Canonical Allele Identifier: CA204448

Gene: TP63

Linked Data

• ClinVar Variation Id: 208418
• ClinVar RCV Id: RCV000190455
• dbSNP Id: rs797044484
• MyVariant Identifiers: chr3:g.189586413C>G (hg19) ; chr3:g.189868624C>G (hg38)
• PubMed: PMID:19903181 ; PMID:25983622

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189868624C>G , CM000665.2:g.189868624C>G	GRCh38
NC_000003.11:g.189586413C>G , CM000665.1:g.189586413C>G	GRCh37
NC_000003.10:g.191069107C>G	NCBI36
NG_007550.1:g.242198C>G
NG_007550.2:g.242198C>G
NG_007550.3:g.276879C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264731.8:c.1037C>G MANE Select	ENSP00000264731.3:p.Ala346Gly
ENST00000354600.10:c.755C>G MANE Plus Clinical	ENSP00000346614.5:p.Ala252Gly
ENST00000264731.7:c.1037C>G	ENSP00000264731.3:p.Ala346Gly
ENST00000320472.9:c.1037C>G	ENSP00000317510.5:p.Ala346Gly
ENST00000354600.9:c.755C>G	ENSP00000346614.5:p.Ala252Gly
ENST00000392460.7:c.1037C>G	ENSP00000376253.3:p.Ala346Gly
ENST00000392461.7:c.755C>G	ENSP00000376254.3:p.Ala252Gly
ENST00000392463.6:c.755C>G	ENSP00000376256.2:p.Ala252Gly
ENST00000418709.6:c.1037C>G	ENSP00000407144.2:p.Ala346Gly
ENST00000437221.5:c.755C>G	ENSP00000392488.1:p.Ala252Gly
ENST00000440651.6:c.1037C>G	ENSP00000394337.2:p.Ala346Gly
ENST00000449992.5:c.500C>G	ENSP00000387839.1:p.Ala167Gly
ENST00000456148.1:c.755C>G	ENSP00000389485.1:p.Ala252Gly
ENST00000460036.1:n.861C>G
NM_001114978.1:c.1037C>G	NP_001108450.1:p.Ala346Gly
NM_001114979.1:c.1037C>G	NP_001108451.1:p.Ala346Gly
NM_001114980.1:c.755C>G	NP_001108452.1:p.Ala252Gly
NM_001114981.1:c.755C>G	NP_001108453.1:p.Ala252Gly
NM_001114982.1:c.755C>G	NP_001108454.1:p.Ala252Gly
NM_003722.4:c.1037C>G	NP_003713.3:p.Ala346Gly
XM_005247843.2:c.1037C>G	XP_005247900.1:p.Ala346Gly
XM_005247844.3:c.986C>G	XP_005247901.1:p.Ala329Gly
XM_005247846.2:c.1037C>G	XP_005247903.1:p.Ala346Gly
XM_011513251.1:c.1034C>G	XP_011511553.1:p.Ala345Gly
XM_011513252.1:c.1031C>G	XP_011511554.1:p.Ala344Gly
XM_011513253.1:c.998C>G	XP_011511555.1:p.Ala333Gly
NM_001329144.1:c.1037C>G	NP_001316073.1:p.Ala346Gly
NM_001329145.1:c.755C>G	NP_001316074.1:p.Ala252Gly
NM_001329146.1:c.500C>G	NP_001316075.1:p.Ala167Gly
NM_001329148.1:c.1037C>G	NP_001316077.1:p.Ala346Gly
NM_001329149.1:c.755C>G	NP_001316078.1:p.Ala252Gly
NM_001329150.1:c.500C>G	NP_001316079.1:p.Ala167Gly
NM_001329964.1:c.1031C>G	NP_001316893.1:p.Ala344Gly
NM_003722.5:c.1037C>G MANE Select	NP_003713.3:p.Ala346Gly
NM_001114978.2:c.1037C>G	NP_001108450.1:p.Ala346Gly
NM_001114979.2:c.1037C>G	NP_001108451.1:p.Ala346Gly
NM_001114980.2:c.755C>G MANE Plus Clinical	NP_001108452.1:p.Ala252Gly
NM_001114981.2:c.755C>G	NP_001108453.1:p.Ala252Gly
NM_001114982.2:c.755C>G	NP_001108454.1:p.Ala252Gly
NM_001329144.2:c.1037C>G	NP_001316073.1:p.Ala346Gly
NM_001329145.2:c.755C>G	NP_001316074.1:p.Ala252Gly
NM_001329146.2:c.500C>G	NP_001316075.1:p.Ala167Gly
NM_001329148.2:c.1037C>G	NP_001316077.1:p.Ala346Gly
NM_001329149.2:c.755C>G	NP_001316078.1:p.Ala252Gly
NM_001329150.2:c.500C>G	NP_001316079.1:p.Ala167Gly
NM_001329964.2:c.1031C>G	NP_001316893.1:p.Ala344Gly