Canonical Allele Identifier: CA394555924

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729444C>T , CM000678.2:g.3729444C>T	GRCh38
NC_000016.9:g.3779445C>T , CM000678.1:g.3779445C>T	GRCh37
NC_000016.8:g.3719446C>T	NCBI36
NG_009873.1:g.155677G>A
NG_009873.2:g.156270G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5603G>A MANE Select	NP_004371.2:p.Arg1868Gln
ENST00000262367.10:c.5603G>A MANE Select	ENSP00000262367.5:p.Arg1868Gln
NM_001079846.1:c.5489G>A	NP_001073315.1:p.Arg1830Gln
NM_004380.2:c.5603G>A	NP_004371.2:p.Arg1868Gln
ENST00000262367.9:c.5603G>A	ENSP00000262367.5:p.Arg1868Gln
ENST00000382070.7:c.5489G>A	ENSP00000371502.3:p.Arg1830Gln
XM_005255124.3:c.5558G>A	XP_005255181.1:p.Arg1853Gln
XM_005255124.4:c.5558G>A	XP_005255181.1:p.Arg1853Gln
XM_005255125.3:c.5186G>A	XP_005255182.1:p.Arg1729Gln
XM_005255125.4:c.5186G>A	XP_005255182.1:p.Arg1729Gln
XM_006720848.2:c.5342G>A	XP_006720911.1:p.Arg1781Gln
XM_006720848.3:c.5342G>A	XP_006720911.1:p.Arg1781Gln
XM_011522380.1:c.5549G>A	XP_011520682.1:p.Arg1850Gln
XM_011522381.1:c.4850G>A	XP_011520683.1:p.Arg1617Gln
XM_011522381.2:c.4850G>A	XP_011520683.1:p.Arg1617Gln
XM_017022944.1:c.5597G>A	XP_016878433.1:p.Arg1866Gln