Canonical Allele Identifier: CA394551285

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2659C>A MANE Select	ENSP00000262367.5:p.Gln887Lys
ENST00000262367.9:c.2659C>A	ENSP00000262367.5:p.Gln887Lys
ENST00000382070.7:c.2545C>A	ENSP00000371502.3:p.Gln849Lys
ENST00000570939.2:c.1264C>A	ENSP00000461002.2:p.Gln422Lys
NM_001079846.1:c.2545C>A	NP_001073315.1:p.Gln849Lys
NM_004380.2:c.2659C>A	NP_004371.2:p.Gln887Lys
XM_005255124.3:c.2614C>A	XP_005255181.1:p.Gln872Lys
XM_005255125.3:c.2464-1438C>A	XP_005255182.1:n.2464-1438C>A
XM_006720848.2:c.2659C>A	XP_006720911.1:p.Gln887Lys
XM_011522380.1:c.2605C>A	XP_011520682.1:p.Gln869Lys
XM_011522381.1:c.1906C>A	XP_011520683.1:p.Gln636Lys
XM_011522382.1:c.2659C>A	XP_011520684.1:p.Gln887Lys
XM_005255124.4:c.2614C>A	XP_005255181.1:p.Gln872Lys
XM_005255125.4:c.2464-1438C>A	XP_005255182.1:n.2464-1438C>A
XM_006720848.3:c.2659C>A	XP_006720911.1:p.Gln887Lys
XM_011522381.2:c.1906C>A	XP_011520683.1:p.Gln636Lys
XM_011522382.3:c.2659C>A	XP_011520684.1:p.Gln887Lys
XM_017022944.1:c.2653C>A	XP_016878433.1:p.Gln885Lys
NM_004380.3:c.2659C>A MANE Select	NP_004371.2:p.Gln887Lys