Canonical Allele Identifier: CA271494

Gene: EP300

Linked Data

• ClinVar Variation Id: 158564
• ClinVar RCV Id: RCV000145956
• dbSNP Id: rs7285319
• MyVariant Identifiers: chr22:g.41556720C>A (hg19) ; chr22:g.41160716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160716C>A , CM000684.2:g.41160716C>A	GRCh38
NC_000022.10:g.41556720C>A , CM000684.1:g.41556720C>A	GRCh37
NC_000022.9:g.39886666C>A	NCBI36
NG_009817.1:g.73107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1585C>A	ENSP00000515365.1:n.*1585C>A
ENST00000263253.9:c.3665C>A MANE Select	ENSP00000263253.7:p.Pro1222His
ENST00000674155.1:c.3587C>A	ENSP00000501078.1:p.Pro1196His
ENST00000263253.8:c.3665C>A	ENSP00000263253.7:p.Pro1222His
NM_001429.3:c.3665C>A	NP_001420.2:p.Pro1222His
XM_006724165.2:c.3587C>A	XP_006724228.1:p.Pro1196His
NM_001362843.1:c.3587C>A	NP_001349772.1:p.Pro1196His
NM_001429.4:c.3665C>A MANE Select	NP_001420.2:p.Pro1222His
NM_001362843.2:c.3587C>A	NP_001349772.1:p.Pro1196His