(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)Legend:
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