Canonical Allele Identifier: CA411696671

Gene: EP300

Linked Data

• dbSNP Id: rs2145752601
• MyVariant Identifiers: chr22:g.41556725A>T (hg19) ; chr22:g.41160721A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160721A>T , CM000684.2:g.41160721A>T	GRCh38
NC_000022.10:g.41556725A>T , CM000684.1:g.41556725A>T	GRCh37
NC_000022.9:g.39886671A>T	NCBI36
NG_009817.1:g.73112A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1590A>T	ENSP00000515365.1:n.*1590A>T
ENST00000263253.9:c.3670A>T MANE Select	ENSP00000263253.7:p.Thr1224Ser
ENST00000674155.1:c.3592A>T	ENSP00000501078.1:p.Thr1198Ser
ENST00000263253.8:c.3670A>T	ENSP00000263253.7:p.Thr1224Ser
NM_001429.3:c.3670A>T	NP_001420.2:p.Thr1224Ser
XM_006724165.2:c.3592A>T	XP_006724228.1:p.Thr1198Ser
NM_001362843.1:c.3592A>T	NP_001349772.1:p.Thr1198Ser
NM_001429.4:c.3670A>T MANE Select	NP_001420.2:p.Thr1224Ser
NM_001362843.2:c.3592A>T	NP_001349772.1:p.Thr1198Ser