Canonical Allele Identifier: CA7869196

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 589299
• ClinVar RCV Id: RCV001500629 ; RCV002318718
• dbSNP Id: rs763241697
• ExAC: 16:3779015 G / A
• gnomAD v2: 16-3779015-G-A
• gnomAD v3: 16-3729014-G-A
• gnomAD v4: 16-3729014-G-A
• COSMIC: COSM4651265
• MyVariant Identifiers: chr16:g.3779015G>A (hg19) ; chr16:g.3729014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729014G>A , CM000678.2:g.3729014G>A	GRCh38
NC_000016.9:g.3779015G>A , CM000678.1:g.3779015G>A	GRCh37
NC_000016.8:g.3719016G>A	NCBI36
NG_009873.1:g.156107C>T
NG_009873.2:g.156700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6033C>T MANE Select	ENSP00000262367.5:p.Pro2011=
ENST00000262367.9:c.6033C>T	ENSP00000262367.5:p.Pro2011=
ENST00000382070.7:c.5919C>T	ENSP00000371502.3:p.Pro1973=
NM_001079846.1:c.5919C>T	NP_001073315.1:p.Pro1973=
NM_004380.2:c.6033C>T	NP_004371.2:p.Pro2011=
XM_005255124.3:c.5988C>T	XP_005255181.1:p.Pro1996=
XM_005255125.3:c.5616C>T	XP_005255182.1:p.Pro1872=
XM_006720848.2:c.5772C>T	XP_006720911.1:p.Pro1924=
XM_011522380.1:c.5979C>T	XP_011520682.1:p.Pro1993=
XM_011522381.1:c.5280C>T	XP_011520683.1:p.Pro1760=
XM_005255124.4:c.5988C>T	XP_005255181.1:p.Pro1996=
XM_005255125.4:c.5616C>T	XP_005255182.1:p.Pro1872=
XM_006720848.3:c.5772C>T	XP_006720911.1:p.Pro1924=
XM_011522381.2:c.5280C>T	XP_011520683.1:p.Pro1760=
XM_017022944.1:c.6027C>T	XP_016878433.1:p.Pro2009=
NM_004380.3:c.6033C>T MANE Select	NP_004371.2:p.Pro2011=