Canonical Allele Identifier: CA394563436

Gene: CREBBP

Linked Data

• dbSNP Id: rs780939128
• MyVariant Identifiers: chr16:g.3786682G>T (hg19) ; chr16:g.3736681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736681G>T , CM000678.2:g.3736681G>T	GRCh38
NC_000016.9:g.3786682G>T , CM000678.1:g.3786682G>T	GRCh37
NC_000016.8:g.3726683G>T	NCBI36
NG_009873.1:g.148440C>A
NG_009873.2:g.149033C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4529C>A MANE Select	ENSP00000262367.5:p.Ala1510Glu
ENST00000262367.9:c.4529C>A	ENSP00000262367.5:p.Ala1510Glu
ENST00000382070.7:c.4415C>A	ENSP00000371502.3:p.Ala1472Glu
ENST00000570939.2:c.3164C>A	ENSP00000461002.2:p.Ala1055Glu
ENST00000571763.5:n.319C>A
ENST00000574740.1:n.350C>A
ENST00000576720.1:n.3352C>A
NM_001079846.1:c.4415C>A	NP_001073315.1:p.Ala1472Glu
NM_004380.2:c.4529C>A	NP_004371.2:p.Ala1510Glu
XM_005255124.3:c.4484C>A	XP_005255181.1:p.Ala1495Glu
XM_005255125.3:c.4112C>A	XP_005255182.1:p.Ala1371Glu
XM_006720848.2:c.4268C>A	XP_006720911.1:p.Ala1423Glu
XM_011522380.1:c.4475C>A	XP_011520682.1:p.Ala1492Glu
XM_011522381.1:c.3776C>A	XP_011520683.1:p.Ala1259Glu
XM_005255124.4:c.4484C>A	XP_005255181.1:p.Ala1495Glu
XM_005255125.4:c.4112C>A	XP_005255182.1:p.Ala1371Glu
XM_006720848.3:c.4268C>A	XP_006720911.1:p.Ala1423Glu
XM_011522381.2:c.3776C>A	XP_011520683.1:p.Ala1259Glu
XM_017022944.1:c.4523C>A	XP_016878433.1:p.Ala1508Glu
NM_004380.3:c.4529C>A MANE Select	NP_004371.2:p.Ala1510Glu