Canonical Allele Identifier: CA10252751

Gene: EP300

Linked Data

• dbSNP Id: rs755419383
• ExAC: 22:41543792 T / C
• gnomAD v2: 22-41543792-T-C
• gnomAD v4: 22-41147788-T-C
• MyVariant Identifiers: chr22:g.41543792T>C (hg19) ; chr22:g.41147788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147788T>C , CM000684.2:g.41147788T>C	GRCh38
NC_000022.10:g.41543792T>C , CM000684.1:g.41543792T>C	GRCh37
NC_000022.9:g.39873738T>C	NCBI36
NG_009817.1:g.60179T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*52-49T>C	ENSP00000515365.1:n.*52-49T>C
ENST00000703545.1:c.1922-49T>C
ENST00000263253.9:c.2132-49T>C MANE Select	ENSP00000263253.7:n.2132-49T>C
ENST00000674155.1:c.2054-49T>C	ENSP00000501078.1:n.2054-49T>C
ENST00000263253.8:c.2132-49T>C	ENSP00000263253.7:n.2132-49T>C
ENST00000634728.1:c.176-49T>C	ENSP00000488981.1:n.176-49T>C
ENST00000635538.1:n.265-49T>C
NM_001429.3:c.2132-49T>C	NP_001420.2:n.2132-49T>C
XM_006724165.2:c.2054-49T>C	XP_006724228.1:n.2054-49T>C
NM_001362843.1:c.2054-49T>C	NP_001349772.1:n.2054-49T>C
NM_001429.4:c.2132-49T>C MANE Select	NP_001420.2:n.2132-49T>C
NM_001362843.2:c.2054-49T>C	NP_001349772.1:n.2054-49T>C