Canonical Allele Identifier: CA275975

Gene: EP300

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41158483T>A , CM000684.2:g.41158483T>A	GRCh38
NC_000022.10:g.41554487T>A , CM000684.1:g.41554487T>A	GRCh37
NC_000022.9:g.39884433T>A	NCBI36
NG_009817.1:g.70874T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1493T>A	ENSP00000515365.1:n.*1493T>A
ENST00000703545.1:c.3363T>A
ENST00000263253.9:c.3573T>A MANE Select	ENSP00000263253.7:p.Tyr1191Ter
ENST00000674155.1:c.3495T>A	ENSP00000501078.1:p.Tyr1165Ter
ENST00000263253.8:c.3573T>A	ENSP00000263253.7:p.Tyr1191Ter
ENST00000635552.1:n.16T>A
ENST00000635691.1:n.281T>A
NM_001429.3:c.3573T>A	NP_001420.2:p.Tyr1191Ter
XM_006724165.2:c.3495T>A	XP_006724228.1:p.Tyr1165Ter
NM_001362843.1:c.3495T>A	NP_001349772.1:p.Tyr1165Ter
NM_001429.4:c.3573T>A MANE Select	NP_001420.2:p.Tyr1191Ter
NM_001362843.2:c.3495T>A	NP_001349772.1:p.Tyr1165Ter