Canonical Allele Identifier: CA394557994

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731194C>T , CM000678.2:g.3731194C>T	GRCh38
NC_000016.9:g.3781195C>T , CM000678.1:g.3781195C>T	GRCh37
NC_000016.8:g.3721196C>T	NCBI36
NG_009873.1:g.153927G>A
NG_009873.2:g.154520G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5170G>A MANE Select	NP_004371.2:p.Glu1724Lys
ENST00000262367.10:c.5170G>A MANE Select	ENSP00000262367.5:p.Glu1724Lys
NM_001079846.1:c.5056G>A	NP_001073315.1:p.Glu1686Lys
NM_004380.2:c.5170G>A	NP_004371.2:p.Glu1724Lys
ENST00000262367.9:c.5170G>A	ENSP00000262367.5:p.Glu1724Lys
ENST00000382070.7:c.5056G>A	ENSP00000371502.3:p.Glu1686Lys
ENST00000637492.1:c.57G>A
XM_005255124.3:c.5125G>A	XP_005255181.1:p.Glu1709Lys
XM_005255124.4:c.5125G>A	XP_005255181.1:p.Glu1709Lys
XM_005255125.3:c.4753G>A	XP_005255182.1:p.Glu1585Lys
XM_005255125.4:c.4753G>A	XP_005255182.1:p.Glu1585Lys
XM_006720848.2:c.4909G>A	XP_006720911.1:p.Glu1637Lys
XM_006720848.3:c.4909G>A	XP_006720911.1:p.Glu1637Lys
XM_011522380.1:c.5116G>A	XP_011520682.1:p.Glu1706Lys
XM_011522381.1:c.4417G>A	XP_011520683.1:p.Glu1473Lys
XM_011522381.2:c.4417G>A	XP_011520683.1:p.Glu1473Lys
XM_017022944.1:c.5164G>A	XP_016878433.1:p.Glu1722Lys