Canonical Allele Identifier: CA493280131

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151337363
• MyVariant Identifiers: chr16:g.3789683T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739682T>A , CM000678.2:g.3739682T>A	GRCh38
NC_000016.9:g.3789683T>A , CM000678.1:g.3789683T>A	GRCh37
NC_000016.8:g.3729684T>A	NCBI36
NG_009873.1:g.145439A>T
NG_009873.2:g.146032A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4176A>T MANE Select	ENSP00000262367.5:p.Arg1392=
ENST00000262367.9:c.4176A>T	ENSP00000262367.5:p.Arg1392=
ENST00000382070.7:c.4062A>T	ENSP00000371502.3:p.Arg1354=
ENST00000570939.2:c.2811A>T	ENSP00000461002.2:p.Arg937=
ENST00000573517.6:c.482A>T
ENST00000574740.1:n.215+717A>T
ENST00000576720.1:n.3113A>T
NM_001079846.1:c.4062A>T	NP_001073315.1:p.Arg1354=
NM_004380.2:c.4176A>T	NP_004371.2:p.Arg1392=
XM_005255124.3:c.4131A>T	XP_005255181.1:p.Arg1377=
XM_005255125.3:c.3759A>T	XP_005255182.1:p.Arg1253=
XM_006720848.2:c.4133+717A>T	XP_006720911.1:n.4133+717A>T
XM_011522380.1:c.4122A>T	XP_011520682.1:p.Arg1374=
XM_011522381.1:c.3423A>T	XP_011520683.1:p.Arg1141=
XM_005255124.4:c.4131A>T	XP_005255181.1:p.Arg1377=
XM_005255125.4:c.3759A>T	XP_005255182.1:p.Arg1253=
XM_006720848.3:c.4133+717A>T	XP_006720911.1:n.4133+717A>T
XM_011522381.2:c.3423A>T	XP_011520683.1:p.Arg1141=
XM_017022944.1:c.4170A>T	XP_016878433.1:p.Arg1390=
NM_004380.3:c.4176A>T MANE Select	NP_004371.2:p.Arg1392=