Canonical Allele Identifier: CA7870248

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777630C>T , CM000678.2:g.3777630C>T	GRCh38
NC_000016.9:g.3827631C>T , CM000678.1:g.3827631C>T	GRCh37
NC_000016.8:g.3767632C>T	NCBI36
NG_009873.1:g.107491G>A
NG_009873.2:g.108084G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2141G>A MANE Select	NP_004371.2:p.Arg714His
ENST00000262367.10:c.2141G>A MANE Select	ENSP00000262367.5:p.Arg714His
NM_001079846.1:c.2027G>A	NP_001073315.1:p.Arg676His
NM_004380.2:c.2141G>A	NP_004371.2:p.Arg714His
ENST00000262367.9:c.2141G>A	ENSP00000262367.5:p.Arg714His
ENST00000382070.7:c.2027G>A	ENSP00000371502.3:p.Arg676His
ENST00000570939.2:c.746G>A	ENSP00000461002.2:p.Arg249His
ENST00000571826.5:c.190G>A
ENST00000572134.1:c.426+381G>A
XM_005255124.3:c.2113+381G>A	XP_005255181.1:n.2113+381G>A
XM_005255124.4:c.2113+381G>A	XP_005255181.1:n.2113+381G>A
XM_005255125.3:c.2141G>A	XP_005255182.1:p.Arg714His
XM_005255125.4:c.2141G>A	XP_005255182.1:p.Arg714His
XM_006720848.2:c.2141G>A	XP_006720911.1:p.Arg714His
XM_006720848.3:c.2141G>A	XP_006720911.1:p.Arg714His
XM_011522380.1:c.2087G>A	XP_011520682.1:p.Arg696His
XM_011522381.1:c.1388G>A	XP_011520683.1:p.Arg463His
XM_011522381.2:c.1388G>A	XP_011520683.1:p.Arg463His
XM_011522382.1:c.2141G>A	XP_011520684.1:p.Arg714His
XM_011522382.3:c.2141G>A	XP_011520684.1:p.Arg714His
XM_017022944.1:c.2141G>A	XP_016878433.1:p.Arg714His