Canonical Allele Identifier: CA10615423

Gene: TP63

Linked Data

• ClinVar Variation Id: 344426
• ClinVar RCV Id: RCV000289237 ; RCV000351156 ; RCV000381182
• dbSNP Id: rs886058237
• gnomAD v2: 3-189614488-C-A
• gnomAD v3: 3-189896699-C-A
• gnomAD v4: 3-189896699-C-A
• MyVariant Identifiers: chr3:g.189614488C>A (hg19) ; chr3:g.189896699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189896699C>A , CM000665.2:g.189896699C>A	GRCh38
NC_000003.11:g.189614488C>A , CM000665.1:g.189614488C>A	GRCh37
NC_000003.10:g.191097182C>A	NCBI36
NG_007550.1:g.270273C>A
NG_007550.2:g.270273C>A
NG_007550.3:g.304954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.*2197C>A MANE Select	ENSP00000264731.3:n.*2197C>A
ENST00000354600.10:c.*2197C>A MANE Plus Clinical	ENSP00000346614.5:n.*2197C>A
ENST00000264731.7:c.*2197C>A	ENSP00000264731.3:n.*2197C>A
ENST00000354600.9:c.*2197C>A	ENSP00000346614.5:n.*2197C>A
NM_001114978.1:c.*2478C>A	NP_001108450.1:n.*2478C>A
NM_001114980.1:c.*2197C>A	NP_001108452.1:n.*2197C>A
NM_001114981.1:c.*2478C>A	NP_001108453.1:n.*2478C>A
NM_003722.4:c.*2197C>A	NP_003713.3:n.*2197C>A
XM_005247843.2:c.*2197C>A	XP_005247900.1:n.*2197C>A
XM_005247844.3:c.*2197C>A	XP_005247901.1:n.*2197C>A
XM_011513251.1:c.*2197C>A	XP_011511553.1:n.*2197C>A
XM_011513252.1:c.*2197C>A	XP_011511554.1:n.*2197C>A
XM_011513253.1:c.*2197C>A	XP_011511555.1:n.*2197C>A
NM_001329144.1:c.*2468C>A	NP_001316073.1:n.*2468C>A
NM_001329145.1:c.*2468C>A	NP_001316074.1:n.*2468C>A
NM_001329146.1:c.*2197C>A	NP_001316075.1:n.*2197C>A
NM_001329148.1:c.*2197C>A	NP_001316077.1:n.*2197C>A
NM_001329149.1:c.*2468C>A	NP_001316078.1:n.*2468C>A
NM_001329150.1:c.*2468C>A	NP_001316079.1:n.*2468C>A
NM_001329964.1:c.*2197C>A	NP_001316893.1:n.*2197C>A
NM_003722.5:c.*2197C>A MANE Select	NP_003713.3:n.*2197C>A
NM_001114978.2:c.*2478C>A	NP_001108450.1:n.*2478C>A
NM_001114980.2:c.*2197C>A MANE Plus Clinical	NP_001108452.1:n.*2197C>A
NM_001114981.2:c.*2478C>A	NP_001108453.1:n.*2478C>A
NM_001329144.2:c.*2468C>A	NP_001316073.1:n.*2468C>A
NM_001329145.2:c.*2468C>A	NP_001316074.1:n.*2468C>A
NM_001329146.2:c.*2197C>A	NP_001316075.1:n.*2197C>A
NM_001329148.2:c.*2197C>A	NP_001316077.1:n.*2197C>A
NM_001329149.2:c.*2468C>A	NP_001316078.1:n.*2468C>A
NM_001329150.2:c.*2468C>A	NP_001316079.1:n.*2468C>A
NM_001329964.2:c.*2197C>A	NP_001316893.1:n.*2197C>A