Canonical Allele Identifier: CA394557353

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151312012
• gnomAD v4: 16-3729765-G-T
• COSMIC: COSM6295821
• MyVariant Identifiers: chr16:g.3779766G>T (hg19) ; chr16:g.3729765G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729765G>T , CM000678.2:g.3729765G>T	GRCh38
NC_000016.9:g.3779766G>T , CM000678.1:g.3779766G>T	GRCh37
NC_000016.8:g.3719767G>T	NCBI36
NG_009873.1:g.155356C>A
NG_009873.2:g.155949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5282C>A MANE Select	ENSP00000262367.5:p.Ser1761Ter
ENST00000262367.9:c.5282C>A	ENSP00000262367.5:p.Ser1761Ter
ENST00000382070.7:c.5168C>A	ENSP00000371502.3:p.Ser1723Ter
NM_001079846.1:c.5168C>A	NP_001073315.1:p.Ser1723Ter
NM_004380.2:c.5282C>A	NP_004371.2:p.Ser1761Ter
XM_005255124.3:c.5237C>A	XP_005255181.1:p.Ser1746Ter
XM_005255125.3:c.4865C>A	XP_005255182.1:p.Ser1622Ter
XM_006720848.2:c.5021C>A	XP_006720911.1:p.Ser1674Ter
XM_011522380.1:c.5228C>A	XP_011520682.1:p.Ser1743Ter
XM_011522381.1:c.4529C>A	XP_011520683.1:p.Ser1510Ter
XM_005255124.4:c.5237C>A	XP_005255181.1:p.Ser1746Ter
XM_005255125.4:c.4865C>A	XP_005255182.1:p.Ser1622Ter
XM_006720848.3:c.5021C>A	XP_006720911.1:p.Ser1674Ter
XM_011522381.2:c.4529C>A	XP_011520683.1:p.Ser1510Ter
XM_017022944.1:c.5276C>A	XP_016878433.1:p.Ser1759Ter
NM_004380.3:c.5282C>A MANE Select	NP_004371.2:p.Ser1761Ter