Canonical Allele Identifier: CA639441008
Community Standard Title: NM_001429.4(EP300):c.1529-16T>C
Gene: EP300 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41135797T>C , CM000684.2:g.41135797T>C GRCh38
NC_000022.10:g.41531801T>C , CM000684.1:g.41531801T>C GRCh37
NC_000022.9:g.39861747T>C NCBI36
NG_009817.1:g.48188T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001429.4:c.1529-16T>C MANE Select NP_001420.2:n.1529-16T>C
ENST00000263253.9:c.1529-16T>C MANE Select ENSP00000263253.7:n.1529-16T>C
NM_001362843.1:c.1529-16T>C NP_001349772.1:n.1529-16T>C
NM_001362843.2:c.1529-16T>C NP_001349772.1:n.1529-16T>C
NM_001429.3:c.1529-16T>C NP_001420.2:n.1529-16T>C
ENST00000263253.8:c.1529-16T>C ENSP00000263253.7:n.1529-16T>C
ENST00000634690.1:c.102-16T>C
ENST00000674155.1:c.1529-16T>C ENSP00000501078.1:n.1529-16T>C
ENST00000703544.1:c.1529-16T>C ENSP00000515365.1:n.1529-16T>C
ENST00000703545.1:c.1413-1856T>C
XM_006724165.2:c.1529-16T>C XP_006724228.1:n.1529-16T>C