Canonical Allele Identifier: CA16042468
Gene: TP63 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372787
ClinVar RCV Id: RCV000413411
dbSNP Id: rs1057517985

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189868635A>G , CM000665.2:g.189868635A>G GRCh38
NC_000003.11:g.189586424A>G , CM000665.1:g.189586424A>G GRCh37
NC_000003.10:g.191069118A>G NCBI36
NG_007550.1:g.242209A>G
NG_007550.2:g.242209A>G

Transcript Alleles

HGVS Amino-acid change
NM_001114978.1:c.1048A>G VV NP_001108450.1:p.Arg350Gly
NM_001114979.1:c.1048A>G VV NP_001108451.1:p.Arg350Gly
NM_001114980.1:c.766A>G VV NP_001108452.1:p.Arg256Gly
NM_001114981.1:c.766A>G VV NP_001108453.1:p.Arg256Gly
NM_001114982.1:c.766A>G VV NP_001108454.1:p.Arg256Gly
NM_003722.4:c.1048A>G VV NP_003713.3:p.Arg350Gly
XM_005247843.2:c.1048A>G XP_005247900.1:p.Arg350Gly
XM_005247844.3:c.997A>G XP_005247901.1:p.Arg333Gly
XM_005247846.2:c.1048A>G XP_005247903.1:p.Arg350Gly
XM_011513251.1:c.1045A>G XP_011511553.1:p.Arg349Gly
XM_011513252.1:c.1042A>G XP_011511554.1:p.Arg348Gly
XM_011513253.1:c.1009A>G XP_011511555.1:p.Arg337Gly
NM_001329144.1:c.1048A>G VV NP_001316073.1:p.Arg350Gly
NM_001329145.1:c.766A>G VV NP_001316074.1:p.Arg256Gly
NM_001329146.1:c.511A>G VV NP_001316075.1:p.Arg171Gly
NM_001329148.1:c.1048A>G VV NP_001316077.1:p.Arg350Gly
NM_001329149.1:c.766A>G VV NP_001316078.1:p.Arg256Gly
NM_001329150.1:c.511A>G VV NP_001316079.1:p.Arg171Gly
NM_001329964.1:c.1042A>G VV NP_001316893.1:p.Arg348Gly
NM_003722.5:c.1048A>G VV MANE Preferred
ENST00000264731.7:c.1048A>G ENSP00000264731.3:p.Arg350Gly
ENST00000320472.9:c.1048A>G ENSP00000317510.5:p.Arg350Gly
ENST00000354600.9:c.766A>G ENSP00000346614.5:p.Arg256Gly
ENST00000392460.7:n.1048A>G ENSP00000376253.3:p.Arg350Gly
ENST00000392461.7:n.766A>G ENSP00000376254.3:p.Arg256Gly
ENST00000392463.6:n.766A>G ENSP00000376256.2:p.Arg256Gly
ENST00000418709.6:c.1048A>G ENSP00000407144.2:p.Arg350Gly
ENST00000437221.5:n.766A>G ENSP00000392488.1:p.Arg256Gly
ENST00000440651.6:n.1048A>G ENSP00000394337.2:p.Arg350Gly
ENST00000449992.5:n.511A>G ENSP00000387839.1:p.Arg171Gly
ENST00000456148.1:n.766A>G ENSP00000389485.1:p.Arg256Gly
ENST00000460036.1:n.872A>G