Canonical Allele Identifier: CA514640246

Gene: EP300

Linked Data

• gnomAD v4: 22-41147877-T-A
• MyVariant Identifiers: chr22:g.41543881T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147877T>A , CM000684.2:g.41147877T>A	GRCh38
NC_000022.10:g.41543881T>A , CM000684.1:g.41543881T>A	GRCh37
NC_000022.9:g.39873827T>A	NCBI36
NG_009817.1:g.60268T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*92T>A	ENSP00000515365.1:n.*92T>A
ENST00000703545.1:c.1962T>A
ENST00000263253.9:c.2172T>A MANE Select	ENSP00000263253.7:p.Pro724=
ENST00000674155.1:c.2094T>A	ENSP00000501078.1:p.Pro698=
ENST00000263253.8:c.2172T>A	ENSP00000263253.7:p.Pro724=
ENST00000634728.1:c.216T>A	ENSP00000488981.1:p.Pro72=
ENST00000635538.1:n.305T>A
NM_001429.3:c.2172T>A	NP_001420.2:p.Pro724=
XM_006724165.2:c.2094T>A	XP_006724228.1:p.Pro698=
NM_001362843.1:c.2094T>A	NP_001349772.1:p.Pro698=
NM_001429.4:c.2172T>A MANE Select	NP_001420.2:p.Pro724=
NM_001362843.2:c.2094T>A	NP_001349772.1:p.Pro698=