Canonical Allele Identifier: CA2656909459

Gene: EP300

Linked Data

• gnomAD v4: 22-41160553-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160553G>T , CM000684.2:g.41160553G>T	GRCh38
NC_000022.10:g.41556557G>T , CM000684.1:g.41556557G>T	GRCh37
NC_000022.9:g.39886503G>T	NCBI36
NG_009817.1:g.72944G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1511-89G>T	ENSP00000515365.1:n.*1511-89G>T
ENST00000263253.9:c.3591-89G>T MANE Select	ENSP00000263253.7:n.3591-89G>T
ENST00000674155.1:c.3513-89G>T	ENSP00000501078.1:n.3513-89G>T
ENST00000263253.8:c.3591-89G>T	ENSP00000263253.7:n.3591-89G>T
NM_001429.3:c.3591-89G>T	NP_001420.2:n.3591-89G>T
XM_006724165.2:c.3513-89G>T	XP_006724228.1:n.3513-89G>T
NM_001362843.1:c.3513-89G>T	NP_001349772.1:n.3513-89G>T
NM_001429.4:c.3591-89G>T MANE Select	NP_001420.2:n.3591-89G>T
NM_001362843.2:c.3513-89G>T	NP_001349772.1:n.3513-89G>T