Canonical Allele Identifier: CA2752572

Gene: TP63

Linked Data

• ClinVar Variation Id: 901130
• ClinVar RCV Id: RCV001146824 ; RCV001146825 ; RCV001147713
• dbSNP Id: rs573105911
• ExAC: 3:189612009 G / A
• gnomAD v2: 3-189612009-G-A
• gnomAD v3: 3-189894220-G-A
• gnomAD v4: 3-189894220-G-A
• MyVariant Identifiers: chr3:g.189612009G>A (hg19) ; chr3:g.189894220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189894220G>A , CM000665.2:g.189894220G>A	GRCh38
NC_000003.11:g.189612009G>A , CM000665.1:g.189612009G>A	GRCh37
NC_000003.10:g.191094703G>A	NCBI36
NG_007550.1:g.267794G>A
NG_007550.2:g.267794G>A
NG_007550.3:g.302475G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264731.8:c.1761G>A MANE Select	ENSP00000264731.3:p.Leu587=
ENST00000354600.10:c.1479G>A MANE Plus Clinical	ENSP00000346614.5:p.Leu493=
ENST00000264731.7:c.1761G>A	ENSP00000264731.3:p.Leu587=
ENST00000320472.9:c.1522G>A	ENSP00000317510.5:p.Glu508Lys
ENST00000354600.9:c.1479G>A	ENSP00000346614.5:p.Leu493=
ENST00000392460.7:c.1667G>A	ENSP00000376253.3:p.Ter556=
ENST00000392461.7:c.1240G>A	ENSP00000376254.3:p.Glu414Lys
ENST00000392463.6:c.1385G>A	ENSP00000376256.2:p.Ter462=
ENST00000440651.6:c.1749G>A	ENSP00000394337.2:p.Leu583=
ENST00000449992.5:c.1224G>A	ENSP00000387839.1:p.Leu408=
ENST00000456148.1:c.1467G>A	ENSP00000389485.1:p.Leu489=
NM_001114978.1:c.1667G>A	NP_001108450.1:p.Ter556=
NM_001114980.1:c.1479G>A	NP_001108452.1:p.Leu493=
NM_001114981.1:c.1385G>A	NP_001108453.1:p.Ter462=
NM_003722.4:c.1761G>A	NP_003713.3:p.Leu587=
XM_005247843.2:c.1749G>A	XP_005247900.1:p.Leu583=
XM_005247844.3:c.1710G>A	XP_005247901.1:p.Leu570=
XM_011513251.1:c.1758G>A	XP_011511553.1:p.Leu586=
XM_011513252.1:c.1755G>A	XP_011511554.1:p.Leu585=
XM_011513253.1:c.1722G>A	XP_011511555.1:p.Leu574=
NM_001329144.1:c.1522G>A	NP_001316073.1:p.Glu508Lys
NM_001329145.1:c.1240G>A	NP_001316074.1:p.Glu414Lys
NM_001329146.1:c.1224G>A	NP_001316075.1:p.Leu408=
NM_001329148.1:c.1749G>A	NP_001316077.1:p.Leu583=
NM_001329149.1:c.1228G>A	NP_001316078.1:p.Glu410Lys
NM_001329150.1:c.973G>A	NP_001316079.1:p.Glu325Lys
NM_001329964.1:c.1755G>A	NP_001316893.1:p.Leu585=
NM_003722.5:c.1761G>A MANE Select	NP_003713.3:p.Leu587=
NM_001114978.2:c.1667G>A	NP_001108450.1:p.Ter556=
NM_001114980.2:c.1479G>A MANE Plus Clinical	NP_001108452.1:p.Leu493=
NM_001114981.2:c.1385G>A	NP_001108453.1:p.Ter462=
NM_001329144.2:c.1522G>A	NP_001316073.1:p.Glu508Lys
NM_001329145.2:c.1240G>A	NP_001316074.1:p.Glu414Lys
NM_001329146.2:c.1224G>A	NP_001316075.1:p.Leu408=
NM_001329148.2:c.1749G>A	NP_001316077.1:p.Leu583=
NM_001329149.2:c.1228G>A	NP_001316078.1:p.Glu410Lys
NM_001329150.2:c.973G>A	NP_001316079.1:p.Glu325Lys
NM_001329964.2:c.1755G>A	NP_001316893.1:p.Leu585=