Canonical Allele Identifier: CA394554586

Gene: CREBBP

Linked Data

• dbSNP Id: rs1444185434
• MyVariant Identifiers: chr16:g.3779031T>A (hg19) ; chr16:g.3729030T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729030T>A , CM000678.2:g.3729030T>A	GRCh38
NC_000016.9:g.3779031T>A , CM000678.1:g.3779031T>A	GRCh37
NC_000016.8:g.3719032T>A	NCBI36
NG_009873.1:g.156091A>T
NG_009873.2:g.156684A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6017A>T MANE Select	ENSP00000262367.5:p.Asn2006Ile
ENST00000262367.9:c.6017A>T	ENSP00000262367.5:p.Asn2006Ile
ENST00000382070.7:c.5903A>T	ENSP00000371502.3:p.Asn1968Ile
NM_001079846.1:c.5903A>T	NP_001073315.1:p.Asn1968Ile
NM_004380.2:c.6017A>T	NP_004371.2:p.Asn2006Ile
XM_005255124.3:c.5972A>T	XP_005255181.1:p.Asn1991Ile
XM_005255125.3:c.5600A>T	XP_005255182.1:p.Asn1867Ile
XM_006720848.2:c.5756A>T	XP_006720911.1:p.Asn1919Ile
XM_011522380.1:c.5963A>T	XP_011520682.1:p.Asn1988Ile
XM_011522381.1:c.5264A>T	XP_011520683.1:p.Asn1755Ile
XM_005255124.4:c.5972A>T	XP_005255181.1:p.Asn1991Ile
XM_005255125.4:c.5600A>T	XP_005255182.1:p.Asn1867Ile
XM_006720848.3:c.5756A>T	XP_006720911.1:p.Asn1919Ile
XM_011522381.2:c.5264A>T	XP_011520683.1:p.Asn1755Ile
XM_017022944.1:c.6011A>T	XP_016878433.1:p.Asn2004Ile
NM_004380.3:c.6017A>T MANE Select	NP_004371.2:p.Asn2006Ile