RGD:12834475 Rat Genome Database

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Variant: RGD:12834475 -  Homo sapiens

RGD ID: 12834475
RS ID: rs1057519747
ClinVar ID: CV363548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP53  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 7,578,412
GRCh38 17 7,675,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_321t1:c.518T>A
NP_001263625.1:p.Val134Glu
NP_001263689.1:p.Val134Glu
LRG_321:g.17457T>A
More... 		04/28/2023 missense variant pathogenic|likely pathogenic|uncertain significance adult|all ages 1-5 / 10 000|1-9 / 100 000|20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Adenocarcinoma of stomach; Adrenocortical carcinoma; AllHighlyPenetrant; Brain neoplasm; Brain Neoplasms; Brain tumour; Breast Neoplasms; Breast tumor; Cancer predisposition; Carcinoma, squamous cell of head and neck; Colorectal neoplasm; Colorectal Neoplasms; Cutaneous melanoma; Esophageal carcinoma; Head and neck squamous cell carcinoma; Hepatocellular cancer; Hepatoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; LIVER CELL CARCINOMA; Lung oat cell carcinoma; Malignant melanoma, somatic; Neoplasm of breast; Neoplasm of the breast; Neoplastic Syndromes, Hereditary; Oesophageal carcinoma; Primary carcinoma of liver; Sarcoma family syndrome of Li and Fraumeni; SMALL CELL CANCER OF THE LUNG, SOMATIC; Small cell lung cancer; Squamous cell carcinoma, head and neck, somatic; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:TP53
Accession:NM_001126113
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001407262
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126114
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001407267
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276695
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001407268
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001276760
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407264
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407271
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001276699
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001407266
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276761
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276697
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126112
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407263
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407270
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_000546
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407269
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001126116
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001126118
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276696
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001126115
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSK
KGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126117
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001407265
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276698
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVERRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NR_176326
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12826609   PMID:26619011   PMID:28492532   PMID:29979965   PMID:30224644  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000419351 CLINVAR
  RCV000420346 CLINVAR
  RCV000421130 CLINVAR
  RCV000425654 CLINVAR
  RCV000425882 CLINVAR
  RCV000430481 CLINVAR
  RCV000430605 CLINVAR
  RCV000431387 CLINVAR
  RCV000435883 CLINVAR
  RCV000437016 CLINVAR
  RCV000437139 CLINVAR
  RCV000441782 CLINVAR
  RCV000442089 CLINVAR
  RCV000443047 CLINVAR
  RCV000443122 CLINVAR
  RCV000574130 CLINVAR
  RCV000582350 CLINVAR
  RCV002524700 CLINVAR
dbSNP (RS) rs1057519747 CLINVAR
MedGen C0006118 CLINVAR
  C0009404 CLINVAR
  C0027672 CLINVAR
  C0085390 CLINVAR
  C0149925 CLINVAR
  C0151779 CLINVAR
  C0152013 CLINVAR
  C0152018 CLINVAR
  C0153574 CLINVAR
  C0206686 CLINVAR
  C0278701 CLINVAR
  C0279663 CLINVAR
  C0281361 CLINVAR
  C0677865 CLINVAR
  C1168401 CLINVAR
  C1458155 CLINVAR
  C2239176 CLINVAR
  CN169374 CLINVAR
NCBI Gene TP53 CLINVAR
OMIM 114550 CLINVAR
  182280 CLINVAR
  191170 CLINVAR
  275355 CLINVAR
SNOMED CT 126837005 CLINVAR
  126926005 CLINVAR
  126952004 CLINVAR
  25370001 CLINVAR
  428850001 CLINVAR
  699346009 CLINVAR
  716659002 CLINVAR
  93655004 CLINVAR