Canonical Allele Identifier: CA394566120

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3860736A>T (hg19) ; chr16:g.3810735A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810735A>T , CM000678.2:g.3810735A>T	GRCh38
NC_000016.9:g.3860736A>T , CM000678.1:g.3860736A>T	GRCh37
NC_000016.8:g.3800737A>T	NCBI36
NG_009873.1:g.74386T>A
NG_009873.2:g.74979T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.843T>A MANE Select	ENSP00000262367.5:p.Ser281Arg
ENST00000635899.1:n.85T>A
ENST00000262367.9:c.843T>A	ENSP00000262367.5:p.Ser281Arg
ENST00000382070.7:c.843T>A	ENSP00000371502.3:p.Ser281Arg
NM_001079846.1:c.843T>A	NP_001073315.1:p.Ser281Arg
NM_004380.2:c.843T>A	NP_004371.2:p.Ser281Arg
XM_005255124.3:c.843T>A	XP_005255181.1:p.Ser281Arg
XM_005255125.3:c.843T>A	XP_005255182.1:p.Ser281Arg
XM_006720848.2:c.843T>A	XP_006720911.1:p.Ser281Arg
XM_011522380.1:c.789T>A	XP_011520682.1:p.Ser263Arg
XM_011522381.1:c.90T>A	XP_011520683.1:p.Ser30Arg
XM_011522382.1:c.843T>A	XP_011520684.1:p.Ser281Arg
XM_005255124.4:c.843T>A	XP_005255181.1:p.Ser281Arg
XM_005255125.4:c.843T>A	XP_005255182.1:p.Ser281Arg
XM_006720848.3:c.843T>A	XP_006720911.1:p.Ser281Arg
XM_011522381.2:c.90T>A	XP_011520683.1:p.Ser30Arg
XM_011522382.3:c.843T>A	XP_011520684.1:p.Ser281Arg
XM_017022944.1:c.843T>A	XP_016878433.1:p.Ser281Arg
NM_004380.3:c.843T>A MANE Select	NP_004371.2:p.Ser281Arg