Canonical Allele Identifier: CA2752549

Gene: TP63

Linked Data

• ClinVar Variation Id: 2721206
• ClinVar RCV Id: RCV003592908
• dbSNP Id: rs747808524
• ExAC: 3:189608586 C / T
• gnomAD v2: 3-189608586-C-T
• gnomAD v3: 3-189890797-C-T
• gnomAD v4: 3-189890797-C-T
• MyVariant Identifiers: chr3:g.189608586C>T (hg19) ; chr3:g.189890797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189890797C>T , CM000665.2:g.189890797C>T	GRCh38
NC_000003.11:g.189608586C>T , CM000665.1:g.189608586C>T	GRCh37
NC_000003.10:g.191091280C>T	NCBI36
NG_007550.1:g.264371C>T
NG_007550.2:g.264371C>T
NG_007550.3:g.299052C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264731.8:c.1661C>T MANE Select	ENSP00000264731.3:p.Ala554Val
ENST00000354600.10:c.1379C>T MANE Plus Clinical	ENSP00000346614.5:p.Ala460Val
ENST00000264731.7:c.1661C>T	ENSP00000264731.3:p.Ala554Val
ENST00000320472.9:c.1508-3409C>T	ENSP00000317510.5:n.1508-3409C>T
ENST00000354600.9:c.1379C>T	ENSP00000346614.5:p.Ala460Val
ENST00000392460.7:c.1652+1313C>T	ENSP00000376253.3:n.1652+1313C>T
ENST00000392461.7:c.1226-3409C>T	ENSP00000376254.3:n.1226-3409C>T
ENST00000392463.6:c.1370+1313C>T	ENSP00000376256.2:n.1370+1313C>T
ENST00000440651.6:c.1649C>T	ENSP00000394337.2:p.Ala550Val
ENST00000449992.5:c.1124C>T	ENSP00000387839.1:p.Ala375Val
ENST00000456148.1:c.1367C>T	ENSP00000389485.1:p.Ala456Val
NM_001114978.1:c.1652+1313C>T	NP_001108450.1:n.1652+1313C>T
NM_001114980.1:c.1379C>T	NP_001108452.1:p.Ala460Val
NM_001114981.1:c.1370+1313C>T	NP_001108453.1:n.1370+1313C>T
NM_003722.4:c.1661C>T	NP_003713.3:p.Ala554Val
XM_005247843.2:c.1649C>T	XP_005247900.1:p.Ala550Val
XM_005247844.3:c.1610C>T	XP_005247901.1:p.Ala537Val
XM_011513251.1:c.1658C>T	XP_011511553.1:p.Ala553Val
XM_011513252.1:c.1655C>T	XP_011511554.1:p.Ala552Val
XM_011513253.1:c.1622C>T	XP_011511555.1:p.Ala541Val
NM_001329144.1:c.1508-3409C>T	NP_001316073.1:n.1508-3409C>T
NM_001329145.1:c.1226-3409C>T	NP_001316074.1:n.1226-3409C>T
NM_001329146.1:c.1124C>T	NP_001316075.1:p.Ala375Val
NM_001329148.1:c.1649C>T	NP_001316077.1:p.Ala550Val
NM_001329149.1:c.1214-3409C>T	NP_001316078.1:n.1214-3409C>T
NM_001329150.1:c.959-3409C>T	NP_001316079.1:n.959-3409C>T
NM_001329964.1:c.1655C>T	NP_001316893.1:p.Ala552Val
NM_003722.5:c.1661C>T MANE Select	NP_003713.3:p.Ala554Val
NM_001114978.2:c.1652+1313C>T	NP_001108450.1:n.1652+1313C>T
NM_001114980.2:c.1379C>T MANE Plus Clinical	NP_001108452.1:p.Ala460Val
NM_001114981.2:c.1370+1313C>T	NP_001108453.1:n.1370+1313C>T
NM_001329144.2:c.1508-3409C>T	NP_001316073.1:n.1508-3409C>T
NM_001329145.2:c.1226-3409C>T	NP_001316074.1:n.1226-3409C>T
NM_001329146.2:c.1124C>T	NP_001316075.1:p.Ala375Val
NM_001329148.2:c.1649C>T	NP_001316077.1:p.Ala550Val
NM_001329149.2:c.1214-3409C>T	NP_001316078.1:n.1214-3409C>T
NM_001329150.2:c.959-3409C>T	NP_001316079.1:n.959-3409C>T
NM_001329964.2:c.1655C>T	NP_001316893.1:p.Ala552Val