Canonical Allele Identifier: CA493393264

Gene: CREBBP

Linked Data

• dbSNP Id: rs752626859
• gnomAD v4: 16-3727883-T-G
• MyVariant Identifiers: chr16:g.3777884T>G (hg19) ; chr16:g.3727883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727883T>G , CM000678.2:g.3727883T>G	GRCh38
NC_000016.9:g.3777884T>G , CM000678.1:g.3777884T>G	GRCh37
NC_000016.8:g.3717885T>G	NCBI36
NG_009873.1:g.157238A>C
NG_009873.2:g.157831A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7164A>C MANE Select	ENSP00000262367.5:p.Ala2388=
ENST00000262367.9:c.7164A>C	ENSP00000262367.5:p.Ala2388=
ENST00000382070.7:c.7050A>C	ENSP00000371502.3:p.Ala2350=
NM_001079846.1:c.7050A>C	NP_001073315.1:p.Ala2350=
NM_004380.2:c.7164A>C	NP_004371.2:p.Ala2388=
XM_005255124.3:c.7119A>C	XP_005255181.1:p.Ala2373=
XM_005255125.3:c.6747A>C	XP_005255182.1:p.Ala2249=
XM_006720848.2:c.6903A>C	XP_006720911.1:p.Ala2301=
XM_011522380.1:c.7110A>C	XP_011520682.1:p.Ala2370=
XM_011522381.1:c.6411A>C	XP_011520683.1:p.Ala2137=
XM_005255124.4:c.7119A>C	XP_005255181.1:p.Ala2373=
XM_005255125.4:c.6747A>C	XP_005255182.1:p.Ala2249=
XM_006720848.3:c.6903A>C	XP_006720911.1:p.Ala2301=
XM_011522381.2:c.6411A>C	XP_011520683.1:p.Ala2137=
XM_017022944.1:c.7158A>C	XP_016878433.1:p.Ala2386=
NM_004380.3:c.7164A>C MANE Select	NP_004371.2:p.Ala2388=