Canonical Allele Identifier: CA394563472

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329335
• MyVariant Identifiers: chr16:g.3786689C>G (hg19) ; chr16:g.3736688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736688C>G , CM000678.2:g.3736688C>G	GRCh38
NC_000016.9:g.3786689C>G , CM000678.1:g.3786689C>G	GRCh37
NC_000016.8:g.3726690C>G	NCBI36
NG_009873.1:g.148433G>C
NG_009873.2:g.149026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4522G>C MANE Select	ENSP00000262367.5:p.Asp1508His
ENST00000262367.9:c.4522G>C	ENSP00000262367.5:p.Asp1508His
ENST00000382070.7:c.4408G>C	ENSP00000371502.3:p.Asp1470His
ENST00000570939.2:c.3157G>C	ENSP00000461002.2:p.Asp1053His
ENST00000571763.5:n.312G>C
ENST00000574740.1:n.343G>C
ENST00000576720.1:n.3345G>C
NM_001079846.1:c.4408G>C	NP_001073315.1:p.Asp1470His
NM_004380.2:c.4522G>C	NP_004371.2:p.Asp1508His
XM_005255124.3:c.4477G>C	XP_005255181.1:p.Asp1493His
XM_005255125.3:c.4105G>C	XP_005255182.1:p.Asp1369His
XM_006720848.2:c.4261G>C	XP_006720911.1:p.Asp1421His
XM_011522380.1:c.4468G>C	XP_011520682.1:p.Asp1490His
XM_011522381.1:c.3769G>C	XP_011520683.1:p.Asp1257His
XM_005255124.4:c.4477G>C	XP_005255181.1:p.Asp1493His
XM_005255125.4:c.4105G>C	XP_005255182.1:p.Asp1369His
XM_006720848.3:c.4261G>C	XP_006720911.1:p.Asp1421His
XM_011522381.2:c.3769G>C	XP_011520683.1:p.Asp1257His
XM_017022944.1:c.4516G>C	XP_016878433.1:p.Asp1506His
NM_004380.3:c.4522G>C MANE Select	NP_004371.2:p.Asp1508His