Canonical Allele Identifier: CA411690032

Gene: EP300

Linked Data

• dbSNP Id: rs778286798
• MyVariant Identifiers: chr22:g.41543885G>A (hg19) ; chr22:g.41147881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147881G>A , CM000684.2:g.41147881G>A	GRCh38
NC_000022.10:g.41543885G>A , CM000684.1:g.41543885G>A	GRCh37
NC_000022.9:g.39873831G>A	NCBI36
NG_009817.1:g.60272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*96G>A	ENSP00000515365.1:n.*96G>A
ENST00000703545.1:c.1966G>A
ENST00000263253.9:c.2176G>A MANE Select	ENSP00000263253.7:p.Val726Ile
ENST00000674155.1:c.2098G>A	ENSP00000501078.1:p.Val700Ile
ENST00000263253.8:c.2176G>A	ENSP00000263253.7:p.Val726Ile
ENST00000634728.1:c.220G>A	ENSP00000488981.1:p.Val74Ile
ENST00000635538.1:n.309G>A
NM_001429.3:c.2176G>A	NP_001420.2:p.Val726Ile
XM_006724165.2:c.2098G>A	XP_006724228.1:p.Val700Ile
NM_001362843.1:c.2098G>A	NP_001349772.1:p.Val700Ile
NM_001429.4:c.2176G>A MANE Select	NP_001420.2:p.Val726Ile
NM_001362843.2:c.2098G>A	NP_001349772.1:p.Val700Ile