Canonical Allele Identifier: CA394557008

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311248
• COSMIC: COSM3670194
• MyVariant Identifiers: chr16:g.3779665A>G (hg19) ; chr16:g.3729664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729664A>G , CM000678.2:g.3729664A>G	GRCh38
NC_000016.9:g.3779665A>G , CM000678.1:g.3779665A>G	GRCh37
NC_000016.8:g.3719666A>G	NCBI36
NG_009873.1:g.155457T>C
NG_009873.2:g.156050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5383T>C MANE Select	ENSP00000262367.5:p.Cys1795Arg
ENST00000262367.9:c.5383T>C	ENSP00000262367.5:p.Cys1795Arg
ENST00000382070.7:c.5269T>C	ENSP00000371502.3:p.Cys1757Arg
NM_001079846.1:c.5269T>C	NP_001073315.1:p.Cys1757Arg
NM_004380.2:c.5383T>C	NP_004371.2:p.Cys1795Arg
XM_005255124.3:c.5338T>C	XP_005255181.1:p.Cys1780Arg
XM_005255125.3:c.4966T>C	XP_005255182.1:p.Cys1656Arg
XM_006720848.2:c.5122T>C	XP_006720911.1:p.Cys1708Arg
XM_011522380.1:c.5329T>C	XP_011520682.1:p.Cys1777Arg
XM_011522381.1:c.4630T>C	XP_011520683.1:p.Cys1544Arg
XM_005255124.4:c.5338T>C	XP_005255181.1:p.Cys1780Arg
XM_005255125.4:c.4966T>C	XP_005255182.1:p.Cys1656Arg
XM_006720848.3:c.5122T>C	XP_006720911.1:p.Cys1708Arg
XM_011522381.2:c.4630T>C	XP_011520683.1:p.Cys1544Arg
XM_017022944.1:c.5377T>C	XP_016878433.1:p.Cys1793Arg
NM_004380.3:c.5383T>C MANE Select	NP_004371.2:p.Cys1795Arg