Canonical Allele Identifier: CA16621126
Gene: EP300 HGNC NCBI

Linked Data

ClinVar Variation Id: 422178
ClinVar RCV Id: RCV000479346
dbSNP Id: rs1064795607
MyVariant Identifiers: chr22:g.41564594T>C (hg19) chr22:g.41168590T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41168590T>C , CM000684.2:g.41168590T>C GRCh38
NC_000022.10:g.41564594T>C , CM000684.1:g.41564594T>C GRCh37
NC_000022.9:g.39894540T>C NCBI36
NG_009817.1:g.80981T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703544.1:c.*1936T>C ENSP00000515365.1:n.*1936T>C
ENST00000263253.9:c.4016T>C MANE Select ENSP00000263253.7:p.Met1339Thr
ENST00000674155.1:c.3938T>C ENSP00000501078.1:p.Met1313Thr
ENST00000263253.8:c.4016T>C ENSP00000263253.7:p.Met1339Thr
ENST00000635584.1:n.341T>C
NM_001429.3:c.4016T>C NP_001420.2:p.Met1339Thr
XM_006724165.2:c.3938T>C XP_006724228.1:p.Met1313Thr
NM_001362843.1:c.3938T>C NP_001349772.1:p.Met1313Thr
NM_001429.4:c.4016T>C MANE Select NP_001420.2:p.Met1339Thr
NM_001362843.2:c.3938T>C NP_001349772.1:p.Met1313Thr
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