Canonical Allele Identifier: CA411690012

Gene: EP300

Linked Data

• dbSNP Id: rs2145734140
• MyVariant Identifiers: chr22:g.41543877C>T (hg19) ; chr22:g.41147873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147873C>T , CM000684.2:g.41147873C>T	GRCh38
NC_000022.10:g.41543877C>T , CM000684.1:g.41543877C>T	GRCh37
NC_000022.9:g.39873823C>T	NCBI36
NG_009817.1:g.60264C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*88C>T	ENSP00000515365.1:n.*88C>T
ENST00000703545.1:c.1958C>T
ENST00000263253.9:c.2168C>T MANE Select	ENSP00000263253.7:p.Pro723Leu
ENST00000674155.1:c.2090C>T	ENSP00000501078.1:p.Pro697Leu
ENST00000263253.8:c.2168C>T	ENSP00000263253.7:p.Pro723Leu
ENST00000634728.1:c.212C>T	ENSP00000488981.1:p.Pro71Leu
ENST00000635538.1:n.301C>T
NM_001429.3:c.2168C>T	NP_001420.2:p.Pro723Leu
XM_006724165.2:c.2090C>T	XP_006724228.1:p.Pro697Leu
NM_001362843.1:c.2090C>T	NP_001349772.1:p.Pro697Leu
NM_001429.4:c.2168C>T MANE Select	NP_001420.2:p.Pro723Leu
NM_001362843.2:c.2090C>T	NP_001349772.1:p.Pro697Leu