Canonical Allele Identifier: CA2499224956

Gene: TP53

Linked Data

• ClinVar Variation Id: 1066203
• ClinVar RCV Id: RCV001377138
• dbSNP Id: rs2151010859

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7673536_7673594dup , CM000679.2:g.7673536_7673594dup	GRCh38
NC_000017.10:g.7576854_7576912dup , CM000679.1:g.7576854_7576912dup	GRCh37
NC_000017.9:g.7517579_7517637dup	NCBI36
NG_017013.2:g.18957_19015dup , LRG_321:g.18957_19015dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000503591.2:c.934_992dup	ENSP00000426252.2:p.Ile332ProfsTer33
ENST00000508793.6:c.934_992dup	ENSP00000424104.2:p.Ile332ProfsTer33
ENST00000509690.6:c.538_596dup	ENSP00000425104.2:p.Ile200ProfsTer33
ENST00000514944.6:c.655_713dup	ENSP00000423862.2:p.Ile239ProfsTer33
ENST00000604348.6:c.913_971dup	ENSP00000473895.2:p.Ile325ProfsTer33
ENST00000269305.9:c.934_992dup MANE Select	ENSP00000269305.4:p.Ile332ProfsTer33
ENST00000269305.8:c.934_992dup	ENSP00000269305.4:p.Ile332ProfsTer33
ENST00000359597.8:c.934_992dup	ENSP00000352610.4:p.Lys332ProfsTer40
ENST00000413465.6:c.782+587_782+645dup	ENSP00000410739.2:n.782+587_782+645dup
ENST00000420246.6:c.934_992dup	ENSP00000391127.2:p.Asp332ProfsTer39
ENST00000445888.6:c.934_992dup	ENSP00000391478.2:p.Ile332ProfsTer33
ENST00000455263.6:c.934_992dup	ENSP00000398846.2:p.Met332ProfsTer31
ENST00000504290.5:c.538_596dup	ENSP00000484409.1:p.Met200ProfsTer31
ENST00000504937.5:c.538_596dup	ENSP00000481179.1:p.Ile200ProfsTer33
ENST00000509690.5:c.538_596dup	ENSP00000425104.1:p.Gln199=
ENST00000510385.5:c.538_596dup	ENSP00000478499.1:p.Asp200ProfsTer39
ENST00000610292.4:c.817_875dup	ENSP00000478219.1:p.Ile293ProfsTer33
ENST00000610538.4:c.817_875dup	ENSP00000480868.1:p.Met293ProfsTer31
ENST00000610623.4:c.457_515dup	ENSP00000477531.1:p.Met173ProfsTer31
ENST00000615910.4:c.901_959dup	ENSP00000482903.1:p.Ile321ProfsTer33
ENST00000617185.4:c.934_992dup	ENSP00000482258.1:p.Asp332ProfsTer39
ENST00000618944.4:c.457_515dup	ENSP00000481401.1:p.Asp173ProfsTer39
ENST00000619186.4:c.457_515dup	ENSP00000484375.1:p.Ile173ProfsTer33
ENST00000619485.4:c.817_875dup	ENSP00000482537.1:p.Ile293ProfsTer33
ENST00000620739.4:c.817_875dup	ENSP00000481638.1:p.Ile293ProfsTer33
ENST00000622645.4:c.817_875dup	ENSP00000482222.1:p.Asp293ProfsTer39
ENST00000635293.1:c.817_875dup	ENSP00000488924.1:p.Ile293ProfsTer33
NM_000546.5:c.934_992dup , LRG_321t1:c.934_992dup	NP_000537.3:p.Ile332ProfsTer33
NM_001126112.2:c.934_992dup , LRG_321t2:c.934_992dup	NP_001119584.1:p.Ile332ProfsTer33
NM_001126113.2:c.934_992dup , LRG_321t4:c.934_992dup	NP_001119585.1:p.Met332ProfsTer31
NM_001126114.2:c.934_992dup , LRG_321t3:c.934_992dup	NP_001119586.1:p.Asp332ProfsTer39
NM_001126115.1:c.538_596dup , LRG_321t5:c.538_596dup	NP_001119587.1:p.Ile200ProfsTer33
NM_001126116.1:c.538_596dup , LRG_321t6:c.538_596dup	NP_001119588.1:p.Asp200ProfsTer39
NM_001126117.1:c.538_596dup , LRG_321t7:c.538_596dup	NP_001119589.1:p.Met200ProfsTer31
NM_001126118.1:c.817_875dup , LRG_321t8:c.817_875dup	NP_001119590.1:p.Ile293ProfsTer33
NM_001276695.1:c.817_875dup	NP_001263624.1:p.Met293ProfsTer31
NM_001276696.1:c.817_875dup	NP_001263625.1:p.Asp293ProfsTer39
NM_001276697.1:c.457_515dup	NP_001263626.1:p.Ile173ProfsTer33
NM_001276698.1:c.457_515dup	NP_001263627.1:p.Asp173ProfsTer39
NM_001276699.1:c.457_515dup	NP_001263628.1:p.Met173ProfsTer31
NM_001276760.1:c.817_875dup	NP_001263689.1:p.Ile293ProfsTer33
NM_001276761.1:c.817_875dup	NP_001263690.1:p.Ile293ProfsTer33
NM_001276695.2:c.817_875dup	NP_001263624.1:p.Met293ProfsTer31
NM_001276696.2:c.817_875dup	NP_001263625.1:p.Asp293ProfsTer39
NM_001276697.2:c.457_515dup	NP_001263626.1:p.Ile173ProfsTer33
NM_001276698.2:c.457_515dup	NP_001263627.1:p.Asp173ProfsTer39
NM_001276699.2:c.457_515dup	NP_001263628.1:p.Met173ProfsTer31
NM_001276760.2:c.817_875dup	NP_001263689.1:p.Ile293ProfsTer33
NM_001276761.2:c.817_875dup	NP_001263690.1:p.Ile293ProfsTer33
NM_000546.6:c.934_992dup MANE Select	NP_000537.3:p.Ile332ProfsTer33
NM_001126112.3:c.934_992dup	NP_001119584.1:p.Ile332ProfsTer33
NM_001126113.3:c.934_992dup	NP_001119585.1:p.Met332ProfsTer31
NM_001126114.3:c.934_992dup	NP_001119586.1:p.Asp332ProfsTer39
NM_001126115.2:c.538_596dup	NP_001119587.1:p.Ile200ProfsTer33
NM_001126116.2:c.538_596dup	NP_001119588.1:p.Asp200ProfsTer39
NM_001126117.2:c.538_596dup	NP_001119589.1:p.Met200ProfsTer31
NM_001126118.2:c.817_875dup	NP_001119590.1:p.Ile293ProfsTer33
NM_001276695.3:c.817_875dup	NP_001263624.1:p.Met293ProfsTer31
NM_001276696.3:c.817_875dup	NP_001263625.1:p.Asp293ProfsTer39
NM_001276697.3:c.457_515dup	NP_001263626.1:p.Ile173ProfsTer33
NM_001276698.3:c.457_515dup	NP_001263627.1:p.Asp173ProfsTer39
NM_001276699.3:c.457_515dup	NP_001263628.1:p.Met173ProfsTer31
NM_001276760.3:c.817_875dup	NP_001263689.1:p.Ile293ProfsTer33
NM_001276761.3:c.817_875dup	NP_001263690.1:p.Ile293ProfsTer33