Canonical Allele Identifier: CA411696538

Gene: EP300

Linked Data

• ClinVar Variation Id: 427031
• ClinVar RCV Id: RCV000489263
• dbSNP Id: rs1085307911
• MyVariant Identifiers: chr22:g.41556704G>A (hg19) ; chr22:g.41160700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160700G>A , CM000684.2:g.41160700G>A	GRCh38
NC_000022.10:g.41556704G>A , CM000684.1:g.41556704G>A	GRCh37
NC_000022.9:g.39886650G>A	NCBI36
NG_009817.1:g.73091G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*1569G>A	ENSP00000515365.1:n.*1569G>A
ENST00000263253.9:c.3649G>A MANE Select	ENSP00000263253.7:p.Asp1217Asn
ENST00000674155.1:c.3571G>A	ENSP00000501078.1:p.Asp1191Asn
ENST00000263253.8:c.3649G>A	ENSP00000263253.7:p.Asp1217Asn
NM_001429.3:c.3649G>A	NP_001420.2:p.Asp1217Asn
XM_006724165.2:c.3571G>A	XP_006724228.1:p.Asp1191Asn
NM_001362843.1:c.3571G>A	NP_001349772.1:p.Asp1191Asn
NM_001429.4:c.3649G>A MANE Select	NP_001420.2:p.Asp1217Asn
NM_001362843.2:c.3571G>A	NP_001349772.1:p.Asp1191Asn