Canonical Allele Identifier: CA172157
Gene: EP300 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41127522C>T , CM000684.2:g.41127522C>T GRCh38
NC_000022.10:g.41523526C>T , CM000684.1:g.41523526C>T GRCh37
NC_000022.9:g.39853472C>T NCBI36
NG_009817.1:g.39913C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001429.4:c.942C>T MANE Select NP_001420.2:p.Gly314=
ENST00000263253.9:c.942C>T MANE Select ENSP00000263253.7:p.Gly314=
NM_001362843.1:c.942C>T NP_001349772.1:p.Gly314=
NM_001362843.2:c.942C>T NP_001349772.1:p.Gly314=
NM_001429.3:c.942C>T NP_001420.2:p.Gly314=
ENST00000263253.8:c.942C>T ENSP00000263253.7:p.Gly314=
ENST00000634860.1:n.225C>T
ENST00000674155.1:c.942C>T ENSP00000501078.1:p.Gly314=
ENST00000703544.1:c.942C>T ENSP00000515365.1:p.Gly314=
ENST00000703545.1:c.826C>T
XM_006724165.2:c.942C>T XP_006724228.1:p.Gly314=