Canonical Allele Identifier: CA493394313

Gene: CREBBP

Linked Data

• dbSNP Id: rs1436796158
• gnomAD v4: 16-3729116-G-T
• MyVariant Identifiers: chr16:g.3779117G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729116G>T , CM000678.2:g.3729116G>T	GRCh38
NC_000016.9:g.3779117G>T , CM000678.1:g.3779117G>T	GRCh37
NC_000016.8:g.3719118G>T	NCBI36
NG_009873.1:g.156005C>A
NG_009873.2:g.156598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5931C>A MANE Select	ENSP00000262367.5:p.Ile1977=
ENST00000262367.9:c.5931C>A	ENSP00000262367.5:p.Ile1977=
ENST00000382070.7:c.5817C>A	ENSP00000371502.3:p.Ile1939=
NM_001079846.1:c.5817C>A	NP_001073315.1:p.Ile1939=
NM_004380.2:c.5931C>A	NP_004371.2:p.Ile1977=
XM_005255124.3:c.5886C>A	XP_005255181.1:p.Ile1962=
XM_005255125.3:c.5514C>A	XP_005255182.1:p.Ile1838=
XM_006720848.2:c.5670C>A	XP_006720911.1:p.Ile1890=
XM_011522380.1:c.5877C>A	XP_011520682.1:p.Ile1959=
XM_011522381.1:c.5178C>A	XP_011520683.1:p.Ile1726=
XM_005255124.4:c.5886C>A	XP_005255181.1:p.Ile1962=
XM_005255125.4:c.5514C>A	XP_005255182.1:p.Ile1838=
XM_006720848.3:c.5670C>A	XP_006720911.1:p.Ile1890=
XM_011522381.2:c.5178C>A	XP_011520683.1:p.Ile1726=
XM_017022944.1:c.5925C>A	XP_016878433.1:p.Ile1975=
NM_004380.3:c.5931C>A MANE Select	NP_004371.2:p.Ile1977=