Canonical Allele Identifier: CA397831839

Gene: TP53

Linked Data

• ClinVar Variation Id: 1414768
• ClinVar RCV Id: RCV001930638
• dbSNP Id: rs2072906212
• gnomAD v4: 17-7670619-C-T
• COSMIC: COSM46361
• MyVariant Identifiers: chr17:g.7573937C>T (hg19) ; chr17:g.7670619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7670619C>T , CM000679.2:g.7670619C>T	GRCh38
NC_000017.10:g.7573937C>T , CM000679.1:g.7573937C>T	GRCh37
NC_000017.9:g.7514662C>T	NCBI36
NG_017013.2:g.21932G>A , LRG_321:g.21932G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000503591.2:c.1090G>A	ENSP00000426252.2:p.Ala364Thr
ENST00000508793.6:c.1090G>A	ENSP00000424104.2:p.Ala364Thr
ENST00000509690.6:c.694G>A	ENSP00000425104.2:p.Ala232Thr
ENST00000514944.6:c.811G>A	ENSP00000423862.2:p.Ala271Thr
ENST00000604348.6:c.1069G>A	ENSP00000473895.2:p.Ala357Thr
ENST00000269305.9:c.1090G>A MANE Select	ENSP00000269305.4:p.Ala364Thr
ENST00000269305.8:c.1090G>A	ENSP00000269305.4:p.Ala364Thr
ENST00000359597.8:c.993+2916G>A	ENSP00000352610.4:n.993+2916G>A
ENST00000413465.6:c.782+3562G>A	ENSP00000410739.2:n.782+3562G>A
ENST00000420246.6:c.*197G>A	ENSP00000391127.2:n.*197G>A
ENST00000445888.6:c.1090G>A	ENSP00000391478.2:p.Ala364Thr
ENST00000455263.6:c.*109G>A	ENSP00000398846.2:n.*109G>A
ENST00000504290.5:c.*109G>A	ENSP00000484409.1:n.*109G>A
ENST00000504937.5:c.694G>A	ENSP00000481179.1:p.Ala232Thr
ENST00000510385.5:c.*197G>A	ENSP00000478499.1:n.*197G>A
ENST00000576024.1:c.54-929G>A
ENST00000610292.4:c.973G>A	ENSP00000478219.1:p.Ala325Thr
ENST00000610538.4:c.*109G>A	ENSP00000480868.1:n.*109G>A
ENST00000610623.4:c.*109G>A	ENSP00000477531.1:n.*109G>A
ENST00000615910.4:c.1057G>A	ENSP00000482903.1:p.Ala353Thr
ENST00000617185.4:c.*197G>A	ENSP00000482258.1:n.*197G>A
ENST00000618944.4:c.*197G>A	ENSP00000481401.1:n.*197G>A
ENST00000619186.4:c.613G>A	ENSP00000484375.1:p.Ala205Thr
ENST00000619485.4:c.973G>A	ENSP00000482537.1:p.Ala325Thr
ENST00000620739.4:c.973G>A	ENSP00000481638.1:p.Ala325Thr
ENST00000622645.4:c.*197G>A	ENSP00000482222.1:n.*197G>A
ENST00000635293.1:c.973G>A	ENSP00000488924.1:p.Ala325Thr
NM_000546.5:c.1090G>A , LRG_321t1:c.1090G>A	NP_000537.3:p.Ala364Thr
NM_001126112.2:c.1090G>A , LRG_321t2:c.1090G>A	NP_001119584.1:p.Ala364Thr
NM_001126113.2:c.*109G>A , LRG_321t4:c.*109G>A	NP_001119585.1:n.*109G>A
NM_001126114.2:c.*197G>A , LRG_321t3:c.*197G>A	NP_001119586.1:n.*197G>A
NM_001126115.1:c.694G>A , LRG_321t5:c.694G>A	NP_001119587.1:p.Ala232Thr
NM_001126116.1:c.*197G>A , LRG_321t6:c.*197G>A	NP_001119588.1:n.*197G>A
NM_001126117.1:c.*109G>A , LRG_321t7:c.*109G>A	NP_001119589.1:n.*109G>A
NM_001126118.1:c.973G>A , LRG_321t8:c.973G>A	NP_001119590.1:p.Ala325Thr
NM_001276695.1:c.*109G>A	NP_001263624.1:n.*109G>A
NM_001276696.1:c.*197G>A	NP_001263625.1:n.*197G>A
NM_001276697.1:c.613G>A	NP_001263626.1:p.Ala205Thr
NM_001276698.1:c.*197G>A	NP_001263627.1:n.*197G>A
NM_001276699.1:c.*109G>A	NP_001263628.1:n.*109G>A
NM_001276760.1:c.973G>A	NP_001263689.1:p.Ala325Thr
NM_001276761.1:c.973G>A	NP_001263690.1:p.Ala325Thr
NM_001276695.2:c.*109G>A	NP_001263624.1:n.*109G>A
NM_001276696.2:c.*197G>A	NP_001263625.1:n.*197G>A
NM_001276697.2:c.613G>A	NP_001263626.1:p.Ala205Thr
NM_001276698.2:c.*197G>A	NP_001263627.1:n.*197G>A
NM_001276699.2:c.*109G>A	NP_001263628.1:n.*109G>A
NM_001276760.2:c.973G>A	NP_001263689.1:p.Ala325Thr
NM_001276761.2:c.973G>A	NP_001263690.1:p.Ala325Thr
NM_000546.6:c.1090G>A MANE Select	NP_000537.3:p.Ala364Thr
NM_001126112.3:c.1090G>A	NP_001119584.1:p.Ala364Thr
NM_001126113.3:c.*109G>A	NP_001119585.1:n.*109G>A
NM_001126114.3:c.*197G>A	NP_001119586.1:n.*197G>A
NM_001126115.2:c.694G>A	NP_001119587.1:p.Ala232Thr
NM_001126116.2:c.*197G>A	NP_001119588.1:n.*197G>A
NM_001126117.2:c.*109G>A	NP_001119589.1:n.*109G>A
NM_001126118.2:c.973G>A	NP_001119590.1:p.Ala325Thr
NM_001276695.3:c.*109G>A	NP_001263624.1:n.*109G>A
NM_001276696.3:c.*197G>A	NP_001263625.1:n.*197G>A
NM_001276697.3:c.613G>A	NP_001263626.1:p.Ala205Thr
NM_001276698.3:c.*197G>A	NP_001263627.1:n.*197G>A
NM_001276699.3:c.*109G>A	NP_001263628.1:n.*109G>A
NM_001276760.3:c.973G>A	NP_001263689.1:p.Ala325Thr
NM_001276761.3:c.973G>A	NP_001263690.1:p.Ala325Thr