Canonical Allele Identifier: CA514646414

Gene: EP300

Linked Data

• dbSNP Id: rs1200223003
• gnomAD v4: 22-41160705-C-T
• MyVariant Identifiers: chr22:g.41556709C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160705C>T , CM000684.2:g.41160705C>T	GRCh38
NC_000022.10:g.41556709C>T , CM000684.1:g.41556709C>T	GRCh37
NC_000022.9:g.39886655C>T	NCBI36
NG_009817.1:g.73096C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*1574C>T	ENSP00000515365.1:n.*1574C>T
ENST00000263253.9:c.3654C>T MANE Select	ENSP00000263253.7:p.Asp1218=
ENST00000674155.1:c.3576C>T	ENSP00000501078.1:p.Asp1192=
ENST00000263253.8:c.3654C>T	ENSP00000263253.7:p.Asp1218=
NM_001429.3:c.3654C>T	NP_001420.2:p.Asp1218=
XM_006724165.2:c.3576C>T	XP_006724228.1:p.Asp1192=
NM_001362843.1:c.3576C>T	NP_001349772.1:p.Asp1192=
NM_001429.4:c.3654C>T MANE Select	NP_001420.2:p.Asp1218=
NM_001362843.2:c.3576C>T	NP_001349772.1:p.Asp1192=