Canonical Allele Identifier: CA10252197

Gene: EP300

Linked Data

• ClinVar Variation Id: 341774
• ClinVar RCV Id: RCV002520047 ; RCV003910342
• dbSNP Id: rs147566983
• ExAC: 22:41513253 T / C
• gnomAD v2: 22-41513253-T-C
• gnomAD v3: 22-41117249-T-C
• gnomAD v4: 22-41117249-T-C
• MyVariant Identifiers: chr22:g.41513253T>C (hg19) ; chr22:g.41117249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41117249T>C , CM000684.2:g.41117249T>C	GRCh38
NC_000022.10:g.41513253T>C , CM000684.1:g.41513253T>C	GRCh37
NC_000022.9:g.39843199T>C	NCBI36
NG_009817.1:g.29640T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.157T>C	ENSP00000515365.1:p.Leu53=
ENST00000703545.1:c.41T>C
ENST00000263253.9:c.157T>C MANE Select	ENSP00000263253.7:p.Leu53=
ENST00000674155.1:c.157T>C	ENSP00000501078.1:p.Leu53=
ENST00000263253.8:c.157T>C	ENSP00000263253.7:p.Leu53=
NM_001429.3:c.157T>C	NP_001420.2:p.Leu53=
XM_006724165.2:c.157T>C	XP_006724228.1:p.Leu53=
NM_001362843.1:c.157T>C	NP_001349772.1:p.Leu53=
NM_001429.4:c.157T>C MANE Select	NP_001420.2:p.Leu53=
NM_001362843.2:c.157T>C	NP_001349772.1:p.Leu53=