Canonical Allele Identifier: CA394556115

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779522G>C (hg19) ; chr16:g.3729521G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729521G>C , CM000678.2:g.3729521G>C	GRCh38
NC_000016.9:g.3779522G>C , CM000678.1:g.3779522G>C	GRCh37
NC_000016.8:g.3719523G>C	NCBI36
NG_009873.1:g.155600C>G
NG_009873.2:g.156193C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5526C>G MANE Select	ENSP00000262367.5:p.Phe1842Leu
ENST00000262367.9:c.5526C>G	ENSP00000262367.5:p.Phe1842Leu
ENST00000382070.7:c.5412C>G	ENSP00000371502.3:p.Phe1804Leu
NM_001079846.1:c.5412C>G	NP_001073315.1:p.Phe1804Leu
NM_004380.2:c.5526C>G	NP_004371.2:p.Phe1842Leu
XM_005255124.3:c.5481C>G	XP_005255181.1:p.Phe1827Leu
XM_005255125.3:c.5109C>G	XP_005255182.1:p.Phe1703Leu
XM_006720848.2:c.5265C>G	XP_006720911.1:p.Phe1755Leu
XM_011522380.1:c.5472C>G	XP_011520682.1:p.Phe1824Leu
XM_011522381.1:c.4773C>G	XP_011520683.1:p.Phe1591Leu
XM_005255124.4:c.5481C>G	XP_005255181.1:p.Phe1827Leu
XM_005255125.4:c.5109C>G	XP_005255182.1:p.Phe1703Leu
XM_006720848.3:c.5265C>G	XP_006720911.1:p.Phe1755Leu
XM_011522381.2:c.4773C>G	XP_011520683.1:p.Phe1591Leu
XM_017022944.1:c.5520C>G	XP_016878433.1:p.Phe1840Leu
NM_004380.3:c.5526C>G MANE Select	NP_004371.2:p.Phe1842Leu