Canonical Allele Identifier: CA394564555

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738648A>T , CM000678.2:g.3738648A>T	GRCh38
NC_000016.9:g.3788649A>T , CM000678.1:g.3788649A>T	GRCh37
NC_000016.8:g.3728650A>T	NCBI36
NG_009873.1:g.146473T>A
NG_009873.2:g.147066T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4305T>A MANE Select	NP_004371.2:p.Asp1435Glu
ENST00000262367.10:c.4305T>A MANE Select	ENSP00000262367.5:p.Asp1435Glu
NM_001079846.1:c.4191T>A	NP_001073315.1:p.Asp1397Glu
NM_004380.2:c.4305T>A	NP_004371.2:p.Asp1435Glu
ENST00000262367.9:c.4305T>A	ENSP00000262367.5:p.Asp1435Glu
ENST00000382070.7:c.4191T>A	ENSP00000371502.3:p.Asp1397Glu
ENST00000570939.2:c.2940T>A	ENSP00000461002.2:p.Asp980Glu
ENST00000574740.1:n.215+1751T>A
ENST00000576720.1:n.3217+930T>A
XM_005255124.3:c.4260T>A	XP_005255181.1:p.Asp1420Glu
XM_005255124.4:c.4260T>A	XP_005255181.1:p.Asp1420Glu
XM_005255125.3:c.3888T>A	XP_005255182.1:p.Asp1296Glu
XM_005255125.4:c.3888T>A	XP_005255182.1:p.Asp1296Glu
XM_006720848.2:c.4133+1751T>A	XP_006720911.1:n.4133+1751T>A
XM_006720848.3:c.4133+1751T>A	XP_006720911.1:n.4133+1751T>A
XM_011522380.1:c.4251T>A	XP_011520682.1:p.Asp1417Glu
XM_011522381.1:c.3552T>A	XP_011520683.1:p.Asp1184Glu
XM_011522381.2:c.3552T>A	XP_011520683.1:p.Asp1184Glu
XM_017022944.1:c.4299T>A	XP_016878433.1:p.Asp1433Glu