Canonical Allele Identifier: CA411692884

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41151908C>T , CM000684.2:g.41151908C>T	GRCh38
NC_000022.10:g.41547912C>T , CM000684.1:g.41547912C>T	GRCh37
NC_000022.9:g.39877858C>T	NCBI36
NG_009817.1:g.64299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*813C>T	ENSP00000515365.1:n.*813C>T
ENST00000703545.1:c.2683C>T
ENST00000263253.9:c.2893C>T MANE Select	ENSP00000263253.7:p.Gln965Ter
ENST00000674155.1:c.2815C>T	ENSP00000501078.1:p.Gln939Ter
ENST00000263253.8:c.2893C>T	ENSP00000263253.7:p.Gln965Ter
NM_001429.3:c.2893C>T	NP_001420.2:p.Gln965Ter
XM_006724165.2:c.2815C>T	XP_006724228.1:p.Gln939Ter
NM_001362843.1:c.2815C>T	NP_001349772.1:p.Gln939Ter
NM_001429.4:c.2893C>T MANE Select	NP_001420.2:p.Gln965Ter
NM_001362843.2:c.2815C>T	NP_001349772.1:p.Gln939Ter