Canonical Allele Identifier: CA394556118

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310173
• MyVariant Identifiers: chr16:g.3779523A>G (hg19) ; chr16:g.3729522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729522A>G , CM000678.2:g.3729522A>G	GRCh38
NC_000016.9:g.3779523A>G , CM000678.1:g.3779523A>G	GRCh37
NC_000016.8:g.3719524A>G	NCBI36
NG_009873.1:g.155599T>C
NG_009873.2:g.156192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5525T>C MANE Select	ENSP00000262367.5:p.Phe1842Ser
ENST00000262367.9:c.5525T>C	ENSP00000262367.5:p.Phe1842Ser
ENST00000382070.7:c.5411T>C	ENSP00000371502.3:p.Phe1804Ser
NM_001079846.1:c.5411T>C	NP_001073315.1:p.Phe1804Ser
NM_004380.2:c.5525T>C	NP_004371.2:p.Phe1842Ser
XM_005255124.3:c.5480T>C	XP_005255181.1:p.Phe1827Ser
XM_005255125.3:c.5108T>C	XP_005255182.1:p.Phe1703Ser
XM_006720848.2:c.5264T>C	XP_006720911.1:p.Phe1755Ser
XM_011522380.1:c.5471T>C	XP_011520682.1:p.Phe1824Ser
XM_011522381.1:c.4772T>C	XP_011520683.1:p.Phe1591Ser
XM_005255124.4:c.5480T>C	XP_005255181.1:p.Phe1827Ser
XM_005255125.4:c.5108T>C	XP_005255182.1:p.Phe1703Ser
XM_006720848.3:c.5264T>C	XP_006720911.1:p.Phe1755Ser
XM_011522381.2:c.4772T>C	XP_011520683.1:p.Phe1591Ser
XM_017022944.1:c.5519T>C	XP_016878433.1:p.Phe1840Ser
NM_004380.3:c.5525T>C MANE Select	NP_004371.2:p.Phe1842Ser