Canonical Allele Identifier: CA411696375

Gene: EP300

Linked Data

• dbSNP Id: rs2145752416
• gnomAD v4: 22-41160672-G-T
• MyVariant Identifiers: chr22:g.41556676G>T (hg19) ; chr22:g.41160672G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160672G>T , CM000684.2:g.41160672G>T	GRCh38
NC_000022.10:g.41556676G>T , CM000684.1:g.41556676G>T	GRCh37
NC_000022.9:g.39886622G>T	NCBI36
NG_009817.1:g.73063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1541G>T	ENSP00000515365.1:n.*1541G>T
ENST00000263253.9:c.3621G>T MANE Select	ENSP00000263253.7:p.Glu1207Asp
ENST00000674155.1:c.3543G>T	ENSP00000501078.1:p.Glu1181Asp
ENST00000263253.8:c.3621G>T	ENSP00000263253.7:p.Glu1207Asp
NM_001429.3:c.3621G>T	NP_001420.2:p.Glu1207Asp
XM_006724165.2:c.3543G>T	XP_006724228.1:p.Glu1181Asp
NM_001362843.1:c.3543G>T	NP_001349772.1:p.Glu1181Asp
NM_001429.4:c.3621G>T MANE Select	NP_001420.2:p.Glu1207Asp
NM_001362843.2:c.3543G>T	NP_001349772.1:p.Glu1181Asp