Canonical Allele Identifier: CA411696233

Gene: EP300

Linked Data

• dbSNP Id: rs2145752342
• COSMIC: COSM5945458
• MyVariant Identifiers: chr22:g.41556656T>C (hg19) ; chr22:g.41160652T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160652T>C , CM000684.2:g.41160652T>C	GRCh38
NC_000022.10:g.41556656T>C , CM000684.1:g.41556656T>C	GRCh37
NC_000022.9:g.39886602T>C	NCBI36
NG_009817.1:g.73043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1521T>C	ENSP00000515365.1:n.*1521T>C
ENST00000263253.9:c.3601T>C MANE Select	ENSP00000263253.7:p.Cys1201Arg
ENST00000674155.1:c.3523T>C	ENSP00000501078.1:p.Cys1175Arg
ENST00000263253.8:c.3601T>C	ENSP00000263253.7:p.Cys1201Arg
NM_001429.3:c.3601T>C	NP_001420.2:p.Cys1201Arg
XM_006724165.2:c.3523T>C	XP_006724228.1:p.Cys1175Arg
NM_001362843.1:c.3523T>C	NP_001349772.1:p.Cys1175Arg
NM_001429.4:c.3601T>C MANE Select	NP_001420.2:p.Cys1201Arg
NM_001362843.2:c.3523T>C	NP_001349772.1:p.Cys1175Arg