Canonical Allele Identifier: CA394557192

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051859368
• MyVariant Identifiers: chr16:g.3779729C>G (hg19) ; chr16:g.3729728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729728C>G , CM000678.2:g.3729728C>G	GRCh38
NC_000016.9:g.3779729C>G , CM000678.1:g.3779729C>G	GRCh37
NC_000016.8:g.3719730C>G	NCBI36
NG_009873.1:g.155393G>C
NG_009873.2:g.155986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5319G>C MANE Select	ENSP00000262367.5:p.Gln1773His
ENST00000262367.9:c.5319G>C	ENSP00000262367.5:p.Gln1773His
ENST00000382070.7:c.5205G>C	ENSP00000371502.3:p.Gln1735His
NM_001079846.1:c.5205G>C	NP_001073315.1:p.Gln1735His
NM_004380.2:c.5319G>C	NP_004371.2:p.Gln1773His
XM_005255124.3:c.5274G>C	XP_005255181.1:p.Gln1758His
XM_005255125.3:c.4902G>C	XP_005255182.1:p.Gln1634His
XM_006720848.2:c.5058G>C	XP_006720911.1:p.Gln1686His
XM_011522380.1:c.5265G>C	XP_011520682.1:p.Gln1755His
XM_011522381.1:c.4566G>C	XP_011520683.1:p.Gln1522His
XM_005255124.4:c.5274G>C	XP_005255181.1:p.Gln1758His
XM_005255125.4:c.4902G>C	XP_005255182.1:p.Gln1634His
XM_006720848.3:c.5058G>C	XP_006720911.1:p.Gln1686His
XM_011522381.2:c.4566G>C	XP_011520683.1:p.Gln1522His
XM_017022944.1:c.5313G>C	XP_016878433.1:p.Gln1771His
NM_004380.3:c.5319G>C MANE Select	NP_004371.2:p.Gln1773His