Canonical Allele Identifier: CA394556472

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779628C>T (hg19) ; chr16:g.3729627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729627C>T , CM000678.2:g.3729627C>T	GRCh38
NC_000016.9:g.3779628C>T , CM000678.1:g.3779628C>T	GRCh37
NC_000016.8:g.3719629C>T	NCBI36
NG_009873.1:g.155494G>A
NG_009873.2:g.156087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5420G>A MANE Select	ENSP00000262367.5:p.Gly1807Asp
ENST00000262367.9:c.5420G>A	ENSP00000262367.5:p.Gly1807Asp
ENST00000382070.7:c.5306G>A	ENSP00000371502.3:p.Gly1769Asp
NM_001079846.1:c.5306G>A	NP_001073315.1:p.Gly1769Asp
NM_004380.2:c.5420G>A	NP_004371.2:p.Gly1807Asp
XM_005255124.3:c.5375G>A	XP_005255181.1:p.Gly1792Asp
XM_005255125.3:c.5003G>A	XP_005255182.1:p.Gly1668Asp
XM_006720848.2:c.5159G>A	XP_006720911.1:p.Gly1720Asp
XM_011522380.1:c.5366G>A	XP_011520682.1:p.Gly1789Asp
XM_011522381.1:c.4667G>A	XP_011520683.1:p.Gly1556Asp
XM_005255124.4:c.5375G>A	XP_005255181.1:p.Gly1792Asp
XM_005255125.4:c.5003G>A	XP_005255182.1:p.Gly1668Asp
XM_006720848.3:c.5159G>A	XP_006720911.1:p.Gly1720Asp
XM_011522381.2:c.4667G>A	XP_011520683.1:p.Gly1556Asp
XM_017022944.1:c.5414G>A	XP_016878433.1:p.Gly1805Asp
NM_004380.3:c.5420G>A MANE Select	NP_004371.2:p.Gly1807Asp