Canonical Allele Identifier: CA493393143

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298261
• MyVariant Identifiers: chr16:g.3777794A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727793A>G , CM000678.2:g.3727793A>G	GRCh38
NC_000016.9:g.3777794A>G , CM000678.1:g.3777794A>G	GRCh37
NC_000016.8:g.3717795A>G	NCBI36
NG_009873.1:g.157328T>C
NG_009873.2:g.157921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7254T>C MANE Select	ENSP00000262367.5:p.Ser2418=
ENST00000262367.9:c.7254T>C	ENSP00000262367.5:p.Ser2418=
ENST00000382070.7:c.7140T>C	ENSP00000371502.3:p.Ser2380=
NM_001079846.1:c.7140T>C	NP_001073315.1:p.Ser2380=
NM_004380.2:c.7254T>C	NP_004371.2:p.Ser2418=
XM_005255124.3:c.7209T>C	XP_005255181.1:p.Ser2403=
XM_005255125.3:c.6837T>C	XP_005255182.1:p.Ser2279=
XM_006720848.2:c.6993T>C	XP_006720911.1:p.Ser2331=
XM_011522380.1:c.7200T>C	XP_011520682.1:p.Ser2400=
XM_011522381.1:c.6501T>C	XP_011520683.1:p.Ser2167=
XM_005255124.4:c.7209T>C	XP_005255181.1:p.Ser2403=
XM_005255125.4:c.6837T>C	XP_005255182.1:p.Ser2279=
XM_006720848.3:c.6993T>C	XP_006720911.1:p.Ser2331=
XM_011522381.2:c.6501T>C	XP_011520683.1:p.Ser2167=
XM_017022944.1:c.7248T>C	XP_016878433.1:p.Ser2416=
NM_004380.3:c.7254T>C MANE Select	NP_004371.2:p.Ser2418=