Canonical Allele Identifier: CA2752222

Gene: TP63

Linked Data

• ClinVar Variation Id: 2654352
• ClinVar RCV Id: RCV003434833
• dbSNP Id: rs757669482
• ExAC: 3:189582111 G / A
• gnomAD v2: 3-189582111-G-A
• gnomAD v4: 3-189864322-G-A
• MyVariant Identifiers: chr3:g.189582111G>A (hg19) ; chr3:g.189864322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189864322G>A , CM000665.2:g.189864322G>A	GRCh38
NC_000003.11:g.189582111G>A , CM000665.1:g.189582111G>A	GRCh37
NC_000003.10:g.191064805G>A	NCBI36
NG_007550.1:g.237896G>A
NG_007550.2:g.237896G>A
NG_007550.3:g.272577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.670G>A MANE Select	ENSP00000264731.3:p.Val224Ile
ENST00000354600.10:c.388G>A MANE Plus Clinical	ENSP00000346614.5:p.Val130Ile
ENST00000264731.7:c.670G>A	ENSP00000264731.3:p.Val224Ile
ENST00000320472.9:c.670G>A	ENSP00000317510.5:p.Val224Ile
ENST00000354600.9:c.388G>A	ENSP00000346614.5:p.Val130Ile
ENST00000392460.7:c.670G>A	ENSP00000376253.3:p.Val224Ile
ENST00000392461.7:c.388G>A	ENSP00000376254.3:p.Val130Ile
ENST00000392463.6:c.388G>A	ENSP00000376256.2:p.Val130Ile
ENST00000418709.6:c.670G>A	ENSP00000407144.2:p.Val224Ile
ENST00000437221.5:c.388G>A	ENSP00000392488.1:p.Val130Ile
ENST00000440651.6:c.670G>A	ENSP00000394337.2:p.Val224Ile
ENST00000449992.5:c.133G>A	ENSP00000387839.1:p.Val45Ile
ENST00000456148.1:c.388G>A	ENSP00000389485.1:p.Val130Ile
ENST00000460036.1:n.494G>A
NM_001114978.1:c.670G>A	NP_001108450.1:p.Val224Ile
NM_001114979.1:c.670G>A	NP_001108451.1:p.Val224Ile
NM_001114980.1:c.388G>A	NP_001108452.1:p.Val130Ile
NM_001114981.1:c.388G>A	NP_001108453.1:p.Val130Ile
NM_001114982.1:c.388G>A	NP_001108454.1:p.Val130Ile
NM_003722.4:c.670G>A	NP_003713.3:p.Val224Ile
XM_005247843.2:c.670G>A	XP_005247900.1:p.Val224Ile
XM_005247844.3:c.619G>A	XP_005247901.1:p.Val207Ile
XM_005247846.2:c.670G>A	XP_005247903.1:p.Val224Ile
XM_011513251.1:c.667G>A	XP_011511553.1:p.Val223Ile
XM_011513252.1:c.664G>A	XP_011511554.1:p.Val222Ile
XM_011513253.1:c.631G>A	XP_011511555.1:p.Val211Ile
NM_001329144.1:c.670G>A	NP_001316073.1:p.Val224Ile
NM_001329145.1:c.388G>A	NP_001316074.1:p.Val130Ile
NM_001329146.1:c.133G>A	NP_001316075.1:p.Val45Ile
NM_001329148.1:c.670G>A	NP_001316077.1:p.Val224Ile
NM_001329149.1:c.388G>A	NP_001316078.1:p.Val130Ile
NM_001329150.1:c.133G>A	NP_001316079.1:p.Val45Ile
NM_001329964.1:c.664G>A	NP_001316893.1:p.Val222Ile
NM_003722.5:c.670G>A MANE Select	NP_003713.3:p.Val224Ile
NM_001114978.2:c.670G>A	NP_001108450.1:p.Val224Ile
NM_001114979.2:c.670G>A	NP_001108451.1:p.Val224Ile
NM_001114980.2:c.388G>A MANE Plus Clinical	NP_001108452.1:p.Val130Ile
NM_001114981.2:c.388G>A	NP_001108453.1:p.Val130Ile
NM_001114982.2:c.388G>A	NP_001108454.1:p.Val130Ile
NM_001329144.2:c.670G>A	NP_001316073.1:p.Val224Ile
NM_001329145.2:c.388G>A	NP_001316074.1:p.Val130Ile
NM_001329146.2:c.133G>A	NP_001316075.1:p.Val45Ile
NM_001329148.2:c.670G>A	NP_001316077.1:p.Val224Ile
NM_001329149.2:c.388G>A	NP_001316078.1:p.Val130Ile
NM_001329150.2:c.133G>A	NP_001316079.1:p.Val45Ile
NM_001329964.2:c.664G>A	NP_001316893.1:p.Val222Ile