Canonical Allele Identifier: CA2577728843

Gene: EP300

Linked Data

• dbSNP Id: rs781506517
• gnomAD v4: 22-41147790-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147790C>T , CM000684.2:g.41147790C>T	GRCh38
NC_000022.10:g.41543794C>T , CM000684.1:g.41543794C>T	GRCh37
NC_000022.9:g.39873740C>T	NCBI36
NG_009817.1:g.60181C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*52-47C>T	ENSP00000515365.1:n.*52-47C>T
ENST00000703545.1:c.1922-47C>T
ENST00000263253.9:c.2132-47C>T MANE Select	ENSP00000263253.7:n.2132-47C>T
ENST00000674155.1:c.2054-47C>T	ENSP00000501078.1:n.2054-47C>T
ENST00000263253.8:c.2132-47C>T	ENSP00000263253.7:n.2132-47C>T
ENST00000634728.1:c.176-47C>T	ENSP00000488981.1:n.176-47C>T
ENST00000635538.1:n.265-47C>T
NM_001429.3:c.2132-47C>T	NP_001420.2:n.2132-47C>T
XM_006724165.2:c.2054-47C>T	XP_006724228.1:n.2054-47C>T
NM_001362843.1:c.2054-47C>T	NP_001349772.1:n.2054-47C>T
NM_001429.4:c.2132-47C>T MANE Select	NP_001420.2:n.2132-47C>T
NM_001362843.2:c.2054-47C>T	NP_001349772.1:n.2054-47C>T