Canonical Allele Identifier: CA7869128

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2918047
• ClinVar RCV Id: RCV003761121
• dbSNP Id: rs200780672
• ExAC: 16:3778672 C / A
• gnomAD v2: 16-3778672-C-A
• gnomAD v3: 16-3728671-C-A
• gnomAD v4: 16-3728671-C-A
• MyVariant Identifiers: chr16:g.3778672C>A (hg19) ; chr16:g.3728671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728671C>A , CM000678.2:g.3728671C>A	GRCh38
NC_000016.9:g.3778672C>A , CM000678.1:g.3778672C>A	GRCh37
NC_000016.8:g.3718673C>A	NCBI36
NG_009873.1:g.156450G>T
NG_009873.2:g.157043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6376G>T MANE Select	ENSP00000262367.5:p.Gly2126Cys
ENST00000262367.9:c.6376G>T	ENSP00000262367.5:p.Gly2126Cys
ENST00000382070.7:c.6262G>T	ENSP00000371502.3:p.Gly2088Cys
NM_001079846.1:c.6262G>T	NP_001073315.1:p.Gly2088Cys
NM_004380.2:c.6376G>T	NP_004371.2:p.Gly2126Cys
XM_005255124.3:c.6331G>T	XP_005255181.1:p.Gly2111Cys
XM_005255125.3:c.5959G>T	XP_005255182.1:p.Gly1987Cys
XM_006720848.2:c.6115G>T	XP_006720911.1:p.Gly2039Cys
XM_011522380.1:c.6322G>T	XP_011520682.1:p.Gly2108Cys
XM_011522381.1:c.5623G>T	XP_011520683.1:p.Gly1875Cys
XM_005255124.4:c.6331G>T	XP_005255181.1:p.Gly2111Cys
XM_005255125.4:c.5959G>T	XP_005255182.1:p.Gly1987Cys
XM_006720848.3:c.6115G>T	XP_006720911.1:p.Gly2039Cys
XM_011522381.2:c.5623G>T	XP_011520683.1:p.Gly1875Cys
XM_017022944.1:c.6370G>T	XP_016878433.1:p.Gly2124Cys
NM_004380.3:c.6376G>T MANE Select	NP_004371.2:p.Gly2126Cys