Canonical Allele Identifier: CA394557094

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729703C>T , CM000678.2:g.3729703C>T	GRCh38
NC_000016.9:g.3779704C>T , CM000678.1:g.3779704C>T	GRCh37
NC_000016.8:g.3719705C>T	NCBI36
NG_009873.1:g.155418G>A
NG_009873.2:g.156011G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5344G>A MANE Select	NP_004371.2:p.Ala1782Thr
ENST00000262367.10:c.5344G>A MANE Select	ENSP00000262367.5:p.Ala1782Thr
NM_001079846.1:c.5230G>A	NP_001073315.1:p.Ala1744Thr
NM_004380.2:c.5344G>A	NP_004371.2:p.Ala1782Thr
ENST00000262367.9:c.5344G>A	ENSP00000262367.5:p.Ala1782Thr
ENST00000382070.7:c.5230G>A	ENSP00000371502.3:p.Ala1744Thr
XM_005255124.3:c.5299G>A	XP_005255181.1:p.Ala1767Thr
XM_005255124.4:c.5299G>A	XP_005255181.1:p.Ala1767Thr
XM_005255125.3:c.4927G>A	XP_005255182.1:p.Ala1643Thr
XM_005255125.4:c.4927G>A	XP_005255182.1:p.Ala1643Thr
XM_006720848.2:c.5083G>A	XP_006720911.1:p.Ala1695Thr
XM_006720848.3:c.5083G>A	XP_006720911.1:p.Ala1695Thr
XM_011522380.1:c.5290G>A	XP_011520682.1:p.Ala1764Thr
XM_011522381.1:c.4591G>A	XP_011520683.1:p.Ala1531Thr
XM_011522381.2:c.4591G>A	XP_011520683.1:p.Ala1531Thr
XM_017022944.1:c.5338G>A	XP_016878433.1:p.Ala1780Thr