Canonical Allele Identifier: CA394563426

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329266
• MyVariant Identifiers: chr16:g.3786680A>T (hg19) ; chr16:g.3736679A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736679A>T , CM000678.2:g.3736679A>T	GRCh38
NC_000016.9:g.3786680A>T , CM000678.1:g.3786680A>T	GRCh37
NC_000016.8:g.3726681A>T	NCBI36
NG_009873.1:g.148442T>A
NG_009873.2:g.149035T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4531T>A MANE Select	ENSP00000262367.5:p.Phe1511Ile
ENST00000262367.9:c.4531T>A	ENSP00000262367.5:p.Phe1511Ile
ENST00000382070.7:c.4417T>A	ENSP00000371502.3:p.Phe1473Ile
ENST00000570939.2:c.3166T>A	ENSP00000461002.2:p.Phe1056Ile
ENST00000571763.5:n.321T>A
ENST00000574740.1:n.352T>A
ENST00000576720.1:n.3354T>A
NM_001079846.1:c.4417T>A	NP_001073315.1:p.Phe1473Ile
NM_004380.2:c.4531T>A	NP_004371.2:p.Phe1511Ile
XM_005255124.3:c.4486T>A	XP_005255181.1:p.Phe1496Ile
XM_005255125.3:c.4114T>A	XP_005255182.1:p.Phe1372Ile
XM_006720848.2:c.4270T>A	XP_006720911.1:p.Phe1424Ile
XM_011522380.1:c.4477T>A	XP_011520682.1:p.Phe1493Ile
XM_011522381.1:c.3778T>A	XP_011520683.1:p.Phe1260Ile
XM_005255124.4:c.4486T>A	XP_005255181.1:p.Phe1496Ile
XM_005255125.4:c.4114T>A	XP_005255182.1:p.Phe1372Ile
XM_006720848.3:c.4270T>A	XP_006720911.1:p.Phe1424Ile
XM_011522381.2:c.3778T>A	XP_011520683.1:p.Phe1260Ile
XM_017022944.1:c.4525T>A	XP_016878433.1:p.Phe1509Ile
NM_004380.3:c.4531T>A MANE Select	NP_004371.2:p.Phe1511Ile