Canonical Allele Identifier: CA394557091

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051858361
• MyVariant Identifiers: chr16:g.3779703G>T (hg19) ; chr16:g.3729702G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729702G>T , CM000678.2:g.3729702G>T	GRCh38
NC_000016.9:g.3779703G>T , CM000678.1:g.3779703G>T	GRCh37
NC_000016.8:g.3719704G>T	NCBI36
NG_009873.1:g.155419C>A
NG_009873.2:g.156012C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5345C>A MANE Select	ENSP00000262367.5:p.Ala1782Glu
ENST00000262367.9:c.5345C>A	ENSP00000262367.5:p.Ala1782Glu
ENST00000382070.7:c.5231C>A	ENSP00000371502.3:p.Ala1744Glu
NM_001079846.1:c.5231C>A	NP_001073315.1:p.Ala1744Glu
NM_004380.2:c.5345C>A	NP_004371.2:p.Ala1782Glu
XM_005255124.3:c.5300C>A	XP_005255181.1:p.Ala1767Glu
XM_005255125.3:c.4928C>A	XP_005255182.1:p.Ala1643Glu
XM_006720848.2:c.5084C>A	XP_006720911.1:p.Ala1695Glu
XM_011522380.1:c.5291C>A	XP_011520682.1:p.Ala1764Glu
XM_011522381.1:c.4592C>A	XP_011520683.1:p.Ala1531Glu
XM_005255124.4:c.5300C>A	XP_005255181.1:p.Ala1767Glu
XM_005255125.4:c.4928C>A	XP_005255182.1:p.Ala1643Glu
XM_006720848.3:c.5084C>A	XP_006720911.1:p.Ala1695Glu
XM_011522381.2:c.4592C>A	XP_011520683.1:p.Ala1531Glu
XM_017022944.1:c.5339C>A	XP_016878433.1:p.Ala1780Glu
NM_004380.3:c.5345C>A MANE Select	NP_004371.2:p.Ala1782Glu