Canonical Allele Identifier: CA10253005

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41151997G>A , CM000684.2:g.41151997G>A	GRCh38
NC_000022.10:g.41548001G>A , CM000684.1:g.41548001G>A	GRCh37
NC_000022.9:g.39877947G>A	NCBI36
NG_009817.1:g.64388G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.2982G>A MANE Select	NP_001420.2:p.Pro994=
ENST00000263253.9:c.2982G>A MANE Select	ENSP00000263253.7:p.Pro994=
NM_001362843.1:c.2904G>A	NP_001349772.1:p.Pro968=
NM_001362843.2:c.2904G>A	NP_001349772.1:p.Pro968=
NM_001429.3:c.2982G>A	NP_001420.2:p.Pro994=
ENST00000263253.8:c.2982G>A	ENSP00000263253.7:p.Pro994=
ENST00000674155.1:c.2904G>A	ENSP00000501078.1:p.Pro968=
ENST00000703544.1:c.*902G>A	ENSP00000515365.1:n.*902G>A
ENST00000703545.1:c.2772G>A
XM_006724165.2:c.2904G>A	XP_006724228.1:p.Pro968=