Canonical Allele Identifier: CA493394218

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729731-G-T
• MyVariant Identifiers: chr16:g.3779732G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729731G>T , CM000678.2:g.3729731G>T	GRCh38
NC_000016.9:g.3779732G>T , CM000678.1:g.3779732G>T	GRCh37
NC_000016.8:g.3719733G>T	NCBI36
NG_009873.1:g.155390C>A
NG_009873.2:g.155983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5316C>A MANE Select	ENSP00000262367.5:p.Ile1772=
ENST00000262367.9:c.5316C>A	ENSP00000262367.5:p.Ile1772=
ENST00000382070.7:c.5202C>A	ENSP00000371502.3:p.Ile1734=
NM_001079846.1:c.5202C>A	NP_001073315.1:p.Ile1734=
NM_004380.2:c.5316C>A	NP_004371.2:p.Ile1772=
XM_005255124.3:c.5271C>A	XP_005255181.1:p.Ile1757=
XM_005255125.3:c.4899C>A	XP_005255182.1:p.Ile1633=
XM_006720848.2:c.5055C>A	XP_006720911.1:p.Ile1685=
XM_011522380.1:c.5262C>A	XP_011520682.1:p.Ile1754=
XM_011522381.1:c.4563C>A	XP_011520683.1:p.Ile1521=
XM_005255124.4:c.5271C>A	XP_005255181.1:p.Ile1757=
XM_005255125.4:c.4899C>A	XP_005255182.1:p.Ile1633=
XM_006720848.3:c.5055C>A	XP_006720911.1:p.Ile1685=
XM_011522381.2:c.4563C>A	XP_011520683.1:p.Ile1521=
XM_017022944.1:c.5310C>A	XP_016878433.1:p.Ile1770=
NM_004380.3:c.5316C>A MANE Select	NP_004371.2:p.Ile1772=