Canonical Allele Identifier: CA411696548

Gene: EP300

Linked Data

• dbSNP Id: rs2145752519
• MyVariant Identifiers: chr22:g.41556705A>G (hg19) ; chr22:g.41160701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160701A>G , CM000684.2:g.41160701A>G	GRCh38
NC_000022.10:g.41556705A>G , CM000684.1:g.41556705A>G	GRCh37
NC_000022.9:g.39886651A>G	NCBI36
NG_009817.1:g.73092A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*1570A>G	ENSP00000515365.1:n.*1570A>G
ENST00000263253.9:c.3650A>G MANE Select	ENSP00000263253.7:p.Asp1217Gly
ENST00000674155.1:c.3572A>G	ENSP00000501078.1:p.Asp1191Gly
ENST00000263253.8:c.3650A>G	ENSP00000263253.7:p.Asp1217Gly
NM_001429.3:c.3650A>G	NP_001420.2:p.Asp1217Gly
XM_006724165.2:c.3572A>G	XP_006724228.1:p.Asp1191Gly
NM_001362843.1:c.3572A>G	NP_001349772.1:p.Asp1191Gly
NM_001429.4:c.3650A>G MANE Select	NP_001420.2:p.Asp1217Gly
NM_001362843.2:c.3572A>G	NP_001349772.1:p.Asp1191Gly