Canonical Allele Identifier: CA394563883

Gene: CREBBP

Linked Data

• dbSNP Id: rs749161149
• MyVariant Identifiers: chr16:g.3786759G>C (hg19) ; chr16:g.3736758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736758G>C , CM000678.2:g.3736758G>C	GRCh38
NC_000016.9:g.3786759G>C , CM000678.1:g.3786759G>C	GRCh37
NC_000016.8:g.3726760G>C	NCBI36
NG_009873.1:g.148363C>G
NG_009873.2:g.148956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4452C>G MANE Select	ENSP00000262367.5:p.Phe1484Leu
ENST00000262367.9:c.4452C>G	ENSP00000262367.5:p.Phe1484Leu
ENST00000382070.7:c.4338C>G	ENSP00000371502.3:p.Phe1446Leu
ENST00000570939.2:c.3087C>G	ENSP00000461002.2:p.Phe1029Leu
ENST00000571763.5:n.242C>G
ENST00000574740.1:n.273C>G
ENST00000576720.1:n.3275C>G
NM_001079846.1:c.4338C>G	NP_001073315.1:p.Phe1446Leu
NM_004380.2:c.4452C>G	NP_004371.2:p.Phe1484Leu
XM_005255124.3:c.4407C>G	XP_005255181.1:p.Phe1469Leu
XM_005255125.3:c.4035C>G	XP_005255182.1:p.Phe1345Leu
XM_006720848.2:c.4191C>G	XP_006720911.1:p.Phe1397Leu
XM_011522380.1:c.4398C>G	XP_011520682.1:p.Phe1466Leu
XM_011522381.1:c.3699C>G	XP_011520683.1:p.Phe1233Leu
XM_005255124.4:c.4407C>G	XP_005255181.1:p.Phe1469Leu
XM_005255125.4:c.4035C>G	XP_005255182.1:p.Phe1345Leu
XM_006720848.3:c.4191C>G	XP_006720911.1:p.Phe1397Leu
XM_011522381.2:c.3699C>G	XP_011520683.1:p.Phe1233Leu
XM_017022944.1:c.4446C>G	XP_016878433.1:p.Phe1482Leu
NM_004380.3:c.4452C>G MANE Select	NP_004371.2:p.Phe1484Leu