Canonical Allele Identifier: CA394564311

Gene: CREBBP

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4376A>C MANE Select	ENSP00000262367.5:p.Glu1459Ala
ENST00000262367.9:c.4376A>C	ENSP00000262367.5:p.Glu1459Ala
ENST00000382070.7:c.4262A>C	ENSP00000371502.3:p.Glu1421Ala
ENST00000570939.2:c.3011A>C	ENSP00000461002.2:p.Glu1004Ala
ENST00000574740.1:n.216-1762A>C
ENST00000576720.1:n.3217+1001A>C
NM_001079846.1:c.4262A>C	NP_001073315.1:p.Glu1421Ala
NM_004380.2:c.4376A>C	NP_004371.2:p.Glu1459Ala
XM_005255124.3:c.4331A>C	XP_005255181.1:p.Glu1444Ala
XM_005255125.3:c.3959A>C	XP_005255182.1:p.Glu1320Ala
XM_006720848.2:c.4134-1762A>C	XP_006720911.1:n.4134-1762A>C
XM_011522380.1:c.4322A>C	XP_011520682.1:p.Glu1441Ala
XM_011522381.1:c.3623A>C	XP_011520683.1:p.Glu1208Ala
XM_005255124.4:c.4331A>C	XP_005255181.1:p.Glu1444Ala
XM_005255125.4:c.3959A>C	XP_005255182.1:p.Glu1320Ala
XM_006720848.3:c.4134-1762A>C	XP_006720911.1:n.4134-1762A>C
XM_011522381.2:c.3623A>C	XP_011520683.1:p.Glu1208Ala
XM_017022944.1:c.4370A>C	XP_016878433.1:p.Glu1457Ala
NM_004380.3:c.4376A>C MANE Select	NP_004371.2:p.Glu1459Ala