Canonical Allele Identifier: CA411696210

Gene: EP300

Linked Data

• dbSNP Id: rs2145752331
• MyVariant Identifiers: chr22:g.41556652T>A (hg19) ; chr22:g.41160648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160648T>A , CM000684.2:g.41160648T>A	GRCh38
NC_000022.10:g.41556652T>A , CM000684.1:g.41556652T>A	GRCh37
NC_000022.9:g.39886598T>A	NCBI36
NG_009817.1:g.73039T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1517T>A	ENSP00000515365.1:n.*1517T>A
ENST00000263253.9:c.3597T>A MANE Select	ENSP00000263253.7:p.His1199Gln
ENST00000674155.1:c.3519T>A	ENSP00000501078.1:p.His1173Gln
ENST00000263253.8:c.3597T>A	ENSP00000263253.7:p.His1199Gln
NM_001429.3:c.3597T>A	NP_001420.2:p.His1199Gln
XM_006724165.2:c.3519T>A	XP_006724228.1:p.His1173Gln
NM_001362843.1:c.3519T>A	NP_001349772.1:p.His1173Gln
NM_001429.4:c.3597T>A MANE Select	NP_001420.2:p.His1199Gln
NM_001362843.2:c.3519T>A	NP_001349772.1:p.His1173Gln