Canonical Allele Identifier: CA493393261

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298699
• MyVariant Identifiers: chr16:g.3777860A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7188T>C MANE Select	ENSP00000262367.5:p.Asp2396=
ENST00000262367.9:c.7188T>C	ENSP00000262367.5:p.Asp2396=
ENST00000382070.7:c.7074T>C	ENSP00000371502.3:p.Asp2358=
NM_001079846.1:c.7074T>C	NP_001073315.1:p.Asp2358=
NM_004380.2:c.7188T>C	NP_004371.2:p.Asp2396=
XM_005255124.3:c.7143T>C	XP_005255181.1:p.Asp2381=
XM_005255125.3:c.6771T>C	XP_005255182.1:p.Asp2257=
XM_006720848.2:c.6927T>C	XP_006720911.1:p.Asp2309=
XM_011522380.1:c.7134T>C	XP_011520682.1:p.Asp2378=
XM_011522381.1:c.6435T>C	XP_011520683.1:p.Asp2145=
XM_005255124.4:c.7143T>C	XP_005255181.1:p.Asp2381=
XM_005255125.4:c.6771T>C	XP_005255182.1:p.Asp2257=
XM_006720848.3:c.6927T>C	XP_006720911.1:p.Asp2309=
XM_011522381.2:c.6435T>C	XP_011520683.1:p.Asp2145=
XM_017022944.1:c.7182T>C	XP_016878433.1:p.Asp2394=
NM_004380.3:c.7188T>C MANE Select	NP_004371.2:p.Asp2396=