Canonical Allele Identifier: CA493393827

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728918-C-T
• MyVariant Identifiers: chr16:g.3778919C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728918C>T , CM000678.2:g.3728918C>T	GRCh38
NC_000016.9:g.3778919C>T , CM000678.1:g.3778919C>T	GRCh37
NC_000016.8:g.3718920C>T	NCBI36
NG_009873.1:g.156203G>A
NG_009873.2:g.156796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6129G>A MANE Select	ENSP00000262367.5:p.Gln2043=
ENST00000262367.9:c.6129G>A	ENSP00000262367.5:p.Gln2043=
ENST00000382070.7:c.6015G>A	ENSP00000371502.3:p.Gln2005=
NM_001079846.1:c.6015G>A	NP_001073315.1:p.Gln2005=
NM_004380.2:c.6129G>A	NP_004371.2:p.Gln2043=
XM_005255124.3:c.6084G>A	XP_005255181.1:p.Gln2028=
XM_005255125.3:c.5712G>A	XP_005255182.1:p.Gln1904=
XM_006720848.2:c.5868G>A	XP_006720911.1:p.Gln1956=
XM_011522380.1:c.6075G>A	XP_011520682.1:p.Gln2025=
XM_011522381.1:c.5376G>A	XP_011520683.1:p.Gln1792=
XM_005255124.4:c.6084G>A	XP_005255181.1:p.Gln2028=
XM_005255125.4:c.5712G>A	XP_005255182.1:p.Gln1904=
XM_006720848.3:c.5868G>A	XP_006720911.1:p.Gln1956=
XM_011522381.2:c.5376G>A	XP_011520683.1:p.Gln1792=
XM_017022944.1:c.6123G>A	XP_016878433.1:p.Gln2041=
NM_004380.3:c.6129G>A MANE Select	NP_004371.2:p.Gln2043=