Canonical Allele Identifier: CA337802

Gene: TP53

Linked Data

• ClinVar Variation Id: 215996
• ClinVar RCV Id: RCV000198319 ; RCV000213216 ; RCV000785264 ; RCV001538204 ; RCV002288808
• dbSNP Id: rs375338359
• COSMIC: COSM45276 ; COSM437468
• MyVariant Identifiers: chr17:g.7574002C>G (hg19) ; chr17:g.7670684C>G (hg38)
• PubMed: PMID:8023157 ; PMID:9766574 ; PMID:16007150 ; PMID:19714490
• ERepo: CA337802/MONDO:0018875/009

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7670684C>G , CM000679.2:g.7670684C>G	GRCh38
NC_000017.10:g.7574002C>G , CM000679.1:g.7574002C>G	GRCh37
NC_000017.9:g.7514727C>G	NCBI36
NG_017013.2:g.21867G>C , LRG_321:g.21867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503591.2:c.1025G>C	ENSP00000426252.2:p.Arg342Pro
ENST00000508793.6:c.1025G>C	ENSP00000424104.2:p.Arg342Pro
ENST00000509690.6:c.629G>C	ENSP00000425104.2:p.Arg210Pro
ENST00000514944.6:c.746G>C	ENSP00000423862.2:p.Arg249Pro
ENST00000604348.6:c.1004G>C	ENSP00000473895.2:p.Arg335Pro
ENST00000269305.9:c.1025G>C MANE Select	ENSP00000269305.4:p.Arg342Pro
ENST00000269305.8:c.1025G>C	ENSP00000269305.4:p.Arg342Pro
ENST00000359597.8:c.993+2851G>C	ENSP00000352610.4:n.993+2851G>C
ENST00000413465.6:c.782+3497G>C	ENSP00000410739.2:n.782+3497G>C
ENST00000420246.6:c.*132G>C	ENSP00000391127.2:n.*132G>C
ENST00000445888.6:c.1025G>C	ENSP00000391478.2:p.Arg342Pro
ENST00000455263.6:c.*44G>C	ENSP00000398846.2:n.*44G>C
ENST00000504290.5:c.*44G>C	ENSP00000484409.1:n.*44G>C
ENST00000504937.5:c.629G>C	ENSP00000481179.1:p.Arg210Pro
ENST00000510385.5:c.*132G>C	ENSP00000478499.1:n.*132G>C
ENST00000576024.1:c.54-994G>C
ENST00000610292.4:c.908G>C	ENSP00000478219.1:p.Arg303Pro
ENST00000610538.4:c.*44G>C	ENSP00000480868.1:n.*44G>C
ENST00000610623.4:c.*44G>C	ENSP00000477531.1:n.*44G>C
ENST00000615910.4:c.992G>C	ENSP00000482903.1:p.Arg331Pro
ENST00000617185.4:c.*132G>C	ENSP00000482258.1:n.*132G>C
ENST00000618944.4:c.*132G>C	ENSP00000481401.1:n.*132G>C
ENST00000619186.4:c.548G>C	ENSP00000484375.1:p.Arg183Pro
ENST00000619485.4:c.908G>C	ENSP00000482537.1:p.Arg303Pro
ENST00000620739.4:c.908G>C	ENSP00000481638.1:p.Arg303Pro
ENST00000622645.4:c.*132G>C	ENSP00000482222.1:n.*132G>C
ENST00000635293.1:c.908G>C	ENSP00000488924.1:p.Arg303Pro
NM_000546.5:c.1025G>C , LRG_321t1:c.1025G>C	NP_000537.3:p.Arg342Pro
NM_001126112.2:c.1025G>C , LRG_321t2:c.1025G>C	NP_001119584.1:p.Arg342Pro
NM_001126113.2:c.*44G>C , LRG_321t4:c.*44G>C	NP_001119585.1:n.*44G>C
NM_001126114.2:c.*132G>C , LRG_321t3:c.*132G>C	NP_001119586.1:n.*132G>C
NM_001126115.1:c.629G>C , LRG_321t5:c.629G>C	NP_001119587.1:p.Arg210Pro
NM_001126116.1:c.*132G>C , LRG_321t6:c.*132G>C	NP_001119588.1:n.*132G>C
NM_001126117.1:c.*44G>C , LRG_321t7:c.*44G>C	NP_001119589.1:n.*44G>C
NM_001126118.1:c.908G>C , LRG_321t8:c.908G>C	NP_001119590.1:p.Arg303Pro
NM_001276695.1:c.*44G>C	NP_001263624.1:n.*44G>C
NM_001276696.1:c.*132G>C	NP_001263625.1:n.*132G>C
NM_001276697.1:c.548G>C	NP_001263626.1:p.Arg183Pro
NM_001276698.1:c.*132G>C	NP_001263627.1:n.*132G>C
NM_001276699.1:c.*44G>C	NP_001263628.1:n.*44G>C
NM_001276760.1:c.908G>C	NP_001263689.1:p.Arg303Pro
NM_001276761.1:c.908G>C	NP_001263690.1:p.Arg303Pro
NM_001276695.2:c.*44G>C	NP_001263624.1:n.*44G>C
NM_001276696.2:c.*132G>C	NP_001263625.1:n.*132G>C
NM_001276697.2:c.548G>C	NP_001263626.1:p.Arg183Pro
NM_001276698.2:c.*132G>C	NP_001263627.1:n.*132G>C
NM_001276699.2:c.*44G>C	NP_001263628.1:n.*44G>C
NM_001276760.2:c.908G>C	NP_001263689.1:p.Arg303Pro
NM_001276761.2:c.908G>C	NP_001263690.1:p.Arg303Pro
NM_000546.6:c.1025G>C MANE Select	NP_000537.3:p.Arg342Pro
NM_001126112.3:c.1025G>C	NP_001119584.1:p.Arg342Pro
NM_001126113.3:c.*44G>C	NP_001119585.1:n.*44G>C
NM_001126114.3:c.*132G>C	NP_001119586.1:n.*132G>C
NM_001126115.2:c.629G>C	NP_001119587.1:p.Arg210Pro
NM_001126116.2:c.*132G>C	NP_001119588.1:n.*132G>C
NM_001126117.2:c.*44G>C	NP_001119589.1:n.*44G>C
NM_001126118.2:c.908G>C	NP_001119590.1:p.Arg303Pro
NM_001276695.3:c.*44G>C	NP_001263624.1:n.*44G>C
NM_001276696.3:c.*132G>C	NP_001263625.1:n.*132G>C
NM_001276697.3:c.548G>C	NP_001263626.1:p.Arg183Pro
NM_001276698.3:c.*132G>C	NP_001263627.1:n.*132G>C
NM_001276699.3:c.*44G>C	NP_001263628.1:n.*44G>C
NM_001276760.3:c.908G>C	NP_001263689.1:p.Arg303Pro
NM_001276761.3:c.908G>C	NP_001263690.1:p.Arg303Pro