Canonical Allele Identifier: CA493394193

Gene: CREBBP

Linked Data

• dbSNP Id: rs1231868445
• gnomAD v2: 16-3779708-C-T
• gnomAD v4: 16-3729707-C-T
• MyVariant Identifiers: chr16:g.3779708C>T (hg19) ; chr16:g.3729707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729707C>T , CM000678.2:g.3729707C>T	GRCh38
NC_000016.9:g.3779708C>T , CM000678.1:g.3779708C>T	GRCh37
NC_000016.8:g.3719709C>T	NCBI36
NG_009873.1:g.155414G>A
NG_009873.2:g.156007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5340G>A MANE Select	ENSP00000262367.5:p.Val1780=
ENST00000262367.9:c.5340G>A	ENSP00000262367.5:p.Val1780=
ENST00000382070.7:c.5226G>A	ENSP00000371502.3:p.Val1742=
NM_001079846.1:c.5226G>A	NP_001073315.1:p.Val1742=
NM_004380.2:c.5340G>A	NP_004371.2:p.Val1780=
XM_005255124.3:c.5295G>A	XP_005255181.1:p.Val1765=
XM_005255125.3:c.4923G>A	XP_005255182.1:p.Val1641=
XM_006720848.2:c.5079G>A	XP_006720911.1:p.Val1693=
XM_011522380.1:c.5286G>A	XP_011520682.1:p.Val1762=
XM_011522381.1:c.4587G>A	XP_011520683.1:p.Val1529=
XM_005255124.4:c.5295G>A	XP_005255181.1:p.Val1765=
XM_005255125.4:c.4923G>A	XP_005255182.1:p.Val1641=
XM_006720848.3:c.5079G>A	XP_006720911.1:p.Val1693=
XM_011522381.2:c.4587G>A	XP_011520683.1:p.Val1529=
XM_017022944.1:c.5334G>A	XP_016878433.1:p.Val1778=
NM_004380.3:c.5340G>A MANE Select	NP_004371.2:p.Val1780=