Canonical Allele Identifier: CA411696573

Gene: EP300

Linked Data

• dbSNP Id: rs1200223003
• gnomAD v2: 22-41556709-C-A
• gnomAD v4: 22-41160705-C-A
• MyVariant Identifiers: chr22:g.41556709C>A (hg19) ; chr22:g.41160705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160705C>A , CM000684.2:g.41160705C>A	GRCh38
NC_000022.10:g.41556709C>A , CM000684.1:g.41556709C>A	GRCh37
NC_000022.9:g.39886655C>A	NCBI36
NG_009817.1:g.73096C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*1574C>A	ENSP00000515365.1:n.*1574C>A
ENST00000263253.9:c.3654C>A MANE Select	ENSP00000263253.7:p.Asp1218Glu
ENST00000674155.1:c.3576C>A	ENSP00000501078.1:p.Asp1192Glu
ENST00000263253.8:c.3654C>A	ENSP00000263253.7:p.Asp1218Glu
NM_001429.3:c.3654C>A	NP_001420.2:p.Asp1218Glu
XM_006724165.2:c.3576C>A	XP_006724228.1:p.Asp1192Glu
NM_001362843.1:c.3576C>A	NP_001349772.1:p.Asp1192Glu
NM_001429.4:c.3654C>A MANE Select	NP_001420.2:p.Asp1218Glu
NM_001362843.2:c.3576C>A	NP_001349772.1:p.Asp1192Glu