Canonical Allele Identifier: CA10615932

Gene: TP63

Linked Data

• ClinVar Variation Id: 344410
• ClinVar RCV Id: RCV000271478 ; RCV000325559 ; RCV000382554
• dbSNP Id: rs886058231
• gnomAD v4: 3-189895719-T-C
• MyVariant Identifiers: chr3:g.189613508T>C (hg19) ; chr3:g.189895719T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189895719T>C , CM000665.2:g.189895719T>C	GRCh38
NC_000003.11:g.189613508T>C , CM000665.1:g.189613508T>C	GRCh37
NC_000003.10:g.191096202T>C	NCBI36
NG_007550.1:g.269293T>C
NG_007550.2:g.269293T>C
NG_007550.3:g.303974T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.*1217T>C MANE Select	ENSP00000264731.3:n.*1217T>C
ENST00000354600.10:c.*1217T>C MANE Plus Clinical	ENSP00000346614.5:n.*1217T>C
ENST00000264731.7:c.*1217T>C	ENSP00000264731.3:n.*1217T>C
ENST00000354600.9:c.*1217T>C	ENSP00000346614.5:n.*1217T>C
NM_001114978.1:c.*1498T>C	NP_001108450.1:n.*1498T>C
NM_001114980.1:c.*1217T>C	NP_001108452.1:n.*1217T>C
NM_001114981.1:c.*1498T>C	NP_001108453.1:n.*1498T>C
NM_003722.4:c.*1217T>C	NP_003713.3:n.*1217T>C
XM_005247843.2:c.*1217T>C	XP_005247900.1:n.*1217T>C
XM_005247844.3:c.*1217T>C	XP_005247901.1:n.*1217T>C
XM_011513251.1:c.*1217T>C	XP_011511553.1:n.*1217T>C
XM_011513252.1:c.*1217T>C	XP_011511554.1:n.*1217T>C
XM_011513253.1:c.*1217T>C	XP_011511555.1:n.*1217T>C
NM_001329144.1:c.*1488T>C	NP_001316073.1:n.*1488T>C
NM_001329145.1:c.*1488T>C	NP_001316074.1:n.*1488T>C
NM_001329146.1:c.*1217T>C	NP_001316075.1:n.*1217T>C
NM_001329148.1:c.*1217T>C	NP_001316077.1:n.*1217T>C
NM_001329149.1:c.*1488T>C	NP_001316078.1:n.*1488T>C
NM_001329150.1:c.*1488T>C	NP_001316079.1:n.*1488T>C
NM_001329964.1:c.*1217T>C	NP_001316893.1:n.*1217T>C
NM_003722.5:c.*1217T>C MANE Select	NP_003713.3:n.*1217T>C
NM_001114978.2:c.*1498T>C	NP_001108450.1:n.*1498T>C
NM_001114980.2:c.*1217T>C MANE Plus Clinical	NP_001108452.1:n.*1217T>C
NM_001114981.2:c.*1498T>C	NP_001108453.1:n.*1498T>C
NM_001329144.2:c.*1488T>C	NP_001316073.1:n.*1488T>C
NM_001329145.2:c.*1488T>C	NP_001316074.1:n.*1488T>C
NM_001329146.2:c.*1217T>C	NP_001316075.1:n.*1217T>C
NM_001329148.2:c.*1217T>C	NP_001316077.1:n.*1217T>C
NM_001329149.2:c.*1488T>C	NP_001316078.1:n.*1488T>C
NM_001329150.2:c.*1488T>C	NP_001316079.1:n.*1488T>C
NM_001329964.2:c.*1217T>C	NP_001316893.1:n.*1217T>C