Canonical Allele Identifier: CA235946

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731774A>G , CM000678.2:g.3731774A>G	GRCh38
NC_000016.9:g.3781775A>G , CM000678.1:g.3781775A>G	GRCh37
NC_000016.8:g.3721776A>G	NCBI36
NG_009873.1:g.153347T>C
NG_009873.2:g.153940T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4890+2T>C MANE Select	NP_004371.2:n.4890+2T>C
ENST00000262367.10:c.4890+2T>C MANE Select	ENSP00000262367.5:n.4890+2T>C
NM_001079846.1:c.4776+2T>C	NP_001073315.1:n.4776+2T>C
NM_004380.2:c.4890+2T>C	NP_004371.2:n.4890+2T>C
ENST00000262367.9:c.4890+2T>C	ENSP00000262367.5:n.4890+2T>C
ENST00000382070.7:c.4776+2T>C	ENSP00000371502.3:n.4776+2T>C
XM_005255124.3:c.4845+2T>C	XP_005255181.1:n.4845+2T>C
XM_005255124.4:c.4845+2T>C	XP_005255181.1:n.4845+2T>C
XM_005255125.3:c.4473+2T>C	XP_005255182.1:n.4473+2T>C
XM_005255125.4:c.4473+2T>C	XP_005255182.1:n.4473+2T>C
XM_006720848.2:c.4629+2T>C	XP_006720911.1:n.4629+2T>C
XM_006720848.3:c.4629+2T>C	XP_006720911.1:n.4629+2T>C
XM_011522380.1:c.4836+2T>C	XP_011520682.1:n.4836+2T>C
XM_011522381.1:c.4137+2T>C	XP_011520683.1:n.4137+2T>C
XM_011522381.2:c.4137+2T>C	XP_011520683.1:n.4137+2T>C
XM_017022944.1:c.4884+2T>C	XP_016878433.1:n.4884+2T>C