Canonical Allele Identifier: CA411689997

Gene: EP300

Linked Data

• MyVariant Identifiers: chr22:g.41543873C>G (hg19) ; chr22:g.41147869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147869C>G , CM000684.2:g.41147869C>G	GRCh38
NC_000022.10:g.41543873C>G , CM000684.1:g.41543873C>G	GRCh37
NC_000022.9:g.39873819C>G	NCBI36
NG_009817.1:g.60260C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*84C>G	ENSP00000515365.1:n.*84C>G
ENST00000703545.1:c.1954C>G
ENST00000263253.9:c.2164C>G MANE Select	ENSP00000263253.7:p.Gln722Glu
ENST00000674155.1:c.2086C>G	ENSP00000501078.1:p.Gln696Glu
ENST00000263253.8:c.2164C>G	ENSP00000263253.7:p.Gln722Glu
ENST00000634728.1:c.208C>G	ENSP00000488981.1:p.Gln70Glu
ENST00000635538.1:n.297C>G
NM_001429.3:c.2164C>G	NP_001420.2:p.Gln722Glu
XM_006724165.2:c.2086C>G	XP_006724228.1:p.Gln696Glu
NM_001362843.1:c.2086C>G	NP_001349772.1:p.Gln696Glu
NM_001429.4:c.2164C>G MANE Select	NP_001420.2:p.Gln722Glu
NM_001362843.2:c.2086C>G	NP_001349772.1:p.Gln696Glu