Canonical Allele Identifier: CA2406117754
Community Standard Title: NM_001429.4(EP300):c.4783T= (p.Phe1595=)
Gene: EP300 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41176250T= , CM000684.2:g.41176250T= GRCh38
NC_000022.10:g.41572254T= , CM000684.1:g.41572254T= GRCh37
NC_000022.9:g.39902200T= NCBI36
NG_009817.1:g.88641T=

Transcript Alleles

HGVS Amino-acid Change
NM_001429.4:c.4783T= MANE Select NP_001420.2:p.Phe1595=
ENST00000263253.9:c.4783T= MANE Select ENSP00000263253.7:p.Phe1595=
NM_001362843.1:c.4705T= NP_001349772.1:p.Phe1569=
NM_001362843.2:c.4705T= NP_001349772.1:p.Phe1569=
NM_001429.3:c.4783T= NP_001420.2:p.Phe1595=
ENST00000263253.8:c.4783T= ENSP00000263253.7:p.Phe1595=
ENST00000635083.1:n.192T=
ENST00000674155.1:c.4705T= ENSP00000501078.1:p.Phe1569=
ENST00000703544.1:c.*2703T= ENSP00000515365.1:n.*2703T=
XM_006724165.2:c.4705T= XP_006724228.1:p.Phe1569=