Canonical Allele Identifier: CA16620206

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767778C>G , CM000678.2:g.3767778C>G	GRCh38
NC_000016.9:g.3817779C>G , CM000678.1:g.3817779C>G	GRCh37
NC_000016.8:g.3757780C>G	NCBI36
NG_009873.1:g.117343G>C
NG_009873.2:g.117936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3192G>C MANE Select	ENSP00000262367.5:p.Glu1064Asp
ENST00000262367.9:c.3192G>C	ENSP00000262367.5:p.Glu1064Asp
ENST00000382070.7:c.3078G>C	ENSP00000371502.3:p.Glu1026Asp
ENST00000570939.2:c.1797G>C	ENSP00000461002.2:p.Glu599Asp
ENST00000573672.1:n.446G>C
NM_001079846.1:c.3078G>C	NP_001073315.1:p.Glu1026Asp
NM_004380.2:c.3192G>C	NP_004371.2:p.Glu1064Asp
XM_005255124.3:c.3147G>C	XP_005255181.1:p.Glu1049Asp
XM_005255125.3:c.2775G>C	XP_005255182.1:p.Glu925Asp
XM_006720848.2:c.3192G>C	XP_006720911.1:p.Glu1064Asp
XM_011522380.1:c.3138G>C	XP_011520682.1:p.Glu1046Asp
XM_011522381.1:c.2439G>C	XP_011520683.1:p.Glu813Asp
XM_011522382.1:c.3192G>C	XP_011520684.1:p.Glu1064Asp
XM_005255124.4:c.3147G>C	XP_005255181.1:p.Glu1049Asp
XM_005255125.4:c.2775G>C	XP_005255182.1:p.Glu925Asp
XM_006720848.3:c.3192G>C	XP_006720911.1:p.Glu1064Asp
XM_011522381.2:c.2439G>C	XP_011520683.1:p.Glu813Asp
XM_011522382.3:c.3192G>C	XP_011520684.1:p.Glu1064Asp
XM_017022944.1:c.3186G>C	XP_016878433.1:p.Glu1062Asp
NM_004380.3:c.3192G>C MANE Select	NP_004371.2:p.Glu1064Asp