Canonical Allele Identifier: CA2731835593

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151297552

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727669T>G , CM000678.2:g.3727669T>G	GRCh38
NC_000016.9:g.3777670T>G , CM000678.1:g.3777670T>G	GRCh37
NC_000016.8:g.3717671T>G	NCBI36
NG_009873.1:g.157452A>C
NG_009873.2:g.158045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.*49A>C MANE Select	ENSP00000262367.5:n.*49A>C
ENST00000262367.9:c.*49A>C	ENSP00000262367.5:n.*49A>C
ENST00000382070.7:c.*49A>C	ENSP00000371502.3:n.*49A>C
NM_001079846.1:c.*49A>C	NP_001073315.1:n.*49A>C
NM_004380.2:c.*49A>C	NP_004371.2:n.*49A>C
XM_005255124.3:c.*49A>C	XP_005255181.1:n.*49A>C
XM_005255125.3:c.*49A>C	XP_005255182.1:n.*49A>C
XM_006720848.2:c.*49A>C	XP_006720911.1:n.*49A>C
XM_011522380.1:c.*49A>C	XP_011520682.1:n.*49A>C
XM_011522381.1:c.*49A>C	XP_011520683.1:n.*49A>C
XM_005255124.4:c.*49A>C	XP_005255181.1:n.*49A>C
XM_005255125.4:c.*49A>C	XP_005255182.1:n.*49A>C
XM_006720848.3:c.*49A>C	XP_006720911.1:n.*49A>C
XM_011522381.2:c.*49A>C	XP_011520683.1:n.*49A>C
XM_017022944.1:c.*49A>C	XP_016878433.1:n.*49A>C
NM_004380.3:c.*49A>C MANE Select	NP_004371.2:n.*49A>C