rs121912656 Rat Genome Database

rs121912656 Rat Genome Database

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Variant: rs121912656 - Homo sapiens

RGD ID:

12835051

RS ID:

rs121912656

ClinVar ID:

CV363482

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TP53

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	17	7,577,547
GRCh38	17	7,674,229

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NM_001276697.3:c.257G>T NM_001276698.3:c.257G>T NM_001126118.2:c.617G>T NM_001276695.3:c.617G>T More...	06/18/2022	missense variant	pathogenic\|likely pathogenic	all ages	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.	Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Sarcoma family syndrome of Li and Fraumeni; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV363482	Human	Hereditary Adrenocortical Carcinoma		IAGP		8554872	ClinVar Annotator: match by term: Adrenocortical carcinoma and hereditary	ClinVar	PMID:11180592 more ...
CV363482	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:11180592 more ...
CV363482	Human	Li-Fraumeni syndrome		IAGP		8554872	ClinVar Annotator: match by term: Li-Fraumeni syndrome	ClinVar	PMID:11180592 more ...
CV363482	Human	Li-Fraumeni syndrome 1		IAGP		8554872	ClinVar Annotator: match by term: Li-Fraumeni syndrome 1	ClinVar	PMID:11180592 more ...

Gene Symbol:	TP53
Accession:	NM_001276761
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126117
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001126113
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001276699
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	86

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN SSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK KKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001407270
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407271
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001126112
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001276696
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001276695
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001407263
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_000546
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001276697
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	86

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN SSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK KKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407265
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407264
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407268
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407267
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126114
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001276698
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	86

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN SSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK KKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407269
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407266
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126118
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126115
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSK KGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001276760
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407262
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126116
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGVMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

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

ClinVar GRCh37	ClinVar GRCh38

PMID:1565143	PMID:2259385	PMID:11180592	PMID:11593407	PMID:11920788	PMID:12826609	PMID:17311302	PMID:17606709	PMID:18628487	PMID:20128691	PMID:21343334	PMID:24122735
PMID:25119136	PMID:25741868	PMID:28492532	PMID:29979965	PMID:30224644	PMID:30720243

Database	Acc Id	Source(s)
ClinVar	RCV000558455	CLINVAR
	RCV001026313	CLINVAR
	RCV001548147	CLINVAR
	RCV002289525	CLINVAR
	RCV003476008	CLINVAR
dbSNP (RS)	rs121912656	CLINVAR
MedGen	C0027672	CLINVAR
	C0085390	CLINVAR
	C1835398	CLINVAR
	C1859972	CLINVAR
	C3661900	CLINVAR
NCBI Gene	TP53	CLINVAR
OMIM	151623	CLINVAR
	191170	CLINVAR
	202300	CLINVAR
SNOMED CT	428850001	CLINVAR
	699346009	CLINVAR