Canonical Allele Identifier: CA355759040

Gene: TP63

Linked Data

• ClinVar Variation Id: 1451179
• ClinVar RCV Id: RCV002007150
• dbSNP Id: rs2108864831
• MyVariant Identifiers: chr3:g.189608620C>A (hg19) ; chr3:g.189890831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189890831C>A , CM000665.2:g.189890831C>A	GRCh38
NC_000003.11:g.189608620C>A , CM000665.1:g.189608620C>A	GRCh37
NC_000003.10:g.191091314C>A	NCBI36
NG_007550.1:g.264405C>A
NG_007550.2:g.264405C>A
NG_007550.3:g.299086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.1695C>A MANE Select	ENSP00000264731.3:p.Phe565Leu
ENST00000354600.10:c.1413C>A MANE Plus Clinical	ENSP00000346614.5:p.Phe471Leu
ENST00000264731.7:c.1695C>A	ENSP00000264731.3:p.Phe565Leu
ENST00000320472.9:c.1508-3375C>A	ENSP00000317510.5:n.1508-3375C>A
ENST00000354600.9:c.1413C>A	ENSP00000346614.5:p.Phe471Leu
ENST00000392460.7:c.1652+1347C>A	ENSP00000376253.3:n.1652+1347C>A
ENST00000392461.7:c.1226-3375C>A	ENSP00000376254.3:n.1226-3375C>A
ENST00000392463.6:c.1370+1347C>A	ENSP00000376256.2:n.1370+1347C>A
ENST00000440651.6:c.1683C>A	ENSP00000394337.2:p.Phe561Leu
ENST00000449992.5:c.1158C>A	ENSP00000387839.1:p.Phe386Leu
ENST00000456148.1:c.1401C>A	ENSP00000389485.1:p.Phe467Leu
NM_001114978.1:c.1652+1347C>A	NP_001108450.1:n.1652+1347C>A
NM_001114980.1:c.1413C>A	NP_001108452.1:p.Phe471Leu
NM_001114981.1:c.1370+1347C>A	NP_001108453.1:n.1370+1347C>A
NM_003722.4:c.1695C>A	NP_003713.3:p.Phe565Leu
XM_005247843.2:c.1683C>A	XP_005247900.1:p.Phe561Leu
XM_005247844.3:c.1644C>A	XP_005247901.1:p.Phe548Leu
XM_011513251.1:c.1692C>A	XP_011511553.1:p.Phe564Leu
XM_011513252.1:c.1689C>A	XP_011511554.1:p.Phe563Leu
XM_011513253.1:c.1656C>A	XP_011511555.1:p.Phe552Leu
NM_001329144.1:c.1508-3375C>A	NP_001316073.1:n.1508-3375C>A
NM_001329145.1:c.1226-3375C>A	NP_001316074.1:n.1226-3375C>A
NM_001329146.1:c.1158C>A	NP_001316075.1:p.Phe386Leu
NM_001329148.1:c.1683C>A	NP_001316077.1:p.Phe561Leu
NM_001329149.1:c.1214-3375C>A	NP_001316078.1:n.1214-3375C>A
NM_001329150.1:c.959-3375C>A	NP_001316079.1:n.959-3375C>A
NM_001329964.1:c.1689C>A	NP_001316893.1:p.Phe563Leu
NM_003722.5:c.1695C>A MANE Select	NP_003713.3:p.Phe565Leu
NM_001114978.2:c.1652+1347C>A	NP_001108450.1:n.1652+1347C>A
NM_001114980.2:c.1413C>A MANE Plus Clinical	NP_001108452.1:p.Phe471Leu
NM_001114981.2:c.1370+1347C>A	NP_001108453.1:n.1370+1347C>A
NM_001329144.2:c.1508-3375C>A	NP_001316073.1:n.1508-3375C>A
NM_001329145.2:c.1226-3375C>A	NP_001316074.1:n.1226-3375C>A
NM_001329146.2:c.1158C>A	NP_001316075.1:p.Phe386Leu
NM_001329148.2:c.1683C>A	NP_001316077.1:p.Phe561Leu
NM_001329149.2:c.1214-3375C>A	NP_001316078.1:n.1214-3375C>A
NM_001329150.2:c.959-3375C>A	NP_001316079.1:n.959-3375C>A
NM_001329964.2:c.1689C>A	NP_001316893.1:p.Phe563Leu