Canonical Allele Identifier: CA000072

Gene: TP53

Linked Data

• ClinVar Variation Id: 12351
• ClinVar RCV Id: RCV000013144 ; RCV000034639 ; RCV000079202 ; RCV000132165 ; RCV000144668 ; RCV000300782 ; RCV001255631 ; RCV002225263 ; RCV002496335 ; RCV002510562
• dbSNP Id: rs1042522
• ExAC: 17:7579472 G / C
• gnomAD v2: 17-7579472-G-C
• gnomAD v3: 17-7676154-G-C
• gnomAD v4: 17-7676154-G-C
• MyVariant Identifiers: chr17:g.7579472G>C (hg19) ; chr17:g.7676154G>C (hg38)
• CIViC: CA000072
• PubMed: PMID:1975675 ; PMID:1999338 ; PMID:8242752 ; PMID:9607760 ; PMID:9891044 ; PMID:10802655 ; PMID:11403041 ; PMID:12567188 ; PMID:15355915 ; PMID:16199549 ; PMID:16258005 ; PMID:16964264 ; PMID:17535973 ; PMID:17599946 ; PMID:17638920 ; PMID:18357466 ; PMID:19052714 ; PMID:19521721 ; PMID:19786980 ; PMID:20520810 ; PMID:20638924 ; PMID:21619694 ; PMID:21672450 ; PMID:22188361 ; PMID:22703879 ; PMID:22729912 ; PMID:22744426 ; PMID:22992668 ; PMID:23624782 ; PMID:23887774 ; PMID:24728327 ; PMID:26696550

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7676154G>C , CM000679.2:g.7676154G>C	GRCh38
NC_000017.10:g.7579472G>C , CM000679.1:g.7579472G>C	GRCh37
NC_000017.9:g.7520197G>C	NCBI36
NG_017013.2:g.16397C>G , LRG_321:g.16397C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000503591.2:c.215C>G	ENSP00000426252.2:p.Pro72Arg
ENST00000508793.6:c.215C>G	ENSP00000424104.2:p.Pro72Arg
ENST00000509690.6:c.-21-918C>G	ENSP00000425104.2:n.-21-918C>G
ENST00000514944.6:c.96+228C>G	ENSP00000423862.2:n.96+228C>G
ENST00000604348.6:c.215C>G	ENSP00000473895.2:p.Pro72Arg
ENST00000269305.9:c.215C>G MANE Select	ENSP00000269305.4:p.Pro72Arg
ENST00000269305.8:c.215C>G	ENSP00000269305.4:p.Pro72Arg
ENST00000359597.8:c.215C>G	ENSP00000352610.4:p.Pro72Arg
ENST00000413465.6:c.215C>G	ENSP00000410739.2:p.Pro72Arg
ENST00000420246.6:c.215C>G	ENSP00000391127.2:p.Pro72Arg
ENST00000445888.6:c.215C>G	ENSP00000391478.2:p.Pro72Arg
ENST00000455263.6:c.215C>G	ENSP00000398846.2:p.Pro72Arg
ENST00000503591.1:c.215C>G	ENSP00000426252.1:p.Pro72Arg
ENST00000505014.5:n.471C>G
ENST00000508793.5:c.215C>G	ENSP00000424104.1:p.Pro72Arg
ENST00000509690.5:c.-21-918C>G	ENSP00000425104.1:n.-21-918C>G
ENST00000514944.5:c.96+228C>G	ENSP00000423862.1:n.96+228C>G
ENST00000604348.5:c.215C>G	ENSP00000473895.1:p.Pro72Arg
ENST00000610292.4:c.98C>G	ENSP00000478219.1:p.Pro33Arg
ENST00000610538.4:c.98C>G	ENSP00000480868.1:p.Pro33Arg
ENST00000615910.4:c.215C>G	ENSP00000482903.1:p.Pro72Arg
ENST00000617185.4:c.215C>G	ENSP00000482258.1:p.Pro72Arg
ENST00000619485.4:c.98C>G	ENSP00000482537.1:p.Pro33Arg
ENST00000620739.4:c.98C>G	ENSP00000481638.1:p.Pro33Arg
ENST00000622645.4:c.98C>G	ENSP00000482222.1:p.Pro33Arg
ENST00000635293.1:c.98C>G	ENSP00000488924.1:p.Pro33Arg
NM_000546.5:c.215C>G , LRG_321t1:c.215C>G	NP_000537.3:p.Pro72Arg
NM_001126112.2:c.215C>G , LRG_321t2:c.215C>G	NP_001119584.1:p.Pro72Arg
NM_001126113.2:c.215C>G , LRG_321t4:c.215C>G	NP_001119585.1:p.Pro72Arg
NM_001126114.2:c.215C>G , LRG_321t3:c.215C>G	NP_001119586.1:p.Pro72Arg
NM_001126118.1:c.98C>G , LRG_321t8:c.98C>G	NP_001119590.1:p.Pro33Arg
NM_001276695.1:c.98C>G	NP_001263624.1:p.Pro33Arg
NM_001276696.1:c.98C>G	NP_001263625.1:p.Pro33Arg
NM_001276760.1:c.98C>G	NP_001263689.1:p.Pro33Arg
NM_001276761.1:c.98C>G	NP_001263690.1:p.Pro33Arg
NM_001276695.2:c.98C>G	NP_001263624.1:p.Pro33Arg
NM_001276696.2:c.98C>G	NP_001263625.1:p.Pro33Arg
NM_001276760.2:c.98C>G	NP_001263689.1:p.Pro33Arg
NM_001276761.2:c.98C>G	NP_001263690.1:p.Pro33Arg
NM_000546.6:c.215C>G MANE Select	NP_000537.3:p.Pro72Arg
NM_001126112.3:c.215C>G	NP_001119584.1:p.Pro72Arg
NM_001126113.3:c.215C>G	NP_001119585.1:p.Pro72Arg
NM_001126114.3:c.215C>G	NP_001119586.1:p.Pro72Arg
NM_001126118.2:c.98C>G	NP_001119590.1:p.Pro33Arg
NM_001276695.3:c.98C>G	NP_001263624.1:p.Pro33Arg
NM_001276696.3:c.98C>G	NP_001263625.1:p.Pro33Arg
NM_001276760.3:c.98C>G	NP_001263689.1:p.Pro33Arg
NM_001276761.3:c.98C>G	NP_001263690.1:p.Pro33Arg