Canonical Allele Identifier: CA394563380

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329227
• MyVariant Identifiers: chr16:g.3786673T>A (hg19) ; chr16:g.3736672T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736672T>A , CM000678.2:g.3736672T>A	GRCh38
NC_000016.9:g.3786673T>A , CM000678.1:g.3786673T>A	GRCh37
NC_000016.8:g.3726674T>A	NCBI36
NG_009873.1:g.148449A>T
NG_009873.2:g.149042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4538A>T MANE Select	ENSP00000262367.5:p.Glu1513Val
ENST00000262367.9:c.4538A>T	ENSP00000262367.5:p.Glu1513Val
ENST00000382070.7:c.4424A>T	ENSP00000371502.3:p.Glu1475Val
ENST00000570939.2:c.3173A>T	ENSP00000461002.2:p.Glu1058Val
ENST00000571763.5:n.328A>T
ENST00000574740.1:n.359A>T
ENST00000576720.1:n.3361A>T
NM_001079846.1:c.4424A>T	NP_001073315.1:p.Glu1475Val
NM_004380.2:c.4538A>T	NP_004371.2:p.Glu1513Val
XM_005255124.3:c.4493A>T	XP_005255181.1:p.Glu1498Val
XM_005255125.3:c.4121A>T	XP_005255182.1:p.Glu1374Val
XM_006720848.2:c.4277A>T	XP_006720911.1:p.Glu1426Val
XM_011522380.1:c.4484A>T	XP_011520682.1:p.Glu1495Val
XM_011522381.1:c.3785A>T	XP_011520683.1:p.Glu1262Val
XM_005255124.4:c.4493A>T	XP_005255181.1:p.Glu1498Val
XM_005255125.4:c.4121A>T	XP_005255182.1:p.Glu1374Val
XM_006720848.3:c.4277A>T	XP_006720911.1:p.Glu1426Val
XM_011522381.2:c.3785A>T	XP_011520683.1:p.Glu1262Val
XM_017022944.1:c.4532A>T	XP_016878433.1:p.Glu1511Val
NM_004380.3:c.4538A>T MANE Select	NP_004371.2:p.Glu1513Val