Canonical Allele Identifier: CA3217598491

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3781290G= , CM000678.2:g.3781290G=	GRCh38
NC_000016.9:g.3831291G= , CM000678.1:g.3831291G=	GRCh37
NC_000016.8:g.3771292G=	NCBI36
NG_009873.1:g.103831C=
NG_009873.2:g.104424C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1590C= MANE Select	ENSP00000262367.5:p.Asn530=
ENST00000262367.9:c.1590C=	ENSP00000262367.5:p.Asn530=
ENST00000382070.7:c.1476C=	ENSP00000371502.3:p.Asn492=
ENST00000570939.2:c.195C=	ENSP00000461002.2:p.Asn65=
NM_001079846.1:c.1476C=	NP_001073315.1:p.Asn492=
NM_004380.2:c.1590C=	NP_004371.2:p.Asn530=
XM_005255124.3:c.1590C=	XP_005255181.1:p.Asn530=
XM_005255125.3:c.1590C=	XP_005255182.1:p.Asn530=
XM_006720848.2:c.1590C=	XP_006720911.1:p.Asn530=
XM_011522380.1:c.1536C=	XP_011520682.1:p.Asn512=
XM_011522381.1:c.837C=	XP_011520683.1:p.Asn279=
XM_011522382.1:c.1590C=	XP_011520684.1:p.Asn530=
XM_005255124.4:c.1590C=	XP_005255181.1:p.Asn530=
XM_005255125.4:c.1590C=	XP_005255182.1:p.Asn530=
XM_006720848.3:c.1590C=	XP_006720911.1:p.Asn530=
XM_011522381.2:c.837C=	XP_011520683.1:p.Asn279=
XM_011522382.3:c.1590C=	XP_011520684.1:p.Asn530=
XM_017022944.1:c.1590C=	XP_016878433.1:p.Asn530=
NM_004380.3:c.1590C= MANE Select	NP_004371.2:p.Asn530=