Canonical Allele Identifier: CA000083
Gene: TP53 HGNC NCBI

Linked Data

ClinVar Variation Id: 127805
dbSNP Id: rs201717599
gnomAD v2: 17-7579439-G-A
gnomAD v3: 17-7676121-G-A
gnomAD v4: 17-7676121-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7676121G>A , CM000679.2:g.7676121G>A GRCh38
NC_000017.10:g.7579439G>A , CM000679.1:g.7579439G>A GRCh37
NC_000017.9:g.7520164G>A NCBI36
NG_017013.2:g.16430C>T , LRG_321:g.16430C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000503591.2:c.248C>T ENSP00000426252.2:p.Ala83Val
ENST00000508793.6:c.248C>T ENSP00000424104.2:p.Ala83Val
ENST00000509690.6:c.-21-885C>T ENSP00000425104.2:n.-21-885C>T
ENST00000514944.6:c.96+261C>T ENSP00000423862.2:n.96+261C>T
ENST00000604348.6:c.248C>T ENSP00000473895.2:p.Ala83Val
ENST00000269305.9:c.248C>T MANE Select ENSP00000269305.4:p.Ala83Val
ENST00000269305.8:c.248C>T ENSP00000269305.4:p.Ala83Val
ENST00000359597.8:c.248C>T ENSP00000352610.4:p.Ala83Val
ENST00000413465.6:c.248C>T ENSP00000410739.2:p.Ala83Val
ENST00000420246.6:c.248C>T ENSP00000391127.2:p.Ala83Val
ENST00000445888.6:c.248C>T ENSP00000391478.2:p.Ala83Val
ENST00000455263.6:c.248C>T ENSP00000398846.2:p.Ala83Val
ENST00000503591.1:c.248C>T ENSP00000426252.1:p.Ala83Val
ENST00000505014.5:n.504C>T
ENST00000508793.5:c.248C>T ENSP00000424104.1:p.Ala83Val
ENST00000509690.5:c.-21-885C>T ENSP00000425104.1:n.-21-885C>T
ENST00000514944.5:c.96+261C>T ENSP00000423862.1:n.96+261C>T
ENST00000604348.5:c.248C>T ENSP00000473895.1:p.Ala83Val
ENST00000610292.4:c.131C>T ENSP00000478219.1:p.Ala44Val
ENST00000610538.4:c.131C>T ENSP00000480868.1:p.Ala44Val
ENST00000615910.4:c.248C>T ENSP00000482903.1:p.Ala83Val
ENST00000617185.4:c.248C>T ENSP00000482258.1:p.Ala83Val
ENST00000619485.4:c.131C>T ENSP00000482537.1:p.Ala44Val
ENST00000620739.4:c.131C>T ENSP00000481638.1:p.Ala44Val
ENST00000622645.4:c.131C>T ENSP00000482222.1:p.Ala44Val
ENST00000635293.1:c.131C>T ENSP00000488924.1:p.Ala44Val
NM_000546.5:c.248C>T , LRG_321t1:c.248C>T NP_000537.3:p.Ala83Val
NM_001126112.2:c.248C>T , LRG_321t2:c.248C>T NP_001119584.1:p.Ala83Val
NM_001126113.2:c.248C>T , LRG_321t4:c.248C>T NP_001119585.1:p.Ala83Val
NM_001126114.2:c.248C>T , LRG_321t3:c.248C>T NP_001119586.1:p.Ala83Val
NM_001126118.1:c.131C>T , LRG_321t8:c.131C>T NP_001119590.1:p.Ala44Val
NM_001276695.1:c.131C>T NP_001263624.1:p.Ala44Val
NM_001276696.1:c.131C>T NP_001263625.1:p.Ala44Val
NM_001276760.1:c.131C>T NP_001263689.1:p.Ala44Val
NM_001276761.1:c.131C>T NP_001263690.1:p.Ala44Val
NM_001276695.2:c.131C>T NP_001263624.1:p.Ala44Val
NM_001276696.2:c.131C>T NP_001263625.1:p.Ala44Val
NM_001276760.2:c.131C>T NP_001263689.1:p.Ala44Val
NM_001276761.2:c.131C>T NP_001263690.1:p.Ala44Val
NM_000546.6:c.248C>T MANE Select NP_000537.3:p.Ala83Val
NM_001126112.3:c.248C>T NP_001119584.1:p.Ala83Val
NM_001126113.3:c.248C>T NP_001119585.1:p.Ala83Val
NM_001126114.3:c.248C>T NP_001119586.1:p.Ala83Val
NM_001126118.2:c.131C>T NP_001119590.1:p.Ala44Val
NM_001276695.3:c.131C>T NP_001263624.1:p.Ala44Val
NM_001276696.3:c.131C>T NP_001263625.1:p.Ala44Val
NM_001276760.3:c.131C>T NP_001263689.1:p.Ala44Val
NM_001276761.3:c.131C>T NP_001263690.1:p.Ala44Val