Canonical Allele Identifier: CA411681627

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41117787G>C , CM000684.2:g.41117787G>C	GRCh38
NC_000022.10:g.41513791G>C , CM000684.1:g.41513791G>C	GRCh37
NC_000022.9:g.39843737G>C	NCBI36
NG_009817.1:g.30178G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.695G>C MANE Select	NP_001420.2:p.Gly232Ala
ENST00000263253.9:c.695G>C MANE Select	ENSP00000263253.7:p.Gly232Ala
NM_001362843.1:c.695G>C	NP_001349772.1:p.Gly232Ala
NM_001362843.2:c.695G>C	NP_001349772.1:p.Gly232Ala
NM_001429.3:c.695G>C	NP_001420.2:p.Gly232Ala
ENST00000263253.8:c.695G>C	ENSP00000263253.7:p.Gly232Ala
ENST00000634787.1:n.17G>C
ENST00000674155.1:c.695G>C	ENSP00000501078.1:p.Gly232Ala
ENST00000703544.1:c.695G>C	ENSP00000515365.1:p.Gly232Ala
ENST00000703545.1:c.579G>C
XM_006724165.2:c.695G>C	XP_006724228.1:p.Gly232Ala