Canonical Allele Identifier: CA514644458

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41152346A>G , CM000684.2:g.41152346A>G	GRCh38
NC_000022.10:g.41548350A>G , CM000684.1:g.41548350A>G	GRCh37
NC_000022.9:g.39878296A>G	NCBI36
NG_009817.1:g.64737A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.3138A>G MANE Select	NP_001420.2:p.Lys1046=
ENST00000263253.9:c.3138A>G MANE Select	ENSP00000263253.7:p.Lys1046=
NM_001362843.1:c.3060A>G	NP_001349772.1:p.Lys1020=
NM_001362843.2:c.3060A>G	NP_001349772.1:p.Lys1020=
NM_001429.3:c.3138A>G	NP_001420.2:p.Lys1046=
ENST00000263253.8:c.3138A>G	ENSP00000263253.7:p.Lys1046=
ENST00000674155.1:c.3060A>G	ENSP00000501078.1:p.Lys1020=
ENST00000703544.1:c.*1058A>G	ENSP00000515365.1:n.*1058A>G
ENST00000703545.1:c.2928A>G
XM_006724165.2:c.3060A>G	XP_006724228.1:p.Lys1020=