Canonical Allele Identifier: CA355758994

Gene: TP63

Linked Data

• ClinVar Variation Id: 689635
• ClinVar RCV Id: RCV000850386
• dbSNP Id: rs774221257
• MyVariant Identifiers: chr3:g.189608610T>C (hg19) ; chr3:g.189890821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189890821T>C , CM000665.2:g.189890821T>C	GRCh38
NC_000003.11:g.189608610T>C , CM000665.1:g.189608610T>C	GRCh37
NC_000003.10:g.191091304T>C	NCBI36
NG_007550.1:g.264395T>C
NG_007550.2:g.264395T>C
NG_007550.3:g.299076T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264731.8:c.1685T>C MANE Select	ENSP00000264731.3:p.Leu562Pro
ENST00000354600.10:c.1403T>C MANE Plus Clinical	ENSP00000346614.5:p.Leu468Pro
ENST00000264731.7:c.1685T>C	ENSP00000264731.3:p.Leu562Pro
ENST00000320472.9:c.1508-3385T>C	ENSP00000317510.5:n.1508-3385T>C
ENST00000354600.9:c.1403T>C	ENSP00000346614.5:p.Leu468Pro
ENST00000392460.7:c.1652+1337T>C	ENSP00000376253.3:n.1652+1337T>C
ENST00000392461.7:c.1226-3385T>C	ENSP00000376254.3:n.1226-3385T>C
ENST00000392463.6:c.1370+1337T>C	ENSP00000376256.2:n.1370+1337T>C
ENST00000440651.6:c.1673T>C	ENSP00000394337.2:p.Leu558Pro
ENST00000449992.5:c.1148T>C	ENSP00000387839.1:p.Leu383Pro
ENST00000456148.1:c.1391T>C	ENSP00000389485.1:p.Leu464Pro
NM_001114978.1:c.1652+1337T>C	NP_001108450.1:n.1652+1337T>C
NM_001114980.1:c.1403T>C	NP_001108452.1:p.Leu468Pro
NM_001114981.1:c.1370+1337T>C	NP_001108453.1:n.1370+1337T>C
NM_003722.4:c.1685T>C	NP_003713.3:p.Leu562Pro
XM_005247843.2:c.1673T>C	XP_005247900.1:p.Leu558Pro
XM_005247844.3:c.1634T>C	XP_005247901.1:p.Leu545Pro
XM_011513251.1:c.1682T>C	XP_011511553.1:p.Leu561Pro
XM_011513252.1:c.1679T>C	XP_011511554.1:p.Leu560Pro
XM_011513253.1:c.1646T>C	XP_011511555.1:p.Leu549Pro
NM_001329144.1:c.1508-3385T>C	NP_001316073.1:n.1508-3385T>C
NM_001329145.1:c.1226-3385T>C	NP_001316074.1:n.1226-3385T>C
NM_001329146.1:c.1148T>C	NP_001316075.1:p.Leu383Pro
NM_001329148.1:c.1673T>C	NP_001316077.1:p.Leu558Pro
NM_001329149.1:c.1214-3385T>C	NP_001316078.1:n.1214-3385T>C
NM_001329150.1:c.959-3385T>C	NP_001316079.1:n.959-3385T>C
NM_001329964.1:c.1679T>C	NP_001316893.1:p.Leu560Pro
NM_003722.5:c.1685T>C MANE Select	NP_003713.3:p.Leu562Pro
NM_001114978.2:c.1652+1337T>C	NP_001108450.1:n.1652+1337T>C
NM_001114980.2:c.1403T>C MANE Plus Clinical	NP_001108452.1:p.Leu468Pro
NM_001114981.2:c.1370+1337T>C	NP_001108453.1:n.1370+1337T>C
NM_001329144.2:c.1508-3385T>C	NP_001316073.1:n.1508-3385T>C
NM_001329145.2:c.1226-3385T>C	NP_001316074.1:n.1226-3385T>C
NM_001329146.2:c.1148T>C	NP_001316075.1:p.Leu383Pro
NM_001329148.2:c.1673T>C	NP_001316077.1:p.Leu558Pro
NM_001329149.2:c.1214-3385T>C	NP_001316078.1:n.1214-3385T>C
NM_001329150.2:c.959-3385T>C	NP_001316079.1:n.959-3385T>C
NM_001329964.2:c.1679T>C	NP_001316893.1:p.Leu560Pro