Canonical Allele Identifier: CA10253326

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41168721G>A , CM000684.2:g.41168721G>A	GRCh38
NC_000022.10:g.41564725G>A , CM000684.1:g.41564725G>A	GRCh37
NC_000022.9:g.39894671G>A	NCBI36
NG_009817.1:g.81112G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.4026G>A MANE Select	NP_001420.2:p.Arg1342=
ENST00000263253.9:c.4026G>A MANE Select	ENSP00000263253.7:p.Arg1342=
NM_001362843.1:c.3948G>A	NP_001349772.1:p.Arg1316=
NM_001362843.2:c.3948G>A	NP_001349772.1:p.Arg1316=
NM_001429.3:c.4026G>A	NP_001420.2:p.Arg1342=
ENST00000263253.8:c.4026G>A	ENSP00000263253.7:p.Arg1342=
ENST00000635584.1:n.351G>A
ENST00000674155.1:c.3948G>A	ENSP00000501078.1:p.Arg1316=
ENST00000703544.1:c.*1946G>A	ENSP00000515365.1:n.*1946G>A
XM_006724165.2:c.3948G>A	XP_006724228.1:p.Arg1316=