Canonical Allele Identifier: CA394556233

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051853986
• MyVariant Identifiers: chr16:g.3779569A>T (hg19) ; chr16:g.3729568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729568A>T , CM000678.2:g.3729568A>T	GRCh38
NC_000016.9:g.3779569A>T , CM000678.1:g.3779569A>T	GRCh37
NC_000016.8:g.3719570A>T	NCBI36
NG_009873.1:g.155553T>A
NG_009873.2:g.156146T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5479T>A MANE Select	ENSP00000262367.5:p.Cys1827Ser
ENST00000262367.9:c.5479T>A	ENSP00000262367.5:p.Cys1827Ser
ENST00000382070.7:c.5365T>A	ENSP00000371502.3:p.Cys1789Ser
NM_001079846.1:c.5365T>A	NP_001073315.1:p.Cys1789Ser
NM_004380.2:c.5479T>A	NP_004371.2:p.Cys1827Ser
XM_005255124.3:c.5434T>A	XP_005255181.1:p.Cys1812Ser
XM_005255125.3:c.5062T>A	XP_005255182.1:p.Cys1688Ser
XM_006720848.2:c.5218T>A	XP_006720911.1:p.Cys1740Ser
XM_011522380.1:c.5425T>A	XP_011520682.1:p.Cys1809Ser
XM_011522381.1:c.4726T>A	XP_011520683.1:p.Cys1576Ser
XM_005255124.4:c.5434T>A	XP_005255181.1:p.Cys1812Ser
XM_005255125.4:c.5062T>A	XP_005255182.1:p.Cys1688Ser
XM_006720848.3:c.5218T>A	XP_006720911.1:p.Cys1740Ser
XM_011522381.2:c.4726T>A	XP_011520683.1:p.Cys1576Ser
XM_017022944.1:c.5473T>A	XP_016878433.1:p.Cys1825Ser
NM_004380.3:c.5479T>A MANE Select	NP_004371.2:p.Cys1827Ser