Canonical Allele Identifier: CA206935

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3782938A>G , CM000678.2:g.3782938A>G	GRCh38
NC_000016.9:g.3832939A>G , CM000678.1:g.3832939A>G	GRCh37
NC_000016.8:g.3772940A>G	NCBI36
NG_009873.1:g.102183T>C
NG_009873.2:g.102776T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.1331-12T>C MANE Select	NP_004371.2:n.1331-12T>C
ENST00000262367.10:c.1331-12T>C MANE Select	ENSP00000262367.5:n.1331-12T>C
NM_001079846.1:c.1217-12T>C	NP_001073315.1:n.1217-12T>C
NM_004380.2:c.1331-12T>C	NP_004371.2:n.1331-12T>C
ENST00000262367.9:c.1331-12T>C	ENSP00000262367.5:n.1331-12T>C
ENST00000382070.7:c.1217-12T>C	ENSP00000371502.3:n.1217-12T>C
ENST00000635753.1:n.64-12T>C
ENST00000636002.1:n.44-12T>C
XM_005255124.3:c.1331-12T>C	XP_005255181.1:n.1331-12T>C
XM_005255124.4:c.1331-12T>C	XP_005255181.1:n.1331-12T>C
XM_005255125.3:c.1331-12T>C	XP_005255182.1:n.1331-12T>C
XM_005255125.4:c.1331-12T>C	XP_005255182.1:n.1331-12T>C
XM_006720848.2:c.1331-12T>C	XP_006720911.1:n.1331-12T>C
XM_006720848.3:c.1331-12T>C	XP_006720911.1:n.1331-12T>C
XM_011522380.1:c.1277-12T>C	XP_011520682.1:n.1277-12T>C
XM_011522381.1:c.578-12T>C	XP_011520683.1:n.578-12T>C
XM_011522381.2:c.578-12T>C	XP_011520683.1:n.578-12T>C
XM_011522382.1:c.1331-12T>C	XP_011520684.1:n.1331-12T>C
XM_011522382.3:c.1331-12T>C	XP_011520684.1:n.1331-12T>C
XM_017022944.1:c.1331-12T>C	XP_016878433.1:n.1331-12T>C