Canonical Allele Identifier: CA514646339

Gene: EP300

Linked Data

• dbSNP Id: rs1158403153
• gnomAD v2: 22-41556646-G-A
• gnomAD v4: 22-41160642-G-A
• MyVariant Identifiers: chr22:g.41556646G>A (hg19) ; chr22:g.41160642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160642G>A , CM000684.2:g.41160642G>A	GRCh38
NC_000022.10:g.41556646G>A , CM000684.1:g.41556646G>A	GRCh37
NC_000022.9:g.39886592G>A	NCBI36
NG_009817.1:g.73033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1511G>A	ENSP00000515365.1:n.*1511G>A
ENST00000263253.9:c.3591G>A MANE Select	ENSP00000263253.7:p.Arg1197=
ENST00000674155.1:c.3513G>A	ENSP00000501078.1:p.Arg1171=
ENST00000263253.8:c.3591G>A	ENSP00000263253.7:p.Arg1197=
NM_001429.3:c.3591G>A	NP_001420.2:p.Arg1197=
XM_006724165.2:c.3513G>A	XP_006724228.1:p.Arg1171=
NM_001362843.1:c.3513G>A	NP_001349772.1:p.Arg1171=
NM_001429.4:c.3591G>A MANE Select	NP_001420.2:p.Arg1197=
NM_001362843.2:c.3513G>A	NP_001349772.1:p.Arg1171=