Canonical Allele Identifier: CA394555991

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779477G>T (hg19) ; chr16:g.3729476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729476G>T , CM000678.2:g.3729476G>T	GRCh38
NC_000016.9:g.3779477G>T , CM000678.1:g.3779477G>T	GRCh37
NC_000016.8:g.3719478G>T	NCBI36
NG_009873.1:g.155645C>A
NG_009873.2:g.156238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5571C>A MANE Select	ENSP00000262367.5:p.His1857Gln
ENST00000262367.9:c.5571C>A	ENSP00000262367.5:p.His1857Gln
ENST00000382070.7:c.5457C>A	ENSP00000371502.3:p.His1819Gln
NM_001079846.1:c.5457C>A	NP_001073315.1:p.His1819Gln
NM_004380.2:c.5571C>A	NP_004371.2:p.His1857Gln
XM_005255124.3:c.5526C>A	XP_005255181.1:p.His1842Gln
XM_005255125.3:c.5154C>A	XP_005255182.1:p.His1718Gln
XM_006720848.2:c.5310C>A	XP_006720911.1:p.His1770Gln
XM_011522380.1:c.5517C>A	XP_011520682.1:p.His1839Gln
XM_011522381.1:c.4818C>A	XP_011520683.1:p.His1606Gln
XM_005255124.4:c.5526C>A	XP_005255181.1:p.His1842Gln
XM_005255125.4:c.5154C>A	XP_005255182.1:p.His1718Gln
XM_006720848.3:c.5310C>A	XP_006720911.1:p.His1770Gln
XM_011522381.2:c.4818C>A	XP_011520683.1:p.His1606Gln
XM_017022944.1:c.5565C>A	XP_016878433.1:p.His1855Gln
NM_004380.3:c.5571C>A MANE Select	NP_004371.2:p.His1857Gln