Canonical Allele Identifier: CA10252632

Gene: EP300

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41140160C>T , CM000684.2:g.41140160C>T	GRCh38
NC_000022.10:g.41536164C>T , CM000684.1:g.41536164C>T	GRCh37
NC_000022.9:g.39866110C>T	NCBI36
NG_009817.1:g.52551C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001429.4:c.1781C>T MANE Select	NP_001420.2:p.Thr594Met
ENST00000263253.9:c.1781C>T MANE Select	ENSP00000263253.7:p.Thr594Met
NM_001362843.1:c.1781C>T	NP_001349772.1:p.Thr594Met
NM_001362843.2:c.1781C>T	NP_001349772.1:p.Thr594Met
NM_001429.3:c.1781C>T	NP_001420.2:p.Thr594Met
ENST00000263253.8:c.1781C>T	ENSP00000263253.7:p.Thr594Met
ENST00000634690.1:c.216C>T
ENST00000674155.1:c.1781C>T	ENSP00000501078.1:p.Thr594Met
ENST00000703544.1:c.1781C>T	ENSP00000515365.1:p.Thr594Met
ENST00000703545.1:c.1571C>T
XM_006724165.2:c.1781C>T	XP_006724228.1:p.Thr594Met