Canonical Allele Identifier: CA394556369

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310756
• COSMIC: COSM5009752
• MyVariant Identifiers: chr16:g.3779604C>T (hg19) ; chr16:g.3729603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729603C>T , CM000678.2:g.3729603C>T	GRCh38
NC_000016.9:g.3779604C>T , CM000678.1:g.3779604C>T	GRCh37
NC_000016.8:g.3719605C>T	NCBI36
NG_009873.1:g.155518G>A
NG_009873.2:g.156111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5444G>A MANE Select	ENSP00000262367.5:p.Gly1815Asp
ENST00000262367.9:c.5444G>A	ENSP00000262367.5:p.Gly1815Asp
ENST00000382070.7:c.5330G>A	ENSP00000371502.3:p.Gly1777Asp
NM_001079846.1:c.5330G>A	NP_001073315.1:p.Gly1777Asp
NM_004380.2:c.5444G>A	NP_004371.2:p.Gly1815Asp
XM_005255124.3:c.5399G>A	XP_005255181.1:p.Gly1800Asp
XM_005255125.3:c.5027G>A	XP_005255182.1:p.Gly1676Asp
XM_006720848.2:c.5183G>A	XP_006720911.1:p.Gly1728Asp
XM_011522380.1:c.5390G>A	XP_011520682.1:p.Gly1797Asp
XM_011522381.1:c.4691G>A	XP_011520683.1:p.Gly1564Asp
XM_005255124.4:c.5399G>A	XP_005255181.1:p.Gly1800Asp
XM_005255125.4:c.5027G>A	XP_005255182.1:p.Gly1676Asp
XM_006720848.3:c.5183G>A	XP_006720911.1:p.Gly1728Asp
XM_011522381.2:c.4691G>A	XP_011520683.1:p.Gly1564Asp
XM_017022944.1:c.5438G>A	XP_016878433.1:p.Gly1813Asp
NM_004380.3:c.5444G>A MANE Select	NP_004371.2:p.Gly1815Asp