Canonical Allele Identifier: CA16043571

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41141226A>T , CM000684.2:g.41141226A>T	GRCh38
NC_000022.10:g.41537230A>T , CM000684.1:g.41537230A>T	GRCh37
NC_000022.9:g.39867176A>T	NCBI36
NG_009817.1:g.53617A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.2053+4A>T MANE Select	NP_001420.2:n.2053+4A>T
ENST00000263253.9:c.2053+4A>T MANE Select	ENSP00000263253.7:n.2053+4A>T
NM_001362843.1:c.2053+4A>T	NP_001349772.1:n.2053+4A>T
NM_001362843.2:c.2053+4A>T	NP_001349772.1:n.2053+4A>T
NM_001429.3:c.2053+4A>T	NP_001420.2:n.2053+4A>T
ENST00000263253.8:c.2053+4A>T	ENSP00000263253.7:n.2053+4A>T
ENST00000634690.1:c.488+4A>T
ENST00000634728.1:c.175+4A>T	ENSP00000488981.1:n.175+4A>T
ENST00000674155.1:c.2053+4A>T	ENSP00000501078.1:n.2053+4A>T
ENST00000703544.1:c.1878+969A>T	ENSP00000515365.1:n.1878+969A>T
ENST00000703545.1:c.1843+4A>T
XM_006724165.2:c.2053+4A>T	XP_006724228.1:n.2053+4A>T