Canonical Allele Identifier: CA148132

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 95057
• ClinVar RCV Id: RCV000081062 ; RCV000871098 ; RCV001727562 ; RCV002311612
• dbSNP Id: rs112906840
• ExAC: 16:3779115 T / C
• gnomAD v2: 16-3779115-T-C
• gnomAD v3: 16-3729114-T-C
• gnomAD v4: 16-3729114-T-C
• COSMIC: COSM96469
• MyVariant Identifiers: chr16:g.3779115T>C (hg19) ; chr16:g.3729114T>C (hg38)
• PubMed: PMID:23891399 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729114T>C , CM000678.2:g.3729114T>C	GRCh38
NC_000016.9:g.3779115T>C , CM000678.1:g.3779115T>C	GRCh37
NC_000016.8:g.3719116T>C	NCBI36
NG_009873.1:g.156007A>G
NG_009873.2:g.156600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5933A>G MANE Select	ENSP00000262367.5:p.Asn1978Ser
ENST00000262367.9:c.5933A>G	ENSP00000262367.5:p.Asn1978Ser
ENST00000382070.7:c.5819A>G	ENSP00000371502.3:p.Asn1940Ser
NM_001079846.1:c.5819A>G	NP_001073315.1:p.Asn1940Ser
NM_004380.2:c.5933A>G	NP_004371.2:p.Asn1978Ser
XM_005255124.3:c.5888A>G	XP_005255181.1:p.Asn1963Ser
XM_005255125.3:c.5516A>G	XP_005255182.1:p.Asn1839Ser
XM_006720848.2:c.5672A>G	XP_006720911.1:p.Asn1891Ser
XM_011522380.1:c.5879A>G	XP_011520682.1:p.Asn1960Ser
XM_011522381.1:c.5180A>G	XP_011520683.1:p.Asn1727Ser
XM_005255124.4:c.5888A>G	XP_005255181.1:p.Asn1963Ser
XM_005255125.4:c.5516A>G	XP_005255182.1:p.Asn1839Ser
XM_006720848.3:c.5672A>G	XP_006720911.1:p.Asn1891Ser
XM_011522381.2:c.5180A>G	XP_011520683.1:p.Asn1727Ser
XM_017022944.1:c.5927A>G	XP_016878433.1:p.Asn1976Ser
NM_004380.3:c.5933A>G MANE Select	NP_004371.2:p.Asn1978Ser