Canonical Allele Identifier: CA411696676

Gene: EP300

Linked Data

• dbSNP Id: rs2145752607
• gnomAD v4: 22-41160722-C-G
• MyVariant Identifiers: chr22:g.41556726C>G (hg19) ; chr22:g.41160722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160722C>G , CM000684.2:g.41160722C>G	GRCh38
NC_000022.10:g.41556726C>G , CM000684.1:g.41556726C>G	GRCh37
NC_000022.9:g.39886672C>G	NCBI36
NG_009817.1:g.73113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1591C>G	ENSP00000515365.1:n.*1591C>G
ENST00000263253.9:c.3671C>G MANE Select	ENSP00000263253.7:p.Thr1224Ser
ENST00000674155.1:c.3593C>G	ENSP00000501078.1:p.Thr1198Ser
ENST00000263253.8:c.3671C>G	ENSP00000263253.7:p.Thr1224Ser
NM_001429.3:c.3671C>G	NP_001420.2:p.Thr1224Ser
XM_006724165.2:c.3593C>G	XP_006724228.1:p.Thr1198Ser
NM_001362843.1:c.3593C>G	NP_001349772.1:p.Thr1198Ser
NM_001429.4:c.3671C>G MANE Select	NP_001420.2:p.Thr1224Ser
NM_001362843.2:c.3593C>G	NP_001349772.1:p.Thr1198Ser