Canonical Allele Identifier: CA394553694

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778749A>C (hg19) ; chr16:g.3728748A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728748A>C , CM000678.2:g.3728748A>C	GRCh38
NC_000016.9:g.3778749A>C , CM000678.1:g.3778749A>C	GRCh37
NC_000016.8:g.3718750A>C	NCBI36
NG_009873.1:g.156373T>G
NG_009873.2:g.156966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6299T>G MANE Select	ENSP00000262367.5:p.Phe2100Cys
ENST00000262367.9:c.6299T>G	ENSP00000262367.5:p.Phe2100Cys
ENST00000382070.7:c.6185T>G	ENSP00000371502.3:p.Phe2062Cys
NM_001079846.1:c.6185T>G	NP_001073315.1:p.Phe2062Cys
NM_004380.2:c.6299T>G	NP_004371.2:p.Phe2100Cys
XM_005255124.3:c.6254T>G	XP_005255181.1:p.Phe2085Cys
XM_005255125.3:c.5882T>G	XP_005255182.1:p.Phe1961Cys
XM_006720848.2:c.6038T>G	XP_006720911.1:p.Phe2013Cys
XM_011522380.1:c.6245T>G	XP_011520682.1:p.Phe2082Cys
XM_011522381.1:c.5546T>G	XP_011520683.1:p.Phe1849Cys
XM_005255124.4:c.6254T>G	XP_005255181.1:p.Phe2085Cys
XM_005255125.4:c.5882T>G	XP_005255182.1:p.Phe1961Cys
XM_006720848.3:c.6038T>G	XP_006720911.1:p.Phe2013Cys
XM_011522381.2:c.5546T>G	XP_011520683.1:p.Phe1849Cys
XM_017022944.1:c.6293T>G	XP_016878433.1:p.Phe2098Cys
NM_004380.3:c.6299T>G MANE Select	NP_004371.2:p.Phe2100Cys