Canonical Allele Identifier: CA118342

Gene: TP63

Linked Data

• ClinVar Variation Id: 6544
• ClinVar RCV Id: RCV000006918 ; RCV000006919
• dbSNP Id: rs121908845
• MyVariant Identifiers: chr3:g.189607267T>C (hg19) ; chr3:g.189889478T>C (hg38)
• PubMed: PMID:10886756 ; PMID:15200513

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189889478T>C , CM000665.2:g.189889478T>C	GRCh38
NC_000003.11:g.189607267T>C , CM000665.1:g.189607267T>C	GRCh37
NC_000003.10:g.191089961T>C	NCBI36
NG_007550.1:g.263052T>C
NG_007550.2:g.263052T>C
NG_007550.3:g.297733T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.1646T>C MANE Select	ENSP00000264731.3:p.Ile549Thr
ENST00000354600.10:c.1364T>C MANE Plus Clinical	ENSP00000346614.5:p.Ile455Thr
ENST00000264731.7:c.1646T>C	ENSP00000264731.3:p.Ile549Thr
ENST00000320472.9:c.1507+2927T>C	ENSP00000317510.5:n.1507+2927T>C
ENST00000354600.9:c.1364T>C	ENSP00000346614.5:p.Ile455Thr
ENST00000392460.7:c.1646T>C	ENSP00000376253.3:p.Ile549Thr
ENST00000392461.7:c.1225+2927T>C	ENSP00000376254.3:n.1225+2927T>C
ENST00000392463.6:c.1364T>C	ENSP00000376256.2:p.Ile455Thr
ENST00000440651.6:c.1634T>C	ENSP00000394337.2:p.Ile545Thr
ENST00000449992.5:c.1109T>C	ENSP00000387839.1:p.Ile370Thr
ENST00000456148.1:c.1352T>C	ENSP00000389485.1:p.Ile451Thr
NM_001114978.1:c.1646T>C	NP_001108450.1:p.Ile549Thr
NM_001114980.1:c.1364T>C	NP_001108452.1:p.Ile455Thr
NM_001114981.1:c.1364T>C	NP_001108453.1:p.Ile455Thr
NM_003722.4:c.1646T>C	NP_003713.3:p.Ile549Thr
XM_005247843.2:c.1634T>C	XP_005247900.1:p.Ile545Thr
XM_005247844.3:c.1595T>C	XP_005247901.1:p.Ile532Thr
XM_011513251.1:c.1643T>C	XP_011511553.1:p.Ile548Thr
XM_011513252.1:c.1640T>C	XP_011511554.1:p.Ile547Thr
XM_011513253.1:c.1607T>C	XP_011511555.1:p.Ile536Thr
NM_001329144.1:c.1507+2927T>C	NP_001316073.1:n.1507+2927T>C
NM_001329145.1:c.1225+2927T>C	NP_001316074.1:n.1225+2927T>C
NM_001329146.1:c.1109T>C	NP_001316075.1:p.Ile370Thr
NM_001329148.1:c.1634T>C	NP_001316077.1:p.Ile545Thr
NM_001329149.1:c.1213+2927T>C	NP_001316078.1:n.1213+2927T>C
NM_001329150.1:c.958+2927T>C	NP_001316079.1:n.958+2927T>C
NM_001329964.1:c.1640T>C	NP_001316893.1:p.Ile547Thr
NM_003722.5:c.1646T>C MANE Select	NP_003713.3:p.Ile549Thr
NM_001114978.2:c.1646T>C	NP_001108450.1:p.Ile549Thr
NM_001114980.2:c.1364T>C MANE Plus Clinical	NP_001108452.1:p.Ile455Thr
NM_001114981.2:c.1364T>C	NP_001108453.1:p.Ile455Thr
NM_001329144.2:c.1507+2927T>C	NP_001316073.1:n.1507+2927T>C
NM_001329145.2:c.1225+2927T>C	NP_001316074.1:n.1225+2927T>C
NM_001329146.2:c.1109T>C	NP_001316075.1:p.Ile370Thr
NM_001329148.2:c.1634T>C	NP_001316077.1:p.Ile545Thr
NM_001329149.2:c.1213+2927T>C	NP_001316078.1:n.1213+2927T>C
NM_001329150.2:c.958+2927T>C	NP_001316079.1:n.958+2927T>C
NM_001329964.2:c.1640T>C	NP_001316893.1:p.Ile547Thr