Canonical Allele Identifier: CA253874
Gene: TP63 HGNC NCBI

Linked Data

ClinVar Variation Id: 6535
ClinVar RCV Id: RCV000006909
dbSNP Id: rs121908842

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189890795A>T , CM000665.2:g.189890795A>T GRCh38
NC_000003.11:g.189608584A>T , CM000665.1:g.189608584A>T GRCh37
NC_000003.10:g.191091278A>T NCBI36
NG_007550.1:g.264369A>T
NG_007550.2:g.264369A>T
NG_007550.3:g.299050A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264731.8:c.1659A>T MANE Select ENSP00000264731.3:p.Leu553Phe
ENST00000354600.10:c.1377A>T MANE Plus Clinical ENSP00000346614.5:p.Leu459Phe
ENST00000264731.7:c.1659A>T ENSP00000264731.3:p.Leu553Phe
ENST00000320472.9:c.1508-3411A>T ENSP00000317510.5:n.1508-3411A>T
ENST00000354600.9:c.1377A>T ENSP00000346614.5:p.Leu459Phe
ENST00000392460.7:c.1652+1311A>T ENSP00000376253.3:n.1652+1311A>T
ENST00000392461.7:c.1226-3411A>T ENSP00000376254.3:n.1226-3411A>T
ENST00000392463.6:c.1370+1311A>T ENSP00000376256.2:n.1370+1311A>T
ENST00000440651.6:c.1647A>T ENSP00000394337.2:p.Leu549Phe
ENST00000449992.5:c.1122A>T ENSP00000387839.1:p.Leu374Phe
ENST00000456148.1:c.1365A>T ENSP00000389485.1:p.Leu455Phe
NM_001114978.1:c.1652+1311A>T NP_001108450.1:n.1652+1311A>T
NM_001114980.1:c.1377A>T NP_001108452.1:p.Leu459Phe
NM_001114981.1:c.1370+1311A>T NP_001108453.1:n.1370+1311A>T
NM_003722.4:c.1659A>T NP_003713.3:p.Leu553Phe
XM_005247843.2:c.1647A>T XP_005247900.1:p.Leu549Phe
XM_005247844.3:c.1608A>T XP_005247901.1:p.Leu536Phe
XM_011513251.1:c.1656A>T XP_011511553.1:p.Leu552Phe
XM_011513252.1:c.1653A>T XP_011511554.1:p.Leu551Phe
XM_011513253.1:c.1620A>T XP_011511555.1:p.Leu540Phe
NM_001329144.1:c.1508-3411A>T NP_001316073.1:n.1508-3411A>T
NM_001329145.1:c.1226-3411A>T NP_001316074.1:n.1226-3411A>T
NM_001329146.1:c.1122A>T NP_001316075.1:p.Leu374Phe
NM_001329148.1:c.1647A>T NP_001316077.1:p.Leu549Phe
NM_001329149.1:c.1214-3411A>T NP_001316078.1:n.1214-3411A>T
NM_001329150.1:c.959-3411A>T NP_001316079.1:n.959-3411A>T
NM_001329964.1:c.1653A>T NP_001316893.1:p.Leu551Phe
NM_003722.5:c.1659A>T MANE Select NP_003713.3:p.Leu553Phe
NM_001114978.2:c.1652+1311A>T NP_001108450.1:n.1652+1311A>T
NM_001114980.2:c.1377A>T MANE Plus Clinical NP_001108452.1:p.Leu459Phe
NM_001114981.2:c.1370+1311A>T NP_001108453.1:n.1370+1311A>T
NM_001329144.2:c.1508-3411A>T NP_001316073.1:n.1508-3411A>T
NM_001329145.2:c.1226-3411A>T NP_001316074.1:n.1226-3411A>T
NM_001329146.2:c.1122A>T NP_001316075.1:p.Leu374Phe
NM_001329148.2:c.1647A>T NP_001316077.1:p.Leu549Phe
NM_001329149.2:c.1214-3411A>T NP_001316078.1:n.1214-3411A>T
NM_001329150.2:c.959-3411A>T NP_001316079.1:n.959-3411A>T
NM_001329964.2:c.1653A>T NP_001316893.1:p.Leu551Phe