Canonical Allele Identifier: CA7869779

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757371C>T , CM000678.2:g.3757371C>T	GRCh38
NC_000016.9:g.3807372C>T , CM000678.1:g.3807372C>T	GRCh37
NC_000016.8:g.3747373C>T	NCBI36
NG_009873.1:g.127750G>A
NG_009873.2:g.128343G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3615G>A MANE Select	NP_004371.2:p.Glu1205=
ENST00000262367.10:c.3615G>A MANE Select	ENSP00000262367.5:p.Glu1205=
NM_001079846.1:c.3501G>A	NP_001073315.1:p.Glu1167=
NM_004380.2:c.3615G>A	NP_004371.2:p.Glu1205=
ENST00000262367.9:c.3615G>A	ENSP00000262367.5:p.Glu1205=
ENST00000382070.7:c.3501G>A	ENSP00000371502.3:p.Glu1167=
ENST00000570939.2:c.2220G>A	ENSP00000461002.2:p.Glu740=
XM_005255124.3:c.3570G>A	XP_005255181.1:p.Glu1190=
XM_005255124.4:c.3570G>A	XP_005255181.1:p.Glu1190=
XM_005255125.3:c.3198G>A	XP_005255182.1:p.Glu1066=
XM_005255125.4:c.3198G>A	XP_005255182.1:p.Glu1066=
XM_006720848.2:c.3615G>A	XP_006720911.1:p.Glu1205=
XM_006720848.3:c.3615G>A	XP_006720911.1:p.Glu1205=
XM_011522380.1:c.3561G>A	XP_011520682.1:p.Glu1187=
XM_011522381.1:c.2862G>A	XP_011520683.1:p.Glu954=
XM_011522381.2:c.2862G>A	XP_011520683.1:p.Glu954=
XM_011522382.1:c.3615G>A	XP_011520684.1:p.Glu1205=
XM_011522382.3:c.3615G>A	XP_011520684.1:p.Glu1205=
XM_017022944.1:c.3609G>A	XP_016878433.1:p.Glu1203=