Canonical Allele Identifier: CA411696375
Gene: EP300 HGNC NCBI

Linked Data

dbSNP Id: rs2145752416

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