Canonical Allele Identifier: CA10253175

Gene: EP300

Linked Data

• dbSNP Id: rs771166857
• ExAC: 22:41556713 T / C
• gnomAD v2: 22-41556713-T-C
• MyVariant Identifiers: chr22:g.41556713T>C (hg19) ; chr22:g.41160709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160709T>C , CM000684.2:g.41160709T>C	GRCh38
NC_000022.10:g.41556713T>C , CM000684.1:g.41556713T>C	GRCh37
NC_000022.9:g.39886659T>C	NCBI36
NG_009817.1:g.73100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1578T>C	ENSP00000515365.1:n.*1578T>C
ENST00000263253.9:c.3658T>C MANE Select	ENSP00000263253.7:p.Ser1220Pro
ENST00000674155.1:c.3580T>C	ENSP00000501078.1:p.Ser1194Pro
ENST00000263253.8:c.3658T>C	ENSP00000263253.7:p.Ser1220Pro
NM_001429.3:c.3658T>C	NP_001420.2:p.Ser1220Pro
XM_006724165.2:c.3580T>C	XP_006724228.1:p.Ser1194Pro
NM_001362843.1:c.3580T>C	NP_001349772.1:p.Ser1194Pro
NM_001429.4:c.3658T>C MANE Select	NP_001420.2:p.Ser1220Pro
NM_001362843.2:c.3580T>C	NP_001349772.1:p.Ser1194Pro