Canonical Allele Identifier: CA253875
Gene: TP63 HGNC NCBI

Linked Data

ClinVar Variation Id: 6536
ClinVar RCV Id: RCV000006910 RCV001067605
dbSNP Id: rs121908843
MyVariant Identifiers: chr3:g.189608606T>G (hg19) chr3:g.189890817T>G (hg38)
PubMed: PMID:9774969 PMID:11159940
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189890817T>G , CM000665.2:g.189890817T>G GRCh38
NC_000003.11:g.189608606T>G , CM000665.1:g.189608606T>G GRCh37
NC_000003.10:g.191091300T>G NCBI36
NG_007550.1:g.264391T>G
NG_007550.2:g.264391T>G
NG_007550.3:g.299072T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264731.8:c.1681T>G MANE Select ENSP00000264731.3:p.Cys561Gly
ENST00000354600.10:c.1399T>G MANE Plus Clinical ENSP00000346614.5:p.Cys467Gly
ENST00000264731.7:c.1681T>G ENSP00000264731.3:p.Cys561Gly
ENST00000320472.9:c.1508-3389T>G ENSP00000317510.5:n.1508-3389T>G
ENST00000354600.9:c.1399T>G ENSP00000346614.5:p.Cys467Gly
ENST00000392460.7:c.1652+1333T>G ENSP00000376253.3:n.1652+1333T>G
ENST00000392461.7:c.1226-3389T>G ENSP00000376254.3:n.1226-3389T>G
ENST00000392463.6:c.1370+1333T>G ENSP00000376256.2:n.1370+1333T>G
ENST00000440651.6:c.1669T>G ENSP00000394337.2:p.Cys557Gly
ENST00000449992.5:c.1144T>G ENSP00000387839.1:p.Cys382Gly
ENST00000456148.1:c.1387T>G ENSP00000389485.1:p.Cys463Gly
NM_001114978.1:c.1652+1333T>G NP_001108450.1:n.1652+1333T>G
NM_001114980.1:c.1399T>G NP_001108452.1:p.Cys467Gly
NM_001114981.1:c.1370+1333T>G NP_001108453.1:n.1370+1333T>G
NM_003722.4:c.1681T>G NP_003713.3:p.Cys561Gly
XM_005247843.2:c.1669T>G XP_005247900.1:p.Cys557Gly
XM_005247844.3:c.1630T>G XP_005247901.1:p.Cys544Gly
XM_011513251.1:c.1678T>G XP_011511553.1:p.Cys560Gly
XM_011513252.1:c.1675T>G XP_011511554.1:p.Cys559Gly
XM_011513253.1:c.1642T>G XP_011511555.1:p.Cys548Gly
NM_001329144.1:c.1508-3389T>G NP_001316073.1:n.1508-3389T>G
NM_001329145.1:c.1226-3389T>G NP_001316074.1:n.1226-3389T>G
NM_001329146.1:c.1144T>G NP_001316075.1:p.Cys382Gly
NM_001329148.1:c.1669T>G NP_001316077.1:p.Cys557Gly
NM_001329149.1:c.1214-3389T>G NP_001316078.1:n.1214-3389T>G
NM_001329150.1:c.959-3389T>G NP_001316079.1:n.959-3389T>G
NM_001329964.1:c.1675T>G NP_001316893.1:p.Cys559Gly
NM_003722.5:c.1681T>G MANE Select NP_003713.3:p.Cys561Gly
NM_001114978.2:c.1652+1333T>G NP_001108450.1:n.1652+1333T>G
NM_001114980.2:c.1399T>G MANE Plus Clinical NP_001108452.1:p.Cys467Gly
NM_001114981.2:c.1370+1333T>G NP_001108453.1:n.1370+1333T>G
NM_001329144.2:c.1508-3389T>G NP_001316073.1:n.1508-3389T>G
NM_001329145.2:c.1226-3389T>G NP_001316074.1:n.1226-3389T>G
NM_001329146.2:c.1144T>G NP_001316075.1:p.Cys382Gly
NM_001329148.2:c.1669T>G NP_001316077.1:p.Cys557Gly
NM_001329149.2:c.1214-3389T>G NP_001316078.1:n.1214-3389T>G
NM_001329150.2:c.959-3389T>G NP_001316079.1:n.959-3389T>G
NM_001329964.2:c.1675T>G NP_001316893.1:p.Cys559Gly
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