Canonical Allele Identifier: CA394557596

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729820-C-T
• MyVariant Identifiers: chr16:g.3779821C>T (hg19) ; chr16:g.3729820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729820C>T , CM000678.2:g.3729820C>T	GRCh38
NC_000016.9:g.3779821C>T , CM000678.1:g.3779821C>T	GRCh37
NC_000016.8:g.3719822C>T	NCBI36
NG_009873.1:g.155301G>A
NG_009873.2:g.155894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5227G>A MANE Select	ENSP00000262367.5:p.Val1743Met
ENST00000262367.9:c.5227G>A	ENSP00000262367.5:p.Val1743Met
ENST00000382070.7:c.5113G>A	ENSP00000371502.3:p.Val1705Met
NM_001079846.1:c.5113G>A	NP_001073315.1:p.Val1705Met
NM_004380.2:c.5227G>A	NP_004371.2:p.Val1743Met
XM_005255124.3:c.5182G>A	XP_005255181.1:p.Val1728Met
XM_005255125.3:c.4810G>A	XP_005255182.1:p.Val1604Met
XM_006720848.2:c.4966G>A	XP_006720911.1:p.Val1656Met
XM_011522380.1:c.5173G>A	XP_011520682.1:p.Val1725Met
XM_011522381.1:c.4474G>A	XP_011520683.1:p.Val1492Met
XM_005255124.4:c.5182G>A	XP_005255181.1:p.Val1728Met
XM_005255125.4:c.4810G>A	XP_005255182.1:p.Val1604Met
XM_006720848.3:c.4966G>A	XP_006720911.1:p.Val1656Met
XM_011522381.2:c.4474G>A	XP_011520683.1:p.Val1492Met
XM_017022944.1:c.5221G>A	XP_016878433.1:p.Val1741Met
NM_004380.3:c.5227G>A MANE Select	NP_004371.2:p.Val1743Met