Canonical Allele Identifier: CA10252768

Gene: EP300

Linked Data

• dbSNP Id: rs755152564
• ExAC: 22:41543876 C / T
• gnomAD v4: 22-41147872-C-T
• MyVariant Identifiers: chr22:g.41543876C>T (hg19) ; chr22:g.41147872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147872C>T , CM000684.2:g.41147872C>T	GRCh38
NC_000022.10:g.41543876C>T , CM000684.1:g.41543876C>T	GRCh37
NC_000022.9:g.39873822C>T	NCBI36
NG_009817.1:g.60263C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*87C>T	ENSP00000515365.1:n.*87C>T
ENST00000703545.1:c.1957C>T
ENST00000263253.9:c.2167C>T MANE Select	ENSP00000263253.7:p.Pro723Ser
ENST00000674155.1:c.2089C>T	ENSP00000501078.1:p.Pro697Ser
ENST00000263253.8:c.2167C>T	ENSP00000263253.7:p.Pro723Ser
ENST00000634728.1:c.211C>T	ENSP00000488981.1:p.Pro71Ser
ENST00000635538.1:n.300C>T
NM_001429.3:c.2167C>T	NP_001420.2:p.Pro723Ser
XM_006724165.2:c.2089C>T	XP_006724228.1:p.Pro697Ser
NM_001362843.1:c.2089C>T	NP_001349772.1:p.Pro697Ser
NM_001429.4:c.2167C>T MANE Select	NP_001420.2:p.Pro723Ser
NM_001362843.2:c.2089C>T	NP_001349772.1:p.Pro697Ser