Canonical Allele Identifier: CA394554591

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306701
• MyVariant Identifiers: chr16:g.3779032T>A (hg19) ; chr16:g.3729031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729031T>A , CM000678.2:g.3729031T>A	GRCh38
NC_000016.9:g.3779032T>A , CM000678.1:g.3779032T>A	GRCh37
NC_000016.8:g.3719033T>A	NCBI36
NG_009873.1:g.156090A>T
NG_009873.2:g.156683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6016A>T MANE Select	ENSP00000262367.5:p.Asn2006Tyr
ENST00000262367.9:c.6016A>T	ENSP00000262367.5:p.Asn2006Tyr
ENST00000382070.7:c.5902A>T	ENSP00000371502.3:p.Asn1968Tyr
NM_001079846.1:c.5902A>T	NP_001073315.1:p.Asn1968Tyr
NM_004380.2:c.6016A>T	NP_004371.2:p.Asn2006Tyr
XM_005255124.3:c.5971A>T	XP_005255181.1:p.Asn1991Tyr
XM_005255125.3:c.5599A>T	XP_005255182.1:p.Asn1867Tyr
XM_006720848.2:c.5755A>T	XP_006720911.1:p.Asn1919Tyr
XM_011522380.1:c.5962A>T	XP_011520682.1:p.Asn1988Tyr
XM_011522381.1:c.5263A>T	XP_011520683.1:p.Asn1755Tyr
XM_005255124.4:c.5971A>T	XP_005255181.1:p.Asn1991Tyr
XM_005255125.4:c.5599A>T	XP_005255182.1:p.Asn1867Tyr
XM_006720848.3:c.5755A>T	XP_006720911.1:p.Asn1919Tyr
XM_011522381.2:c.5263A>T	XP_011520683.1:p.Asn1755Tyr
XM_017022944.1:c.6010A>T	XP_016878433.1:p.Asn2004Tyr
NM_004380.3:c.6016A>T MANE Select	NP_004371.2:p.Asn2006Tyr