Canonical Allele Identifier: CA493280099

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151336943
• MyVariant Identifiers: chr16:g.3789632A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739631A>G , CM000678.2:g.3739631A>G	GRCh38
NC_000016.9:g.3789632A>G , CM000678.1:g.3789632A>G	GRCh37
NC_000016.8:g.3729633A>G	NCBI36
NG_009873.1:g.145490T>C
NG_009873.2:g.146083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4227T>C MANE Select	ENSP00000262367.5:p.Phe1409=
ENST00000262367.9:c.4227T>C	ENSP00000262367.5:p.Phe1409=
ENST00000382070.7:c.4113T>C	ENSP00000371502.3:p.Phe1371=
ENST00000570939.2:c.2862T>C	ENSP00000461002.2:p.Phe954=
ENST00000573517.6:c.533T>C
ENST00000574740.1:n.215+768T>C
ENST00000576720.1:n.3164T>C
NM_001079846.1:c.4113T>C	NP_001073315.1:p.Phe1371=
NM_004380.2:c.4227T>C	NP_004371.2:p.Phe1409=
XM_005255124.3:c.4182T>C	XP_005255181.1:p.Phe1394=
XM_005255125.3:c.3810T>C	XP_005255182.1:p.Phe1270=
XM_006720848.2:c.4133+768T>C	XP_006720911.1:n.4133+768T>C
XM_011522380.1:c.4173T>C	XP_011520682.1:p.Phe1391=
XM_011522381.1:c.3474T>C	XP_011520683.1:p.Phe1158=
XM_005255124.4:c.4182T>C	XP_005255181.1:p.Phe1394=
XM_005255125.4:c.3810T>C	XP_005255182.1:p.Phe1270=
XM_006720848.3:c.4133+768T>C	XP_006720911.1:n.4133+768T>C
XM_011522381.2:c.3474T>C	XP_011520683.1:p.Phe1158=
XM_017022944.1:c.4221T>C	XP_016878433.1:p.Phe1407=
NM_004380.3:c.4227T>C MANE Select	NP_004371.2:p.Phe1409=