Canonical Allele Identifier: CA7869270

Gene: CREBBP

Linked Data

• dbSNP Id: rs770325046
• ExAC: 16:3779475 C / T
• gnomAD v2: 16-3779475-C-T
• gnomAD v4: 16-3729474-C-T
• COSMIC: COSM2919921
• MyVariant Identifiers: chr16:g.3779475C>T (hg19) ; chr16:g.3729474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729474C>T , CM000678.2:g.3729474C>T	GRCh38
NC_000016.9:g.3779475C>T , CM000678.1:g.3779475C>T	GRCh37
NC_000016.8:g.3719476C>T	NCBI36
NG_009873.1:g.155647G>A
NG_009873.2:g.156240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5573G>A MANE Select	ENSP00000262367.5:p.Arg1858His
ENST00000262367.9:c.5573G>A	ENSP00000262367.5:p.Arg1858His
ENST00000382070.7:c.5459G>A	ENSP00000371502.3:p.Arg1820His
NM_001079846.1:c.5459G>A	NP_001073315.1:p.Arg1820His
NM_004380.2:c.5573G>A	NP_004371.2:p.Arg1858His
XM_005255124.3:c.5528G>A	XP_005255181.1:p.Arg1843His
XM_005255125.3:c.5156G>A	XP_005255182.1:p.Arg1719His
XM_006720848.2:c.5312G>A	XP_006720911.1:p.Arg1771His
XM_011522380.1:c.5519G>A	XP_011520682.1:p.Arg1840His
XM_011522381.1:c.4820G>A	XP_011520683.1:p.Arg1607His
XM_005255124.4:c.5528G>A	XP_005255181.1:p.Arg1843His
XM_005255125.4:c.5156G>A	XP_005255182.1:p.Arg1719His
XM_006720848.3:c.5312G>A	XP_006720911.1:p.Arg1771His
XM_011522381.2:c.4820G>A	XP_011520683.1:p.Arg1607His
XM_017022944.1:c.5567G>A	XP_016878433.1:p.Arg1856His
NM_004380.3:c.5573G>A MANE Select	NP_004371.2:p.Arg1858His