Canonical Allele Identifier: CA411694508
Gene: EP300 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41157167A>G , CM000684.2:g.41157167A>G GRCh38
NC_000022.10:g.41553171A>G , CM000684.1:g.41553171A>G GRCh37
NC_000022.9:g.39883117A>G NCBI36
NG_009817.1:g.69558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703544.1:c.*1182-2A>G ENSP00000515365.1:n.*1182-2A>G
ENST00000703545.1:c.3052-2A>G
ENST00000263253.9:c.3262-2A>G MANE Select ENSP00000263253.7:n.3262-2A>G
ENST00000674155.1:c.3184-2A>G ENSP00000501078.1:n.3184-2A>G
ENST00000263253.8:c.3262-2A>G ENSP00000263253.7:n.3262-2A>G
NM_001429.3:c.3262-2A>G NP_001420.2:n.3262-2A>G
XM_006724165.2:c.3184-2A>G XP_006724228.1:n.3184-2A>G
NM_001362843.1:c.3184-2A>G NP_001349772.1:n.3184-2A>G
NM_001429.4:c.3262-2A>G MANE Select NP_001420.2:n.3262-2A>G
NM_001362843.2:c.3184-2A>G NP_001349772.1:n.3184-2A>G