Canonical Allele Identifier: CA394557072

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311491
• MyVariant Identifiers: chr16:g.3779695A>T (hg19) ; chr16:g.3729694A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729694A>T , CM000678.2:g.3729694A>T	GRCh38
NC_000016.9:g.3779695A>T , CM000678.1:g.3779695A>T	GRCh37
NC_000016.8:g.3719696A>T	NCBI36
NG_009873.1:g.155427T>A
NG_009873.2:g.156020T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5353T>A MANE Select	ENSP00000262367.5:p.Cys1785Ser
ENST00000262367.9:c.5353T>A	ENSP00000262367.5:p.Cys1785Ser
ENST00000382070.7:c.5239T>A	ENSP00000371502.3:p.Cys1747Ser
NM_001079846.1:c.5239T>A	NP_001073315.1:p.Cys1747Ser
NM_004380.2:c.5353T>A	NP_004371.2:p.Cys1785Ser
XM_005255124.3:c.5308T>A	XP_005255181.1:p.Cys1770Ser
XM_005255125.3:c.4936T>A	XP_005255182.1:p.Cys1646Ser
XM_006720848.2:c.5092T>A	XP_006720911.1:p.Cys1698Ser
XM_011522380.1:c.5299T>A	XP_011520682.1:p.Cys1767Ser
XM_011522381.1:c.4600T>A	XP_011520683.1:p.Cys1534Ser
XM_005255124.4:c.5308T>A	XP_005255181.1:p.Cys1770Ser
XM_005255125.4:c.4936T>A	XP_005255182.1:p.Cys1646Ser
XM_006720848.3:c.5092T>A	XP_006720911.1:p.Cys1698Ser
XM_011522381.2:c.4600T>A	XP_011520683.1:p.Cys1534Ser
XM_017022944.1:c.5347T>A	XP_016878433.1:p.Cys1783Ser
NM_004380.3:c.5353T>A MANE Select	NP_004371.2:p.Cys1785Ser