Canonical Allele Identifier: CA394564268

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738559C>T , CM000678.2:g.3738559C>T	GRCh38
NC_000016.9:g.3788560C>T , CM000678.1:g.3788560C>T	GRCh37
NC_000016.8:g.3728561C>T	NCBI36
NG_009873.1:g.146562G>A
NG_009873.2:g.147155G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4394G>A MANE Select	NP_004371.2:p.Gly1465Glu
ENST00000262367.10:c.4394G>A MANE Select	ENSP00000262367.5:p.Gly1465Glu
NM_001079846.1:c.4280G>A	NP_001073315.1:p.Gly1427Glu
NM_004380.2:c.4394G>A	NP_004371.2:p.Gly1465Glu
ENST00000262367.9:c.4394G>A	ENSP00000262367.5:p.Gly1465Glu
ENST00000382070.7:c.4280G>A	ENSP00000371502.3:p.Gly1427Glu
ENST00000570939.2:c.3029G>A	ENSP00000461002.2:p.Gly1010Glu
ENST00000574740.1:n.216-1744G>A
ENST00000576720.1:n.3217+1019G>A
XM_005255124.3:c.4349G>A	XP_005255181.1:p.Gly1450Glu
XM_005255124.4:c.4349G>A	XP_005255181.1:p.Gly1450Glu
XM_005255125.3:c.3977G>A	XP_005255182.1:p.Gly1326Glu
XM_005255125.4:c.3977G>A	XP_005255182.1:p.Gly1326Glu
XM_006720848.2:c.4134-1744G>A	XP_006720911.1:n.4134-1744G>A
XM_006720848.3:c.4134-1744G>A	XP_006720911.1:n.4134-1744G>A
XM_011522380.1:c.4340G>A	XP_011520682.1:p.Gly1447Glu
XM_011522381.1:c.3641G>A	XP_011520683.1:p.Gly1214Glu
XM_011522381.2:c.3641G>A	XP_011520683.1:p.Gly1214Glu
XM_017022944.1:c.4388G>A	XP_016878433.1:p.Gly1463Glu