Canonical Allele Identifier: CA514640180

Gene: EP300

Linked Data

• dbSNP Id: rs2145734115
• gnomAD v4: 22-41147868-C-A
• MyVariant Identifiers: chr22:g.41543872C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147868C>A , CM000684.2:g.41147868C>A	GRCh38
NC_000022.10:g.41543872C>A , CM000684.1:g.41543872C>A	GRCh37
NC_000022.9:g.39873818C>A	NCBI36
NG_009817.1:g.60259C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*83C>A	ENSP00000515365.1:n.*83C>A
ENST00000703545.1:c.1953C>A
ENST00000263253.9:c.2163C>A MANE Select	ENSP00000263253.7:p.Ala721=
ENST00000674155.1:c.2085C>A	ENSP00000501078.1:p.Ala695=
ENST00000263253.8:c.2163C>A	ENSP00000263253.7:p.Ala721=
ENST00000634728.1:c.207C>A	ENSP00000488981.1:p.Ala69=
ENST00000635538.1:n.296C>A
NM_001429.3:c.2163C>A	NP_001420.2:p.Ala721=
XM_006724165.2:c.2085C>A	XP_006724228.1:p.Ala695=
NM_001362843.1:c.2085C>A	NP_001349772.1:p.Ala695=
NM_001429.4:c.2163C>A MANE Select	NP_001420.2:p.Ala721=
NM_001362843.2:c.2085C>A	NP_001349772.1:p.Ala695=