Canonical Allele Identifier: CA357158

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729810C>A , CM000678.2:g.3729810C>A	GRCh38
NC_000016.9:g.3779811C>A , CM000678.1:g.3779811C>A	GRCh37
NC_000016.8:g.3719812C>A	NCBI36
NG_009873.1:g.155311G>T
NG_009873.2:g.155904G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5237G>T MANE Select	NP_004371.2:p.Gly1746Val
ENST00000262367.10:c.5237G>T MANE Select	ENSP00000262367.5:p.Gly1746Val
NM_001079846.1:c.5123G>T	NP_001073315.1:p.Gly1708Val
NM_004380.2:c.5237G>T	NP_004371.2:p.Gly1746Val
ENST00000262367.9:c.5237G>T	ENSP00000262367.5:p.Gly1746Val
ENST00000382070.7:c.5123G>T	ENSP00000371502.3:p.Gly1708Val
XM_005255124.3:c.5192G>T	XP_005255181.1:p.Gly1731Val
XM_005255124.4:c.5192G>T	XP_005255181.1:p.Gly1731Val
XM_005255125.3:c.4820G>T	XP_005255182.1:p.Gly1607Val
XM_005255125.4:c.4820G>T	XP_005255182.1:p.Gly1607Val
XM_006720848.2:c.4976G>T	XP_006720911.1:p.Gly1659Val
XM_006720848.3:c.4976G>T	XP_006720911.1:p.Gly1659Val
XM_011522380.1:c.5183G>T	XP_011520682.1:p.Gly1728Val
XM_011522381.1:c.4484G>T	XP_011520683.1:p.Gly1495Val
XM_011522381.2:c.4484G>T	XP_011520683.1:p.Gly1495Val
XM_017022944.1:c.5231G>T	XP_016878433.1:p.Gly1744Val