Canonical Allele Identifier: CA16042490
Gene: TP63 HGNC NCBI

Linked Data

ClinVar Variation Id: 372540
dbSNP Id: rs1057517841

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189890863T>C , CM000665.2:g.189890863T>C GRCh38
NC_000003.11:g.189608652T>C , CM000665.1:g.189608652T>C GRCh37
NC_000003.10:g.191091346T>C NCBI36
NG_007550.1:g.264437T>C
NG_007550.2:g.264437T>C
NG_007550.3:g.299118T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264731.8:c.1727T>C MANE Select ENSP00000264731.3:p.Ile576Thr
ENST00000354600.10:c.1445T>C MANE Plus Clinical ENSP00000346614.5:p.Ile482Thr
ENST00000264731.7:c.1727T>C ENSP00000264731.3:p.Ile576Thr
ENST00000320472.9:c.1508-3343T>C ENSP00000317510.5:n.1508-3343T>C
ENST00000354600.9:c.1445T>C ENSP00000346614.5:p.Ile482Thr
ENST00000392460.7:c.1652+1379T>C ENSP00000376253.3:n.1652+1379T>C
ENST00000392461.7:c.1226-3343T>C ENSP00000376254.3:n.1226-3343T>C
ENST00000392463.6:c.1370+1379T>C ENSP00000376256.2:n.1370+1379T>C
ENST00000440651.6:c.1715T>C ENSP00000394337.2:p.Ile572Thr
ENST00000449992.5:c.1190T>C ENSP00000387839.1:p.Ile397Thr
ENST00000456148.1:c.1433T>C ENSP00000389485.1:p.Ile478Thr
NM_001114978.1:c.1652+1379T>C NP_001108450.1:n.1652+1379T>C
NM_001114980.1:c.1445T>C NP_001108452.1:p.Ile482Thr
NM_001114981.1:c.1370+1379T>C NP_001108453.1:n.1370+1379T>C
NM_003722.4:c.1727T>C NP_003713.3:p.Ile576Thr
XM_005247843.2:c.1715T>C XP_005247900.1:p.Ile572Thr
XM_005247844.3:c.1676T>C XP_005247901.1:p.Ile559Thr
XM_011513251.1:c.1724T>C XP_011511553.1:p.Ile575Thr
XM_011513252.1:c.1721T>C XP_011511554.1:p.Ile574Thr
XM_011513253.1:c.1688T>C XP_011511555.1:p.Ile563Thr
NM_001329144.1:c.1508-3343T>C NP_001316073.1:n.1508-3343T>C
NM_001329145.1:c.1226-3343T>C NP_001316074.1:n.1226-3343T>C
NM_001329146.1:c.1190T>C NP_001316075.1:p.Ile397Thr
NM_001329148.1:c.1715T>C NP_001316077.1:p.Ile572Thr
NM_001329149.1:c.1214-3343T>C NP_001316078.1:n.1214-3343T>C
NM_001329150.1:c.959-3343T>C NP_001316079.1:n.959-3343T>C
NM_001329964.1:c.1721T>C NP_001316893.1:p.Ile574Thr
NM_003722.5:c.1727T>C MANE Select NP_003713.3:p.Ile576Thr
NM_001114978.2:c.1652+1379T>C NP_001108450.1:n.1652+1379T>C
NM_001114980.2:c.1445T>C MANE Plus Clinical NP_001108452.1:p.Ile482Thr
NM_001114981.2:c.1370+1379T>C NP_001108453.1:n.1370+1379T>C
NM_001329144.2:c.1508-3343T>C NP_001316073.1:n.1508-3343T>C
NM_001329145.2:c.1226-3343T>C NP_001316074.1:n.1226-3343T>C
NM_001329146.2:c.1190T>C NP_001316075.1:p.Ile397Thr
NM_001329148.2:c.1715T>C NP_001316077.1:p.Ile572Thr
NM_001329149.2:c.1214-3343T>C NP_001316078.1:n.1214-3343T>C
NM_001329150.2:c.959-3343T>C NP_001316079.1:n.959-3343T>C
NM_001329964.2:c.1721T>C NP_001316893.1:p.Ile574Thr