Canonical Allele Identifier: CA394551284

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770791G>C , CM000678.2:g.3770791G>C	GRCh38
NC_000016.9:g.3820792G>C , CM000678.1:g.3820792G>C	GRCh37
NC_000016.8:g.3760793G>C	NCBI36
NG_009873.1:g.114330C>G
NG_009873.2:g.114923C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2659C>G MANE Select	ENSP00000262367.5:p.Gln887Glu
ENST00000262367.9:c.2659C>G	ENSP00000262367.5:p.Gln887Glu
ENST00000382070.7:c.2545C>G	ENSP00000371502.3:p.Gln849Glu
ENST00000570939.2:c.1264C>G	ENSP00000461002.2:p.Gln422Glu
NM_001079846.1:c.2545C>G	NP_001073315.1:p.Gln849Glu
NM_004380.2:c.2659C>G	NP_004371.2:p.Gln887Glu
XM_005255124.3:c.2614C>G	XP_005255181.1:p.Gln872Glu
XM_005255125.3:c.2464-1438C>G	XP_005255182.1:n.2464-1438C>G
XM_006720848.2:c.2659C>G	XP_006720911.1:p.Gln887Glu
XM_011522380.1:c.2605C>G	XP_011520682.1:p.Gln869Glu
XM_011522381.1:c.1906C>G	XP_011520683.1:p.Gln636Glu
XM_011522382.1:c.2659C>G	XP_011520684.1:p.Gln887Glu
XM_005255124.4:c.2614C>G	XP_005255181.1:p.Gln872Glu
XM_005255125.4:c.2464-1438C>G	XP_005255182.1:n.2464-1438C>G
XM_006720848.3:c.2659C>G	XP_006720911.1:p.Gln887Glu
XM_011522381.2:c.1906C>G	XP_011520683.1:p.Gln636Glu
XM_011522382.3:c.2659C>G	XP_011520684.1:p.Gln887Glu
XM_017022944.1:c.2653C>G	XP_016878433.1:p.Gln885Glu
NM_004380.3:c.2659C>G MANE Select	NP_004371.2:p.Gln887Glu