Canonical Allele Identifier: CA276982550

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739713G>A , CM000678.2:g.3739713G>A	GRCh38
NC_000016.9:g.3789714G>A , CM000678.1:g.3789714G>A	GRCh37
NC_000016.8:g.3729715G>A	NCBI36
NG_009873.1:g.145408C>T
NG_009873.2:g.146001C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4145C>T MANE Select	NP_004371.2:p.Ser1382Phe
ENST00000262367.10:c.4145C>T MANE Select	ENSP00000262367.5:p.Ser1382Phe
NM_001079846.1:c.4031C>T	NP_001073315.1:p.Ser1344Phe
NM_004380.2:c.4145C>T	NP_004371.2:p.Ser1382Phe
ENST00000262367.9:c.4145C>T	ENSP00000262367.5:p.Ser1382Phe
ENST00000382070.7:c.4031C>T	ENSP00000371502.3:p.Ser1344Phe
ENST00000570939.2:c.2780C>T	ENSP00000461002.2:p.Ser927Phe
ENST00000573517.6:c.451C>T
ENST00000574740.1:n.215+686C>T
ENST00000576720.1:n.3082C>T
XM_005255124.3:c.4100C>T	XP_005255181.1:p.Ser1367Phe
XM_005255124.4:c.4100C>T	XP_005255181.1:p.Ser1367Phe
XM_005255125.3:c.3728C>T	XP_005255182.1:p.Ser1243Phe
XM_005255125.4:c.3728C>T	XP_005255182.1:p.Ser1243Phe
XM_006720848.2:c.4133+686C>T	XP_006720911.1:n.4133+686C>T
XM_006720848.3:c.4133+686C>T	XP_006720911.1:n.4133+686C>T
XM_011522380.1:c.4091C>T	XP_011520682.1:p.Ser1364Phe
XM_011522381.1:c.3392C>T	XP_011520683.1:p.Ser1131Phe
XM_011522381.2:c.3392C>T	XP_011520683.1:p.Ser1131Phe
XM_017022944.1:c.4139C>T	XP_016878433.1:p.Ser1380Phe