Canonical Allele Identifier: CA394565389

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740487G>T , CM000678.2:g.3740487G>T	GRCh38
NC_000016.9:g.3790488G>T , CM000678.1:g.3790488G>T	GRCh37
NC_000016.8:g.3730489G>T	NCBI36
NG_009873.1:g.144634C>A
NG_009873.2:g.145227C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4045C>A MANE Select	ENSP00000262367.5:p.Gln1349Lys
ENST00000262367.9:c.4045C>A	ENSP00000262367.5:p.Gln1349Lys
ENST00000382070.7:c.3931C>A	ENSP00000371502.3:p.Gln1311Lys
ENST00000570939.2:c.2680C>A	ENSP00000461002.2:p.Gln894Lys
ENST00000572569.1:n.509C>A
ENST00000573517.6:c.351C>A
ENST00000574740.1:n.127C>A
ENST00000576720.1:n.2982C>A
NM_001079846.1:c.3931C>A	NP_001073315.1:p.Gln1311Lys
NM_004380.2:c.4045C>A	NP_004371.2:p.Gln1349Lys
XM_005255124.3:c.4000C>A	XP_005255181.1:p.Gln1334Lys
XM_005255125.3:c.3628C>A	XP_005255182.1:p.Gln1210Lys
XM_006720848.2:c.4045C>A	XP_006720911.1:p.Gln1349Lys
XM_011522380.1:c.3991C>A	XP_011520682.1:p.Gln1331Lys
XM_011522381.1:c.3292C>A	XP_011520683.1:p.Gln1098Lys
XM_005255124.4:c.4000C>A	XP_005255181.1:p.Gln1334Lys
XM_005255125.4:c.3628C>A	XP_005255182.1:p.Gln1210Lys
XM_006720848.3:c.4045C>A	XP_006720911.1:p.Gln1349Lys
XM_011522381.2:c.3292C>A	XP_011520683.1:p.Gln1098Lys
XM_017022944.1:c.4039C>A	XP_016878433.1:p.Gln1347Lys
NM_004380.3:c.4045C>A MANE Select	NP_004371.2:p.Gln1349Lys