Canonical Allele Identifier: CA394556001

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779481T>C (hg19) ; chr16:g.3729480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729480T>C , CM000678.2:g.3729480T>C	GRCh38
NC_000016.9:g.3779481T>C , CM000678.1:g.3779481T>C	GRCh37
NC_000016.8:g.3719482T>C	NCBI36
NG_009873.1:g.155641A>G
NG_009873.2:g.156234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5567A>G MANE Select	ENSP00000262367.5:p.Gln1856Arg
ENST00000262367.9:c.5567A>G	ENSP00000262367.5:p.Gln1856Arg
ENST00000382070.7:c.5453A>G	ENSP00000371502.3:p.Gln1818Arg
NM_001079846.1:c.5453A>G	NP_001073315.1:p.Gln1818Arg
NM_004380.2:c.5567A>G	NP_004371.2:p.Gln1856Arg
XM_005255124.3:c.5522A>G	XP_005255181.1:p.Gln1841Arg
XM_005255125.3:c.5150A>G	XP_005255182.1:p.Gln1717Arg
XM_006720848.2:c.5306A>G	XP_006720911.1:p.Gln1769Arg
XM_011522380.1:c.5513A>G	XP_011520682.1:p.Gln1838Arg
XM_011522381.1:c.4814A>G	XP_011520683.1:p.Gln1605Arg
XM_005255124.4:c.5522A>G	XP_005255181.1:p.Gln1841Arg
XM_005255125.4:c.5150A>G	XP_005255182.1:p.Gln1717Arg
XM_006720848.3:c.5306A>G	XP_006720911.1:p.Gln1769Arg
XM_011522381.2:c.4814A>G	XP_011520683.1:p.Gln1605Arg
XM_017022944.1:c.5561A>G	XP_016878433.1:p.Gln1854Arg
NM_004380.3:c.5567A>G MANE Select	NP_004371.2:p.Gln1856Arg