Canonical Allele Identifier: CA493394389

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2040296
• ClinVar RCV Id: RCV002886352
• dbSNP Id: rs748186639
• MyVariant Identifiers: chr16:g.3779645C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729644C>A , CM000678.2:g.3729644C>A	GRCh38
NC_000016.9:g.3779645C>A , CM000678.1:g.3779645C>A	GRCh37
NC_000016.8:g.3719646C>A	NCBI36
NG_009873.1:g.155477G>T
NG_009873.2:g.156070G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5403G>T MANE Select	ENSP00000262367.5:p.Val1801=
ENST00000262367.9:c.5403G>T	ENSP00000262367.5:p.Val1801=
ENST00000382070.7:c.5289G>T	ENSP00000371502.3:p.Val1763=
NM_001079846.1:c.5289G>T	NP_001073315.1:p.Val1763=
NM_004380.2:c.5403G>T	NP_004371.2:p.Val1801=
XM_005255124.3:c.5358G>T	XP_005255181.1:p.Val1786=
XM_005255125.3:c.4986G>T	XP_005255182.1:p.Val1662=
XM_006720848.2:c.5142G>T	XP_006720911.1:p.Val1714=
XM_011522380.1:c.5349G>T	XP_011520682.1:p.Val1783=
XM_011522381.1:c.4650G>T	XP_011520683.1:p.Val1550=
XM_005255124.4:c.5358G>T	XP_005255181.1:p.Val1786=
XM_005255125.4:c.4986G>T	XP_005255182.1:p.Val1662=
XM_006720848.3:c.5142G>T	XP_006720911.1:p.Val1714=
XM_011522381.2:c.4650G>T	XP_011520683.1:p.Val1550=
XM_017022944.1:c.5397G>T	XP_016878433.1:p.Val1799=
NM_004380.3:c.5403G>T MANE Select	NP_004371.2:p.Val1801=