Canonical Allele Identifier: CA271411

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738577T>C , CM000678.2:g.3738577T>C	GRCh38
NC_000016.9:g.3788578T>C , CM000678.1:g.3788578T>C	GRCh37
NC_000016.8:g.3728579T>C	NCBI36
NG_009873.1:g.146544A>G
NG_009873.2:g.147137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4376A>G MANE Select	ENSP00000262367.5:p.Glu1459Gly
ENST00000262367.9:c.4376A>G	ENSP00000262367.5:p.Glu1459Gly
ENST00000382070.7:c.4262A>G	ENSP00000371502.3:p.Glu1421Gly
ENST00000570939.2:c.3011A>G	ENSP00000461002.2:p.Glu1004Gly
ENST00000574740.1:n.216-1762A>G
ENST00000576720.1:n.3217+1001A>G
NM_001079846.1:c.4262A>G	NP_001073315.1:p.Glu1421Gly
NM_004380.2:c.4376A>G	NP_004371.2:p.Glu1459Gly
XM_005255124.3:c.4331A>G	XP_005255181.1:p.Glu1444Gly
XM_005255125.3:c.3959A>G	XP_005255182.1:p.Glu1320Gly
XM_006720848.2:c.4134-1762A>G	XP_006720911.1:n.4134-1762A>G
XM_011522380.1:c.4322A>G	XP_011520682.1:p.Glu1441Gly
XM_011522381.1:c.3623A>G	XP_011520683.1:p.Glu1208Gly
XM_005255124.4:c.4331A>G	XP_005255181.1:p.Glu1444Gly
XM_005255125.4:c.3959A>G	XP_005255182.1:p.Glu1320Gly
XM_006720848.3:c.4134-1762A>G	XP_006720911.1:n.4134-1762A>G
XM_011522381.2:c.3623A>G	XP_011520683.1:p.Glu1208Gly
XM_017022944.1:c.4370A>G	XP_016878433.1:p.Glu1457Gly
NM_004380.3:c.4376A>G MANE Select	NP_004371.2:p.Glu1459Gly