Canonical Allele Identifier: CA394550408

Gene: CREBBP

Linked Data

• dbSNP Id: rs756011865
• MyVariant Identifiers: chr16:g.3777886C>G (hg19) ; chr16:g.3727885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727885C>G , CM000678.2:g.3727885C>G	GRCh38
NC_000016.9:g.3777886C>G , CM000678.1:g.3777886C>G	GRCh37
NC_000016.8:g.3717887C>G	NCBI36
NG_009873.1:g.157236G>C
NG_009873.2:g.157829G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7162G>C MANE Select	ENSP00000262367.5:p.Ala2388Pro
ENST00000262367.9:c.7162G>C	ENSP00000262367.5:p.Ala2388Pro
ENST00000382070.7:c.7048G>C	ENSP00000371502.3:p.Ala2350Pro
NM_001079846.1:c.7048G>C	NP_001073315.1:p.Ala2350Pro
NM_004380.2:c.7162G>C	NP_004371.2:p.Ala2388Pro
XM_005255124.3:c.7117G>C	XP_005255181.1:p.Ala2373Pro
XM_005255125.3:c.6745G>C	XP_005255182.1:p.Ala2249Pro
XM_006720848.2:c.6901G>C	XP_006720911.1:p.Ala2301Pro
XM_011522380.1:c.7108G>C	XP_011520682.1:p.Ala2370Pro
XM_011522381.1:c.6409G>C	XP_011520683.1:p.Ala2137Pro
XM_005255124.4:c.7117G>C	XP_005255181.1:p.Ala2373Pro
XM_005255125.4:c.6745G>C	XP_005255182.1:p.Ala2249Pro
XM_006720848.3:c.6901G>C	XP_006720911.1:p.Ala2301Pro
XM_011522381.2:c.6409G>C	XP_011520683.1:p.Ala2137Pro
XM_017022944.1:c.7156G>C	XP_016878433.1:p.Ala2386Pro
NM_004380.3:c.7162G>C MANE Select	NP_004371.2:p.Ala2388Pro