Canonical Allele Identifier: CA7869250

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729307C>T , CM000678.2:g.3729307C>T	GRCh38
NC_000016.9:g.3779308C>T , CM000678.1:g.3779308C>T	GRCh37
NC_000016.8:g.3719309C>T	NCBI36
NG_009873.1:g.155814G>A
NG_009873.2:g.156407G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5740G>A MANE Select	NP_004371.2:p.Val1914Met
ENST00000262367.10:c.5740G>A MANE Select	ENSP00000262367.5:p.Val1914Met
NM_001079846.1:c.5626G>A	NP_001073315.1:p.Val1876Met
NM_004380.2:c.5740G>A	NP_004371.2:p.Val1914Met
ENST00000262367.9:c.5740G>A	ENSP00000262367.5:p.Val1914Met
ENST00000382070.7:c.5626G>A	ENSP00000371502.3:p.Val1876Met
XM_005255124.3:c.5695G>A	XP_005255181.1:p.Val1899Met
XM_005255124.4:c.5695G>A	XP_005255181.1:p.Val1899Met
XM_005255125.3:c.5323G>A	XP_005255182.1:p.Val1775Met
XM_005255125.4:c.5323G>A	XP_005255182.1:p.Val1775Met
XM_006720848.2:c.5479G>A	XP_006720911.1:p.Val1827Met
XM_006720848.3:c.5479G>A	XP_006720911.1:p.Val1827Met
XM_011522380.1:c.5686G>A	XP_011520682.1:p.Val1896Met
XM_011522381.1:c.4987G>A	XP_011520683.1:p.Val1663Met
XM_011522381.2:c.4987G>A	XP_011520683.1:p.Val1663Met
XM_017022944.1:c.5734G>A	XP_016878433.1:p.Val1912Met