Canonical Allele Identifier: CA411697816

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41164073G>A , CM000684.2:g.41164073G>A	GRCh38
NC_000022.10:g.41560077G>A , CM000684.1:g.41560077G>A	GRCh37
NC_000022.9:g.39890023G>A	NCBI36
NG_009817.1:g.76464G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.3749G>A MANE Select	NP_001420.2:p.Cys1250Tyr
ENST00000263253.9:c.3749G>A MANE Select	ENSP00000263253.7:p.Cys1250Tyr
NM_001362843.1:c.3671G>A	NP_001349772.1:p.Cys1224Tyr
NM_001362843.2:c.3671G>A	NP_001349772.1:p.Cys1224Tyr
NM_001429.3:c.3749G>A	NP_001420.2:p.Cys1250Tyr
ENST00000263253.8:c.3749G>A	ENSP00000263253.7:p.Cys1250Tyr
ENST00000635584.1:n.74G>A
ENST00000674155.1:c.3671G>A	ENSP00000501078.1:p.Cys1224Tyr
ENST00000703544.1:c.*1669G>A	ENSP00000515365.1:n.*1669G>A
XM_006724165.2:c.3671G>A	XP_006724228.1:p.Cys1224Tyr