Canonical Allele Identifier: CA250542
Gene: EP300 HGNC NCBI

Linked Data

ClinVar Variation Id: 6881
ClinVar RCV Id: RCV000007284
dbSNP Id: rs28937578
COSMIC: COSM96425
MyVariant Identifiers: chr22:g.41574377C>A (hg19) chr22:g.41178373C>A (hg38)
PubMed: PMID:10700188
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41178373C>A , CM000684.2:g.41178373C>A GRCh38
NC_000022.10:g.41574377C>A , CM000684.1:g.41574377C>A GRCh37
NC_000022.9:g.39904323C>A NCBI36
NG_009817.1:g.90764C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263253.9:c.6662C>A MANE Select ENSP00000263253.7:p.Pro2221Gln
ENST00000674155.1:c.6584C>A ENSP00000501078.1:p.Pro2195Gln
ENST00000263253.8:c.6662C>A ENSP00000263253.7:p.Pro2221Gln
NM_001429.3:c.6662C>A NP_001420.2:p.Pro2221Gln
XM_006724165.2:c.6584C>A XP_006724228.1:p.Pro2195Gln
NM_001362843.1:c.6584C>A NP_001349772.1:p.Pro2195Gln
NM_001429.4:c.6662C>A MANE Select NP_001420.2:p.Pro2221Gln
NM_001362843.2:c.6584C>A NP_001349772.1:p.Pro2195Gln
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