Canonical Allele Identifier: CA243761

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728301C>T , CM000678.2:g.3728301C>T	GRCh38
NC_000016.9:g.3778302C>T , CM000678.1:g.3778302C>T	GRCh37
NC_000016.8:g.3718303C>T	NCBI36
NG_009873.1:g.156820G>A
NG_009873.2:g.157413G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6746G>A MANE Select	NP_004371.2:p.Arg2249His
ENST00000262367.10:c.6746G>A MANE Select	ENSP00000262367.5:p.Arg2249His
NM_001079846.1:c.6632G>A	NP_001073315.1:p.Arg2211His
NM_004380.2:c.6746G>A	NP_004371.2:p.Arg2249His
ENST00000262367.9:c.6746G>A	ENSP00000262367.5:p.Arg2249His
ENST00000382070.7:c.6632G>A	ENSP00000371502.3:p.Arg2211His
XM_005255124.3:c.6701G>A	XP_005255181.1:p.Arg2234His
XM_005255124.4:c.6701G>A	XP_005255181.1:p.Arg2234His
XM_005255125.3:c.6329G>A	XP_005255182.1:p.Arg2110His
XM_005255125.4:c.6329G>A	XP_005255182.1:p.Arg2110His
XM_006720848.2:c.6485G>A	XP_006720911.1:p.Arg2162His
XM_006720848.3:c.6485G>A	XP_006720911.1:p.Arg2162His
XM_011522380.1:c.6692G>A	XP_011520682.1:p.Arg2231His
XM_011522381.1:c.5993G>A	XP_011520683.1:p.Arg1998His
XM_011522381.2:c.5993G>A	XP_011520683.1:p.Arg1998His
XM_017022944.1:c.6740G>A	XP_016878433.1:p.Arg2247His