Canonical Allele Identifier: CA394550176

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051784943
• gnomAD v4: 16-3727778-T-G
• MyVariant Identifiers: chr16:g.3777779T>G (hg19) ; chr16:g.3727778T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727778T>G , CM000678.2:g.3727778T>G	GRCh38
NC_000016.9:g.3777779T>G , CM000678.1:g.3777779T>G	GRCh37
NC_000016.8:g.3717780T>G	NCBI36
NG_009873.1:g.157343A>C
NG_009873.2:g.157936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7269A>C MANE Select	ENSP00000262367.5:p.Glu2423Asp
ENST00000262367.9:c.7269A>C	ENSP00000262367.5:p.Glu2423Asp
ENST00000382070.7:c.7155A>C	ENSP00000371502.3:p.Glu2385Asp
NM_001079846.1:c.7155A>C	NP_001073315.1:p.Glu2385Asp
NM_004380.2:c.7269A>C	NP_004371.2:p.Glu2423Asp
XM_005255124.3:c.7224A>C	XP_005255181.1:p.Glu2408Asp
XM_005255125.3:c.6852A>C	XP_005255182.1:p.Glu2284Asp
XM_006720848.2:c.7008A>C	XP_006720911.1:p.Glu2336Asp
XM_011522380.1:c.7215A>C	XP_011520682.1:p.Glu2405Asp
XM_011522381.1:c.6516A>C	XP_011520683.1:p.Glu2172Asp
XM_005255124.4:c.7224A>C	XP_005255181.1:p.Glu2408Asp
XM_005255125.4:c.6852A>C	XP_005255182.1:p.Glu2284Asp
XM_006720848.3:c.7008A>C	XP_006720911.1:p.Glu2336Asp
XM_011522381.2:c.6516A>C	XP_011520683.1:p.Glu2172Asp
XM_017022944.1:c.7263A>C	XP_016878433.1:p.Glu2421Asp
NM_004380.3:c.7269A>C MANE Select	NP_004371.2:p.Glu2423Asp