Canonical Allele Identifier: CA394550351

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298699
• MyVariant Identifiers: chr16:g.3777860A>C (hg19) ; chr16:g.3727859A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727859A>C , CM000678.2:g.3727859A>C	GRCh38
NC_000016.9:g.3777860A>C , CM000678.1:g.3777860A>C	GRCh37
NC_000016.8:g.3717861A>C	NCBI36
NG_009873.1:g.157262T>G
NG_009873.2:g.157855T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7188T>G MANE Select	ENSP00000262367.5:p.Asp2396Glu
ENST00000262367.9:c.7188T>G	ENSP00000262367.5:p.Asp2396Glu
ENST00000382070.7:c.7074T>G	ENSP00000371502.3:p.Asp2358Glu
NM_001079846.1:c.7074T>G	NP_001073315.1:p.Asp2358Glu
NM_004380.2:c.7188T>G	NP_004371.2:p.Asp2396Glu
XM_005255124.3:c.7143T>G	XP_005255181.1:p.Asp2381Glu
XM_005255125.3:c.6771T>G	XP_005255182.1:p.Asp2257Glu
XM_006720848.2:c.6927T>G	XP_006720911.1:p.Asp2309Glu
XM_011522380.1:c.7134T>G	XP_011520682.1:p.Asp2378Glu
XM_011522381.1:c.6435T>G	XP_011520683.1:p.Asp2145Glu
XM_005255124.4:c.7143T>G	XP_005255181.1:p.Asp2381Glu
XM_005255125.4:c.6771T>G	XP_005255182.1:p.Asp2257Glu
XM_006720848.3:c.6927T>G	XP_006720911.1:p.Asp2309Glu
XM_011522381.2:c.6435T>G	XP_011520683.1:p.Asp2145Glu
XM_017022944.1:c.7182T>G	XP_016878433.1:p.Asp2394Glu
NM_004380.3:c.7188T>G MANE Select	NP_004371.2:p.Asp2396Glu