Canonical Allele Identifier: CA355751689

Gene: TP63

Linked Data

• ClinVar Variation Id: 2581046
• ClinVar RCV Id: RCV003330281
• MyVariant Identifiers: chr3:g.189612265C>T (hg19) ; chr3:g.189894476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189894476C>T , CM000665.2:g.189894476C>T	GRCh38
NC_000003.11:g.189612265C>T , CM000665.1:g.189612265C>T	GRCh37
NC_000003.10:g.191094959C>T	NCBI36
NG_007550.1:g.268050C>T
NG_007550.2:g.268050C>T
NG_007550.3:g.302731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.2017C>T MANE Select	ENSP00000264731.3:p.Gln673Ter
ENST00000354600.10:c.1735C>T MANE Plus Clinical	ENSP00000346614.5:p.Gln579Ter
ENST00000264731.7:c.2017C>T	ENSP00000264731.3:p.Gln673Ter
ENST00000320472.9:c.*245C>T	ENSP00000317510.5:n.*245C>T
ENST00000354600.9:c.1735C>T	ENSP00000346614.5:p.Gln579Ter
ENST00000440651.6:c.2005C>T	ENSP00000394337.2:p.Gln669Ter
ENST00000449992.5:c.1480C>T	ENSP00000387839.1:p.Gln494Ter
ENST00000456148.1:c.1723C>T	ENSP00000389485.1:p.Gln575Ter
NM_001114978.1:c.*255C>T	NP_001108450.1:n.*255C>T
NM_001114980.1:c.1735C>T	NP_001108452.1:p.Gln579Ter
NM_001114981.1:c.*255C>T	NP_001108453.1:n.*255C>T
NM_003722.4:c.2017C>T	NP_003713.3:p.Gln673Ter
XM_005247843.2:c.2005C>T	XP_005247900.1:p.Gln669Ter
XM_005247844.3:c.1966C>T	XP_005247901.1:p.Gln656Ter
XM_011513251.1:c.2014C>T	XP_011511553.1:p.Gln672Ter
XM_011513252.1:c.2011C>T	XP_011511554.1:p.Gln671Ter
XM_011513253.1:c.1978C>T	XP_011511555.1:p.Gln660Ter
NM_001329144.1:c.*245C>T	NP_001316073.1:n.*245C>T
NM_001329145.1:c.*245C>T	NP_001316074.1:n.*245C>T
NM_001329146.1:c.1480C>T	NP_001316075.1:p.Gln494Ter
NM_001329148.1:c.2005C>T	NP_001316077.1:p.Gln669Ter
NM_001329149.1:c.*245C>T	NP_001316078.1:n.*245C>T
NM_001329150.1:c.*245C>T	NP_001316079.1:n.*245C>T
NM_001329964.1:c.2011C>T	NP_001316893.1:p.Gln671Ter
NM_003722.5:c.2017C>T MANE Select	NP_003713.3:p.Gln673Ter
NM_001114978.2:c.*255C>T	NP_001108450.1:n.*255C>T
NM_001114980.2:c.1735C>T MANE Plus Clinical	NP_001108452.1:p.Gln579Ter
NM_001114981.2:c.*255C>T	NP_001108453.1:n.*255C>T
NM_001329144.2:c.*245C>T	NP_001316073.1:n.*245C>T
NM_001329145.2:c.*245C>T	NP_001316074.1:n.*245C>T
NM_001329146.2:c.1480C>T	NP_001316075.1:p.Gln494Ter
NM_001329148.2:c.2005C>T	NP_001316077.1:p.Gln669Ter
NM_001329149.2:c.*245C>T	NP_001316078.1:n.*245C>T
NM_001329150.2:c.*245C>T	NP_001316079.1:n.*245C>T
NM_001329964.2:c.2011C>T	NP_001316893.1:p.Gln671Ter