgggttttgggtctttgaacccttgcttgcaataggtgtgcgtcagaagcacccag c.*120
. . . . . . g.23122
gacttccatttgctttgtcccggggctccactgaacaagttggcctgcactggtgttttg c.*180
. . . . . . g.23182
ttgtggggaggaggatggggagtaggacataccagcttagattttaaggtttttactgtg c.*240
. . . . . . g.23242
agggatgtttgggagatgtaagaaatgttcttgcagttaagggttagtttacaatcagcc c.*300
. . . . . . g.23302
acattctaggtaggggcccacttcaccgtactaaccagggaagctgtccctcactgttga c.*360
. . . . . . g.23362
attttctctaacttcaaggcccatatctgtgaaatgctggcatttgcacctacctcacag c.*420
. . . . . . g.23422
agtgcattgtgagggttaatgaaataatgtacatctggccttgaaaccaccttttattac c.*480
. . . . . . g.23482
atggggtctagaacttgacccccttgagggtgcttgttccctctccctgttggtcggtgg c.*540
. . . . . . g.23542
gttggtagtttctacagttgggcagctggttaggtagagggagttgtcaagtctctgctg c.*600
. . . . . . g.23602
gcccagccaaaccctgtctgacaacctcttggtgaaccttagtacctaaaaggaaatctc c.*660
. . . . . . g.23662
accccatcccacaccctggaggatttcatctcttgtatatgatgatctggatccaccaag c.*720
. . . . . . g.23722
acttgttttatgctcagggtcaatttcttttttcttttttttttttttttttctttttct c.*780
. . . . . . g.23782
ttgagactgggtctcgctttgttgcccaggctggagtggagtggcgtgatcttggcttac c.*840
. . . . . . g.23842
tgcagcctttgcctccccggctcgagcagtcctgcctcagcctccggagtagctgggacc c.*900
. . . . . . g.23902
acaggttcatgccaccatggccagccaacttttgcatgttttgtagagatggggtctcac c.*960
. . . . . . g.23962
agtgttgcccaggctggtctcaaactcctgggctcaggcgatccacctgtctcagcctcc c.*1020
. . . . . . g.24022
cagagtgctgggattacaattgtgagccaccacgtccagctggaagggtcaacatctttt c.*1080
. . . . . . g.24082
acattctgcaagcacatctgcattttcaccccacccttcccctccttctccctttttata c.*1140
. . . . . . g.24142
tcccatttttatatcgatctcttattttacaataaaactttgctgccacctgtgtgtctg c.*1200
g.24149
aggggtg c.*1207
(downstream sequence)
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