Canonical Allele Identifier: CA411690031

Gene: EP300

Linked Data

• dbSNP Id: rs778286798
• MyVariant Identifiers: chr22:g.41543885G>C (hg19) ; chr22:g.41147881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147881G>C , CM000684.2:g.41147881G>C	GRCh38
NC_000022.10:g.41543885G>C , CM000684.1:g.41543885G>C	GRCh37
NC_000022.9:g.39873831G>C	NCBI36
NG_009817.1:g.60272G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*96G>C	ENSP00000515365.1:n.*96G>C
ENST00000703545.1:c.1966G>C
ENST00000263253.9:c.2176G>C MANE Select	ENSP00000263253.7:p.Val726Leu
ENST00000674155.1:c.2098G>C	ENSP00000501078.1:p.Val700Leu
ENST00000263253.8:c.2176G>C	ENSP00000263253.7:p.Val726Leu
ENST00000634728.1:c.220G>C	ENSP00000488981.1:p.Val74Leu
ENST00000635538.1:n.309G>C
NM_001429.3:c.2176G>C	NP_001420.2:p.Val726Leu
XM_006724165.2:c.2098G>C	XP_006724228.1:p.Val700Leu
NM_001362843.1:c.2098G>C	NP_001349772.1:p.Val700Leu
NM_001429.4:c.2176G>C MANE Select	NP_001420.2:p.Val726Leu
NM_001362843.2:c.2098G>C	NP_001349772.1:p.Val700Leu