Canonical Allele Identifier: CA2752523

Gene: TP63

Linked Data

• ClinVar Variation Id: 259129
• ClinVar RCV Id: RCV000251759 ; RCV000311604 ; RCV000357046 ; RCV000392092 ; RCV001706338
• dbSNP Id: rs141847552
• ExAC: 3:189607208 C / T
• gnomAD v2: 3-189607208-C-T
• gnomAD v3: 3-189889419-C-T
• gnomAD v4: 3-189889419-C-T
• MyVariant Identifiers: chr3:g.189607208C>T (hg19) ; chr3:g.189889419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189889419C>T , CM000665.2:g.189889419C>T	GRCh38
NC_000003.11:g.189607208C>T , CM000665.1:g.189607208C>T	GRCh37
NC_000003.10:g.191089902C>T	NCBI36
NG_007550.1:g.262993C>T
NG_007550.2:g.262993C>T
NG_007550.3:g.297674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.1587C>T MANE Select	ENSP00000264731.3:p.Leu529=
ENST00000354600.10:c.1305C>T MANE Plus Clinical	ENSP00000346614.5:p.Leu435=
ENST00000264731.7:c.1587C>T	ENSP00000264731.3:p.Leu529=
ENST00000320472.9:c.1507+2868C>T	ENSP00000317510.5:n.1507+2868C>T
ENST00000354600.9:c.1305C>T	ENSP00000346614.5:p.Leu435=
ENST00000392460.7:c.1587C>T	ENSP00000376253.3:p.Leu529=
ENST00000392461.7:c.1225+2868C>T	ENSP00000376254.3:n.1225+2868C>T
ENST00000392463.6:c.1305C>T	ENSP00000376256.2:p.Leu435=
ENST00000440651.6:c.1575C>T	ENSP00000394337.2:p.Leu525=
ENST00000449992.5:c.1050C>T	ENSP00000387839.1:p.Leu350=
ENST00000456148.1:c.1293C>T	ENSP00000389485.1:p.Leu431=
NM_001114978.1:c.1587C>T	NP_001108450.1:p.Leu529=
NM_001114980.1:c.1305C>T	NP_001108452.1:p.Leu435=
NM_001114981.1:c.1305C>T	NP_001108453.1:p.Leu435=
NM_003722.4:c.1587C>T	NP_003713.3:p.Leu529=
XM_005247843.2:c.1575C>T	XP_005247900.1:p.Leu525=
XM_005247844.3:c.1536C>T	XP_005247901.1:p.Leu512=
XM_011513251.1:c.1584C>T	XP_011511553.1:p.Leu528=
XM_011513252.1:c.1581C>T	XP_011511554.1:p.Leu527=
XM_011513253.1:c.1548C>T	XP_011511555.1:p.Leu516=
NM_001329144.1:c.1507+2868C>T	NP_001316073.1:n.1507+2868C>T
NM_001329145.1:c.1225+2868C>T	NP_001316074.1:n.1225+2868C>T
NM_001329146.1:c.1050C>T	NP_001316075.1:p.Leu350=
NM_001329148.1:c.1575C>T	NP_001316077.1:p.Leu525=
NM_001329149.1:c.1213+2868C>T	NP_001316078.1:n.1213+2868C>T
NM_001329150.1:c.958+2868C>T	NP_001316079.1:n.958+2868C>T
NM_001329964.1:c.1581C>T	NP_001316893.1:p.Leu527=
NM_003722.5:c.1587C>T MANE Select	NP_003713.3:p.Leu529=
NM_001114978.2:c.1587C>T	NP_001108450.1:p.Leu529=
NM_001114980.2:c.1305C>T MANE Plus Clinical	NP_001108452.1:p.Leu435=
NM_001114981.2:c.1305C>T	NP_001108453.1:p.Leu435=
NM_001329144.2:c.1507+2868C>T	NP_001316073.1:n.1507+2868C>T
NM_001329145.2:c.1225+2868C>T	NP_001316074.1:n.1225+2868C>T
NM_001329146.2:c.1050C>T	NP_001316075.1:p.Leu350=
NM_001329148.2:c.1575C>T	NP_001316077.1:p.Leu525=
NM_001329149.2:c.1213+2868C>T	NP_001316078.1:n.1213+2868C>T
NM_001329150.2:c.958+2868C>T	NP_001316079.1:n.958+2868C>T
NM_001329964.2:c.1581C>T	NP_001316893.1:p.Leu527=