Canonical Allele Identifier: CA000387
Gene: TP53 HGNC NCBI

Linked Data

ClinVar Variation Id: 12356
dbSNP Id: rs11540652
gnomAD v2: 17-7577538-C-T
gnomAD v3: 17-7674220-C-T
gnomAD v4: 17-7674220-C-T
CIViC: CA000387

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7674220C>T , CM000679.2:g.7674220C>T GRCh38
NC_000017.10:g.7577538C>T , CM000679.1:g.7577538C>T GRCh37
NC_000017.9:g.7518263C>T NCBI36
NG_017013.2:g.18331G>A , LRG_321:g.18331G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000503591.2:c.743G>A ENSP00000426252.2:p.Arg248Gln
ENST00000508793.6:c.743G>A ENSP00000424104.2:p.Arg248Gln
ENST00000509690.6:c.347G>A ENSP00000425104.2:p.Arg116Gln
ENST00000514944.6:c.464G>A ENSP00000423862.2:p.Arg155Gln
ENST00000604348.6:c.722G>A ENSP00000473895.2:p.Arg241Gln
ENST00000269305.9:c.743G>A MANE Select ENSP00000269305.4:p.Arg248Gln
ENST00000269305.8:c.743G>A ENSP00000269305.4:p.Arg248Gln
ENST00000359597.8:c.743G>A ENSP00000352610.4:p.Arg248Gln
ENST00000413465.6:c.743G>A ENSP00000410739.2:p.Arg248Gln
ENST00000420246.6:c.743G>A ENSP00000391127.2:p.Arg248Gln
ENST00000445888.6:c.743G>A ENSP00000391478.2:p.Arg248Gln
ENST00000455263.6:c.743G>A ENSP00000398846.2:p.Arg248Gln
ENST00000504290.5:c.347G>A ENSP00000484409.1:p.Arg116Gln
ENST00000504937.5:c.347G>A ENSP00000481179.1:p.Arg116Gln
ENST00000509690.5:c.347G>A ENSP00000425104.1:p.Arg116Gln
ENST00000510385.5:c.347G>A ENSP00000478499.1:p.Arg116Gln
ENST00000514944.5:c.464G>A ENSP00000423862.1:p.Arg155Gln
ENST00000610292.4:c.626G>A ENSP00000478219.1:p.Arg209Gln
ENST00000610538.4:c.626G>A ENSP00000480868.1:p.Arg209Gln
ENST00000610623.4:c.266G>A ENSP00000477531.1:p.Arg89Gln
ENST00000615910.4:c.710G>A ENSP00000482903.1:p.Arg237Gln
ENST00000617185.4:c.743G>A ENSP00000482258.1:p.Arg248Gln
ENST00000618944.4:c.266G>A ENSP00000481401.1:p.Arg89Gln
ENST00000619186.4:c.266G>A ENSP00000484375.1:p.Arg89Gln
ENST00000619485.4:c.626G>A ENSP00000482537.1:p.Arg209Gln
ENST00000620739.4:c.626G>A ENSP00000481638.1:p.Arg209Gln
ENST00000622645.4:c.626G>A ENSP00000482222.1:p.Arg209Gln
ENST00000635293.1:c.626G>A ENSP00000488924.1:p.Arg209Gln
NM_000546.5:c.743G>A , LRG_321t1:c.743G>A NP_000537.3:p.Arg248Gln
NM_001126112.2:c.743G>A , LRG_321t2:c.743G>A NP_001119584.1:p.Arg248Gln
NM_001126113.2:c.743G>A , LRG_321t4:c.743G>A NP_001119585.1:p.Arg248Gln
NM_001126114.2:c.743G>A , LRG_321t3:c.743G>A NP_001119586.1:p.Arg248Gln
NM_001126115.1:c.347G>A , LRG_321t5:c.347G>A NP_001119587.1:p.Arg116Gln
NM_001126116.1:c.347G>A , LRG_321t6:c.347G>A NP_001119588.1:p.Arg116Gln
NM_001126117.1:c.347G>A , LRG_321t7:c.347G>A NP_001119589.1:p.Arg116Gln
NM_001126118.1:c.626G>A , LRG_321t8:c.626G>A NP_001119590.1:p.Arg209Gln
NM_001276695.1:c.626G>A NP_001263624.1:p.Arg209Gln
NM_001276696.1:c.626G>A NP_001263625.1:p.Arg209Gln
NM_001276697.1:c.266G>A NP_001263626.1:p.Arg89Gln
NM_001276698.1:c.266G>A NP_001263627.1:p.Arg89Gln
NM_001276699.1:c.266G>A NP_001263628.1:p.Arg89Gln
NM_001276760.1:c.626G>A NP_001263689.1:p.Arg209Gln
NM_001276761.1:c.626G>A NP_001263690.1:p.Arg209Gln
NM_001276695.2:c.626G>A NP_001263624.1:p.Arg209Gln
NM_001276696.2:c.626G>A NP_001263625.1:p.Arg209Gln
NM_001276697.2:c.266G>A NP_001263626.1:p.Arg89Gln
NM_001276698.2:c.266G>A NP_001263627.1:p.Arg89Gln
NM_001276699.2:c.266G>A NP_001263628.1:p.Arg89Gln
NM_001276760.2:c.626G>A NP_001263689.1:p.Arg209Gln
NM_001276761.2:c.626G>A NP_001263690.1:p.Arg209Gln
NM_000546.6:c.743G>A MANE Select NP_000537.3:p.Arg248Gln
NM_001126112.3:c.743G>A NP_001119584.1:p.Arg248Gln
NM_001126113.3:c.743G>A NP_001119585.1:p.Arg248Gln
NM_001126114.3:c.743G>A NP_001119586.1:p.Arg248Gln
NM_001126115.2:c.347G>A NP_001119587.1:p.Arg116Gln
NM_001126116.2:c.347G>A NP_001119588.1:p.Arg116Gln
NM_001126117.2:c.347G>A NP_001119589.1:p.Arg116Gln
NM_001126118.2:c.626G>A NP_001119590.1:p.Arg209Gln
NM_001276695.3:c.626G>A NP_001263624.1:p.Arg209Gln
NM_001276696.3:c.626G>A NP_001263625.1:p.Arg209Gln
NM_001276697.3:c.266G>A NP_001263626.1:p.Arg89Gln
NM_001276698.3:c.266G>A NP_001263627.1:p.Arg89Gln
NM_001276699.3:c.266G>A NP_001263628.1:p.Arg89Gln
NM_001276760.3:c.626G>A NP_001263689.1:p.Arg209Gln
NM_001276761.3:c.626G>A NP_001263690.1:p.Arg209Gln