Canonical Allele Identifier: CA394557385

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051860306
• gnomAD v3: 16-3729773-C-A
• gnomAD v4: 16-3729773-C-A
• MyVariant Identifiers: chr16:g.3779774C>A (hg19) ; chr16:g.3729773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729773C>A , CM000678.2:g.3729773C>A	GRCh38
NC_000016.9:g.3779774C>A , CM000678.1:g.3779774C>A	GRCh37
NC_000016.8:g.3719775C>A	NCBI36
NG_009873.1:g.155348G>T
NG_009873.2:g.155941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5274G>T MANE Select	ENSP00000262367.5:p.Glu1758Asp
ENST00000262367.9:c.5274G>T	ENSP00000262367.5:p.Glu1758Asp
ENST00000382070.7:c.5160G>T	ENSP00000371502.3:p.Glu1720Asp
NM_001079846.1:c.5160G>T	NP_001073315.1:p.Glu1720Asp
NM_004380.2:c.5274G>T	NP_004371.2:p.Glu1758Asp
XM_005255124.3:c.5229G>T	XP_005255181.1:p.Glu1743Asp
XM_005255125.3:c.4857G>T	XP_005255182.1:p.Glu1619Asp
XM_006720848.2:c.5013G>T	XP_006720911.1:p.Glu1671Asp
XM_011522380.1:c.5220G>T	XP_011520682.1:p.Glu1740Asp
XM_011522381.1:c.4521G>T	XP_011520683.1:p.Glu1507Asp
XM_005255124.4:c.5229G>T	XP_005255181.1:p.Glu1743Asp
XM_005255125.4:c.4857G>T	XP_005255182.1:p.Glu1619Asp
XM_006720848.3:c.5013G>T	XP_006720911.1:p.Glu1671Asp
XM_011522381.2:c.4521G>T	XP_011520683.1:p.Glu1507Asp
XM_017022944.1:c.5268G>T	XP_016878433.1:p.Glu1756Asp
NM_004380.3:c.5274G>T MANE Select	NP_004371.2:p.Glu1758Asp