Canonical Allele Identifier: CA2752558

Gene: TP63

Linked Data

• dbSNP Id: rs121908846
• ExAC: 3:189608663 T / G
• gnomAD v2: 3-189608663-T-G
• gnomAD v3: 3-189890874-T-G
• gnomAD v4: 3-189890874-T-G
• MyVariant Identifiers: chr3:g.189608663T>G (hg19) ; chr3:g.189890874T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189890874T>G , CM000665.2:g.189890874T>G	GRCh38
NC_000003.11:g.189608663T>G , CM000665.1:g.189608663T>G	GRCh37
NC_000003.10:g.191091357T>G	NCBI36
NG_007550.1:g.264448T>G
NG_007550.2:g.264448T>G
NG_007550.3:g.299129T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264731.8:c.1738T>G MANE Select	ENSP00000264731.3:p.Ser580Ala
ENST00000354600.10:c.1456T>G MANE Plus Clinical	ENSP00000346614.5:p.Ser486Ala
ENST00000264731.7:c.1738T>G	ENSP00000264731.3:p.Ser580Ala
ENST00000320472.9:c.1508-3332T>G	ENSP00000317510.5:n.1508-3332T>G
ENST00000354600.9:c.1456T>G	ENSP00000346614.5:p.Ser486Ala
ENST00000392460.7:c.1652+1390T>G	ENSP00000376253.3:n.1652+1390T>G
ENST00000392461.7:c.1226-3332T>G	ENSP00000376254.3:n.1226-3332T>G
ENST00000392463.6:c.1370+1390T>G	ENSP00000376256.2:n.1370+1390T>G
ENST00000440651.6:c.1726T>G	ENSP00000394337.2:p.Ser576Ala
ENST00000449992.5:c.1201T>G	ENSP00000387839.1:p.Ser401Ala
ENST00000456148.1:c.1444T>G	ENSP00000389485.1:p.Ser482Ala
NM_001114978.1:c.1652+1390T>G	NP_001108450.1:n.1652+1390T>G
NM_001114980.1:c.1456T>G	NP_001108452.1:p.Ser486Ala
NM_001114981.1:c.1370+1390T>G	NP_001108453.1:n.1370+1390T>G
NM_003722.4:c.1738T>G	NP_003713.3:p.Ser580Ala
XM_005247843.2:c.1726T>G	XP_005247900.1:p.Ser576Ala
XM_005247844.3:c.1687T>G	XP_005247901.1:p.Ser563Ala
XM_011513251.1:c.1735T>G	XP_011511553.1:p.Ser579Ala
XM_011513252.1:c.1732T>G	XP_011511554.1:p.Ser578Ala
XM_011513253.1:c.1699T>G	XP_011511555.1:p.Ser567Ala
NM_001329144.1:c.1508-3332T>G	NP_001316073.1:n.1508-3332T>G
NM_001329145.1:c.1226-3332T>G	NP_001316074.1:n.1226-3332T>G
NM_001329146.1:c.1201T>G	NP_001316075.1:p.Ser401Ala
NM_001329148.1:c.1726T>G	NP_001316077.1:p.Ser576Ala
NM_001329149.1:c.1214-3332T>G	NP_001316078.1:n.1214-3332T>G
NM_001329150.1:c.959-3332T>G	NP_001316079.1:n.959-3332T>G
NM_001329964.1:c.1732T>G	NP_001316893.1:p.Ser578Ala
NM_003722.5:c.1738T>G MANE Select	NP_003713.3:p.Ser580Ala
NM_001114978.2:c.1652+1390T>G	NP_001108450.1:n.1652+1390T>G
NM_001114980.2:c.1456T>G MANE Plus Clinical	NP_001108452.1:p.Ser486Ala
NM_001114981.2:c.1370+1390T>G	NP_001108453.1:n.1370+1390T>G
NM_001329144.2:c.1508-3332T>G	NP_001316073.1:n.1508-3332T>G
NM_001329145.2:c.1226-3332T>G	NP_001316074.1:n.1226-3332T>G
NM_001329146.2:c.1201T>G	NP_001316075.1:p.Ser401Ala
NM_001329148.2:c.1726T>G	NP_001316077.1:p.Ser576Ala
NM_001329149.2:c.1214-3332T>G	NP_001316078.1:n.1214-3332T>G
NM_001329150.2:c.959-3332T>G	NP_001316079.1:n.959-3332T>G
NM_001329964.2:c.1732T>G	NP_001316893.1:p.Ser578Ala