Canonical Allele Identifier: CA7869200

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 595866
• ClinVar RCV Id: RCV000731540 ; RCV003947932 ; RCV003758919
• dbSNP Id: rs768100377
• ExAC: 16:3779042 C / A
• gnomAD v2: 16-3779042-C-A
• gnomAD v3: 16-3729041-C-A
• gnomAD v4: 16-3729041-C-A
• MyVariant Identifiers: chr16:g.3779042C>A (hg19) ; chr16:g.3729041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729041C>A , CM000678.2:g.3729041C>A	GRCh38
NC_000016.9:g.3779042C>A , CM000678.1:g.3779042C>A	GRCh37
NC_000016.8:g.3719043C>A	NCBI36
NG_009873.1:g.156080G>T
NG_009873.2:g.156673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6006G>T MANE Select	ENSP00000262367.5:p.Val2002=
ENST00000262367.9:c.6006G>T	ENSP00000262367.5:p.Val2002=
ENST00000382070.7:c.5892G>T	ENSP00000371502.3:p.Val1964=
NM_001079846.1:c.5892G>T	NP_001073315.1:p.Val1964=
NM_004380.2:c.6006G>T	NP_004371.2:p.Val2002=
XM_005255124.3:c.5961G>T	XP_005255181.1:p.Val1987=
XM_005255125.3:c.5589G>T	XP_005255182.1:p.Val1863=
XM_006720848.2:c.5745G>T	XP_006720911.1:p.Val1915=
XM_011522380.1:c.5952G>T	XP_011520682.1:p.Val1984=
XM_011522381.1:c.5253G>T	XP_011520683.1:p.Val1751=
XM_005255124.4:c.5961G>T	XP_005255181.1:p.Val1987=
XM_005255125.4:c.5589G>T	XP_005255182.1:p.Val1863=
XM_006720848.3:c.5745G>T	XP_006720911.1:p.Val1915=
XM_011522381.2:c.5253G>T	XP_011520683.1:p.Val1751=
XM_017022944.1:c.6000G>T	XP_016878433.1:p.Val2000=
NM_004380.3:c.6006G>T MANE Select	NP_004371.2:p.Val2002=