Canonical Allele Identifier: CA514646410

Gene: EP300

Linked Data

• dbSNP Id: rs2145752525
• MyVariant Identifiers: chr22:g.41556706T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160702T>C , CM000684.2:g.41160702T>C	GRCh38
NC_000022.10:g.41556706T>C , CM000684.1:g.41556706T>C	GRCh37
NC_000022.9:g.39886652T>C	NCBI36
NG_009817.1:g.73093T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*1571T>C	ENSP00000515365.1:n.*1571T>C
ENST00000263253.9:c.3651T>C MANE Select	ENSP00000263253.7:p.Asp1217=
ENST00000674155.1:c.3573T>C	ENSP00000501078.1:p.Asp1191=
ENST00000263253.8:c.3651T>C	ENSP00000263253.7:p.Asp1217=
NM_001429.3:c.3651T>C	NP_001420.2:p.Asp1217=
XM_006724165.2:c.3573T>C	XP_006724228.1:p.Asp1191=
NM_001362843.1:c.3573T>C	NP_001349772.1:p.Asp1191=
NM_001429.4:c.3651T>C MANE Select	NP_001420.2:p.Asp1217=
NM_001362843.2:c.3573T>C	NP_001349772.1:p.Asp1191=