Canonical Allele Identifier: CA2752213

Gene: TP63

Linked Data

• dbSNP Id: rs761674268
• ExAC: 3:189582041 A / G
• gnomAD v2: 3-189582041-A-G
• gnomAD v3: 3-189864252-A-G
• gnomAD v4: 3-189864252-A-G
• MyVariant Identifiers: chr3:g.189582041A>G (hg19) ; chr3:g.189864252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189864252A>G , CM000665.2:g.189864252A>G	GRCh38
NC_000003.11:g.189582041A>G , CM000665.1:g.189582041A>G	GRCh37
NC_000003.10:g.191064735A>G	NCBI36
NG_007550.1:g.237826A>G
NG_007550.2:g.237826A>G
NG_007550.3:g.272507A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.600A>G MANE Select	ENSP00000264731.3:p.Lys200=
ENST00000354600.10:c.318A>G MANE Plus Clinical	ENSP00000346614.5:p.Lys106=
ENST00000264731.7:c.600A>G	ENSP00000264731.3:p.Lys200=
ENST00000320472.9:c.600A>G	ENSP00000317510.5:p.Lys200=
ENST00000354600.9:c.318A>G	ENSP00000346614.5:p.Lys106=
ENST00000392460.7:c.600A>G	ENSP00000376253.3:p.Lys200=
ENST00000392461.7:c.318A>G	ENSP00000376254.3:p.Lys106=
ENST00000392463.6:c.318A>G	ENSP00000376256.2:p.Lys106=
ENST00000418709.6:c.600A>G	ENSP00000407144.2:p.Lys200=
ENST00000434928.5:c.534A>G	ENSP00000401661.1:p.Lys178=
ENST00000437221.5:c.318A>G	ENSP00000392488.1:p.Lys106=
ENST00000440651.6:c.600A>G	ENSP00000394337.2:p.Lys200=
ENST00000449992.5:c.63A>G	ENSP00000387839.1:p.Lys21=
ENST00000456148.1:c.318A>G	ENSP00000389485.1:p.Lys106=
ENST00000460036.1:n.424A>G
NM_001114978.1:c.600A>G	NP_001108450.1:p.Lys200=
NM_001114979.1:c.600A>G	NP_001108451.1:p.Lys200=
NM_001114980.1:c.318A>G	NP_001108452.1:p.Lys106=
NM_001114981.1:c.318A>G	NP_001108453.1:p.Lys106=
NM_001114982.1:c.318A>G	NP_001108454.1:p.Lys106=
NM_003722.4:c.600A>G	NP_003713.3:p.Lys200=
XM_005247843.2:c.600A>G	XP_005247900.1:p.Lys200=
XM_005247844.3:c.549A>G	XP_005247901.1:p.Lys183=
XM_005247846.2:c.600A>G	XP_005247903.1:p.Lys200=
XM_011513251.1:c.597A>G	XP_011511553.1:p.Lys199=
XM_011513252.1:c.594A>G	XP_011511554.1:p.Lys198=
XM_011513253.1:c.561A>G	XP_011511555.1:p.Lys187=
NM_001329144.1:c.600A>G	NP_001316073.1:p.Lys200=
NM_001329145.1:c.318A>G	NP_001316074.1:p.Lys106=
NM_001329146.1:c.63A>G	NP_001316075.1:p.Lys21=
NM_001329148.1:c.600A>G	NP_001316077.1:p.Lys200=
NM_001329149.1:c.318A>G	NP_001316078.1:p.Lys106=
NM_001329150.1:c.63A>G	NP_001316079.1:p.Lys21=
NM_001329964.1:c.594A>G	NP_001316893.1:p.Lys198=
NM_003722.5:c.600A>G MANE Select	NP_003713.3:p.Lys200=
NM_001114978.2:c.600A>G	NP_001108450.1:p.Lys200=
NM_001114979.2:c.600A>G	NP_001108451.1:p.Lys200=
NM_001114980.2:c.318A>G MANE Plus Clinical	NP_001108452.1:p.Lys106=
NM_001114981.2:c.318A>G	NP_001108453.1:p.Lys106=
NM_001114982.2:c.318A>G	NP_001108454.1:p.Lys106=
NM_001329144.2:c.600A>G	NP_001316073.1:p.Lys200=
NM_001329145.2:c.318A>G	NP_001316074.1:p.Lys106=
NM_001329146.2:c.63A>G	NP_001316075.1:p.Lys21=
NM_001329148.2:c.600A>G	NP_001316077.1:p.Lys200=
NM_001329149.2:c.318A>G	NP_001316078.1:p.Lys106=
NM_001329150.2:c.63A>G	NP_001316079.1:p.Lys21=
NM_001329964.2:c.594A>G	NP_001316893.1:p.Lys198=