Canonical Allele Identifier: CA204617

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 208655
• ClinVar RCV Id: RCV000190664
• dbSNP Id: rs797044860
• MyVariant Identifiers: chr16:g.3786802T>C (hg19) ; chr16:g.3736801T>C (hg38)
• PubMed: PMID:10699051 ; PMID:12070251 ; PMID:12114483 ; PMID:13983033 ; PMID:15706485 ; PMID:16021471 ; PMID:16783566 ; PMID:18792986 ; PMID:25108505 ; PMID:25388907 ; PMID:25599811 ; PMID:26603346 ; PMID:26788536 ; PMID:26956253 ; PMID:27165009 ; PMID:27311832 ; PMID:27342041 ; PMID:27899622

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736801T>C , CM000678.2:g.3736801T>C	GRCh38
NC_000016.9:g.3786802T>C , CM000678.1:g.3786802T>C	GRCh37
NC_000016.8:g.3726803T>C	NCBI36
NG_009873.1:g.148320A>G
NG_009873.2:g.148913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4409A>G MANE Select	ENSP00000262367.5:p.His1470Arg
ENST00000262367.9:c.4409A>G	ENSP00000262367.5:p.His1470Arg
ENST00000382070.7:c.4295A>G	ENSP00000371502.3:p.His1432Arg
ENST00000570939.2:c.3044A>G	ENSP00000461002.2:p.His1015Arg
ENST00000571763.5:n.199A>G
ENST00000574740.1:n.230A>G
ENST00000576720.1:n.3232A>G
NM_001079846.1:c.4295A>G	NP_001073315.1:p.His1432Arg
NM_004380.2:c.4409A>G	NP_004371.2:p.His1470Arg
XM_005255124.3:c.4364A>G	XP_005255181.1:p.His1455Arg
XM_005255125.3:c.3992A>G	XP_005255182.1:p.His1331Arg
XM_006720848.2:c.4148A>G	XP_006720911.1:p.His1383Arg
XM_011522380.1:c.4355A>G	XP_011520682.1:p.His1452Arg
XM_011522381.1:c.3656A>G	XP_011520683.1:p.His1219Arg
XM_005255124.4:c.4364A>G	XP_005255181.1:p.His1455Arg
XM_005255125.4:c.3992A>G	XP_005255182.1:p.His1331Arg
XM_006720848.3:c.4148A>G	XP_006720911.1:p.His1383Arg
XM_011522381.2:c.3656A>G	XP_011520683.1:p.His1219Arg
XM_017022944.1:c.4403A>G	XP_016878433.1:p.His1468Arg
NM_004380.3:c.4409A>G MANE Select	NP_004371.2:p.His1470Arg