Canonical Allele Identifier: CA493394170

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779684G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729683G>C , CM000678.2:g.3729683G>C	GRCh38
NC_000016.9:g.3779684G>C , CM000678.1:g.3779684G>C	GRCh37
NC_000016.8:g.3719685G>C	NCBI36
NG_009873.1:g.155438C>G
NG_009873.2:g.156031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5364C>G MANE Select	ENSP00000262367.5:p.Ala1788=
ENST00000262367.9:c.5364C>G	ENSP00000262367.5:p.Ala1788=
ENST00000382070.7:c.5250C>G	ENSP00000371502.3:p.Ala1750=
NM_001079846.1:c.5250C>G	NP_001073315.1:p.Ala1750=
NM_004380.2:c.5364C>G	NP_004371.2:p.Ala1788=
XM_005255124.3:c.5319C>G	XP_005255181.1:p.Ala1773=
XM_005255125.3:c.4947C>G	XP_005255182.1:p.Ala1649=
XM_006720848.2:c.5103C>G	XP_006720911.1:p.Ala1701=
XM_011522380.1:c.5310C>G	XP_011520682.1:p.Ala1770=
XM_011522381.1:c.4611C>G	XP_011520683.1:p.Ala1537=
XM_005255124.4:c.5319C>G	XP_005255181.1:p.Ala1773=
XM_005255125.4:c.4947C>G	XP_005255182.1:p.Ala1649=
XM_006720848.3:c.5103C>G	XP_006720911.1:p.Ala1701=
XM_011522381.2:c.4611C>G	XP_011520683.1:p.Ala1537=
XM_017022944.1:c.5358C>G	XP_016878433.1:p.Ala1786=
NM_004380.3:c.5364C>G MANE Select	NP_004371.2:p.Ala1788=