Canonical Allele Identifier: CA2406108606
Gene: EP300 HGNC NCBI

Linked Data

dbSNP Id: rs1291397780
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41160624T>C , CM000684.2:g.41160624T>C GRCh38
NC_000022.10:g.41556628T>C , CM000684.1:g.41556628T>C GRCh37
NC_000022.9:g.39886574T>C NCBI36
NG_009817.1:g.73015T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703544.1:c.*1511-18T>C ENSP00000515365.1:n.*1511-18T>C
ENST00000263253.9:c.3591-18T>C MANE Select ENSP00000263253.7:n.3591-18T>C
ENST00000674155.1:c.3513-18T>C ENSP00000501078.1:n.3513-18T>C
ENST00000263253.8:c.3591-18T>C ENSP00000263253.7:n.3591-18T>C
NM_001429.3:c.3591-18T>C NP_001420.2:n.3591-18T>C
XM_006724165.2:c.3513-18T>C XP_006724228.1:n.3513-18T>C
NM_001362843.1:c.3513-18T>C NP_001349772.1:n.3513-18T>C
NM_001429.4:c.3591-18T>C MANE Select NP_001420.2:n.3591-18T>C
NM_001362843.2:c.3513-18T>C NP_001349772.1:n.3513-18T>C
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