Canonical Allele Identifier: CA10252561

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41135892C>A , CM000684.2:g.41135892C>A	GRCh38
NC_000022.10:g.41531896C>A , CM000684.1:g.41531896C>A	GRCh37
NC_000022.9:g.39861842C>A	NCBI36
NG_009817.1:g.48283C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.1608C>A MANE Select	NP_001420.2:p.Ala536=
ENST00000263253.9:c.1608C>A MANE Select	ENSP00000263253.7:p.Ala536=
NM_001362843.1:c.1608C>A	NP_001349772.1:p.Ala536=
NM_001362843.2:c.1608C>A	NP_001349772.1:p.Ala536=
NM_001429.3:c.1608C>A	NP_001420.2:p.Ala536=
ENST00000263253.8:c.1608C>A	ENSP00000263253.7:p.Ala536=
ENST00000634690.1:c.181C>A
ENST00000674155.1:c.1608C>A	ENSP00000501078.1:p.Ala536=
ENST00000703544.1:c.1608C>A	ENSP00000515365.1:p.Ala536=
ENST00000703545.1:c.1413-1761C>A
XM_006724165.2:c.1608C>A	XP_006724228.1:p.Ala536=