Canonical Allele Identifier: CA394566225

Gene: CREBBP

Linked Data

• dbSNP Id: rs1247636443
• gnomAD v2: 16-3860776-C-A
• gnomAD v4: 16-3810775-C-A
• MyVariant Identifiers: chr16:g.3860776C>A (hg19) ; chr16:g.3860776_3860783delinsACCATCTG (hg19) ; chr16:g.3810775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810775C>A , CM000678.2:g.3810775C>A	GRCh38
NC_000016.9:g.3860776C>A , CM000678.1:g.3860776C>A	GRCh37
NC_000016.8:g.3800777C>A	NCBI36
NG_009873.1:g.74346G>T
NG_009873.2:g.74939G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.803G>T MANE Select	ENSP00000262367.5:p.Gly268Val
ENST00000635899.1:n.45G>T
ENST00000262367.9:c.803G>T	ENSP00000262367.5:p.Gly268Val
ENST00000382070.7:c.803G>T	ENSP00000371502.3:p.Gly268Val
NM_001079846.1:c.803G>T	NP_001073315.1:p.Gly268Val
NM_004380.2:c.803G>T	NP_004371.2:p.Gly268Val
XM_005255124.3:c.803G>T	XP_005255181.1:p.Gly268Val
XM_005255125.3:c.803G>T	XP_005255182.1:p.Gly268Val
XM_006720848.2:c.803G>T	XP_006720911.1:p.Gly268Val
XM_011522380.1:c.749G>T	XP_011520682.1:p.Gly250Val
XM_011522381.1:c.50G>T	XP_011520683.1:p.Gly17Val
XM_011522382.1:c.803G>T	XP_011520684.1:p.Gly268Val
XM_005255124.4:c.803G>T	XP_005255181.1:p.Gly268Val
XM_005255125.4:c.803G>T	XP_005255182.1:p.Gly268Val
XM_006720848.3:c.803G>T	XP_006720911.1:p.Gly268Val
XM_011522381.2:c.50G>T	XP_011520683.1:p.Gly17Val
XM_011522382.3:c.803G>T	XP_011520684.1:p.Gly268Val
XM_017022944.1:c.803G>T	XP_016878433.1:p.Gly268Val
NM_004380.3:c.803G>T MANE Select	NP_004371.2:p.Gly268Val