Canonical Allele Identifier: CA493394342

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2163611
• ClinVar RCV Id: RCV003092407
• dbSNP Id: rs1249231459
• gnomAD v2: 16-3779849-A-G
• gnomAD v3: 16-3729848-A-G
• gnomAD v4: 16-3729848-A-G
• MyVariant Identifiers: chr16:g.3779849A>G (hg19) ; chr16:g.3729848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729848A>G , CM000678.2:g.3729848A>G	GRCh38
NC_000016.9:g.3779849A>G , CM000678.1:g.3779849A>G	GRCh37
NC_000016.8:g.3719850A>G	NCBI36
NG_009873.1:g.155273T>C
NG_009873.2:g.155866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5199T>C MANE Select	ENSP00000262367.5:p.Tyr1733=
ENST00000262367.9:c.5199T>C	ENSP00000262367.5:p.Tyr1733=
ENST00000382070.7:c.5085T>C	ENSP00000371502.3:p.Tyr1695=
NM_001079846.1:c.5085T>C	NP_001073315.1:p.Tyr1695=
NM_004380.2:c.5199T>C	NP_004371.2:p.Tyr1733=
XM_005255124.3:c.5154T>C	XP_005255181.1:p.Tyr1718=
XM_005255125.3:c.4782T>C	XP_005255182.1:p.Tyr1594=
XM_006720848.2:c.4938T>C	XP_006720911.1:p.Tyr1646=
XM_011522380.1:c.5145T>C	XP_011520682.1:p.Tyr1715=
XM_011522381.1:c.4446T>C	XP_011520683.1:p.Tyr1482=
XM_005255124.4:c.5154T>C	XP_005255181.1:p.Tyr1718=
XM_005255125.4:c.4782T>C	XP_005255182.1:p.Tyr1594=
XM_006720848.3:c.4938T>C	XP_006720911.1:p.Tyr1646=
XM_011522381.2:c.4446T>C	XP_011520683.1:p.Tyr1482=
XM_017022944.1:c.5193T>C	XP_016878433.1:p.Tyr1731=
NM_004380.3:c.5199T>C MANE Select	NP_004371.2:p.Tyr1733=