Canonical Allele Identifier: CA493394353

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729857-G-T
• MyVariant Identifiers: chr16:g.3779858G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729857G>T , CM000678.2:g.3729857G>T	GRCh38
NC_000016.9:g.3779858G>T , CM000678.1:g.3779858G>T	GRCh37
NC_000016.8:g.3719859G>T	NCBI36
NG_009873.1:g.155264C>A
NG_009873.2:g.155857C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5190C>A MANE Select	ENSP00000262367.5:p.Ile1730=
ENST00000262367.9:c.5190C>A	ENSP00000262367.5:p.Ile1730=
ENST00000382070.7:c.5076C>A	ENSP00000371502.3:p.Ile1692=
NM_001079846.1:c.5076C>A	NP_001073315.1:p.Ile1692=
NM_004380.2:c.5190C>A	NP_004371.2:p.Ile1730=
XM_005255124.3:c.5145C>A	XP_005255181.1:p.Ile1715=
XM_005255125.3:c.4773C>A	XP_005255182.1:p.Ile1591=
XM_006720848.2:c.4929C>A	XP_006720911.1:p.Ile1643=
XM_011522380.1:c.5136C>A	XP_011520682.1:p.Ile1712=
XM_011522381.1:c.4437C>A	XP_011520683.1:p.Ile1479=
XM_005255124.4:c.5145C>A	XP_005255181.1:p.Ile1715=
XM_005255125.4:c.4773C>A	XP_005255182.1:p.Ile1591=
XM_006720848.3:c.4929C>A	XP_006720911.1:p.Ile1643=
XM_011522381.2:c.4437C>A	XP_011520683.1:p.Ile1479=
XM_017022944.1:c.5184C>A	XP_016878433.1:p.Ile1728=
NM_004380.3:c.5190C>A MANE Select	NP_004371.2:p.Ile1730=