Canonical Allele Identifier: CA16602840

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41169525G>T , CM000684.2:g.41169525G>T	GRCh38
NC_000022.10:g.41565529G>T , CM000684.1:g.41565529G>T	GRCh37
NC_000022.9:g.39895475G>T	NCBI36
NG_009817.1:g.81916G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.4195G>T MANE Select	NP_001420.2:p.Asp1399Tyr
ENST00000263253.9:c.4195G>T MANE Select	ENSP00000263253.7:p.Asp1399Tyr
NM_001362843.1:c.4117G>T	NP_001349772.1:p.Asp1373Tyr
NM_001362843.2:c.4117G>T	NP_001349772.1:p.Asp1373Tyr
NM_001429.3:c.4195G>T	NP_001420.2:p.Asp1399Tyr
ENST00000263253.8:c.4195G>T	ENSP00000263253.7:p.Asp1399Tyr
ENST00000674155.1:c.4117G>T	ENSP00000501078.1:p.Asp1373Tyr
ENST00000703544.1:c.*2115G>T	ENSP00000515365.1:n.*2115G>T
XM_006724165.2:c.4117G>T	XP_006724228.1:p.Asp1373Tyr