Canonical Allele Identifier: CA394563890

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786760A>T (hg19) ; chr16:g.3736759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736759A>T , CM000678.2:g.3736759A>T	GRCh38
NC_000016.9:g.3786760A>T , CM000678.1:g.3786760A>T	GRCh37
NC_000016.8:g.3726761A>T	NCBI36
NG_009873.1:g.148362T>A
NG_009873.2:g.148955T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4451T>A MANE Select	ENSP00000262367.5:p.Phe1484Tyr
ENST00000262367.9:c.4451T>A	ENSP00000262367.5:p.Phe1484Tyr
ENST00000382070.7:c.4337T>A	ENSP00000371502.3:p.Phe1446Tyr
ENST00000570939.2:c.3086T>A	ENSP00000461002.2:p.Phe1029Tyr
ENST00000571763.5:n.241T>A
ENST00000574740.1:n.272T>A
ENST00000576720.1:n.3274T>A
NM_001079846.1:c.4337T>A	NP_001073315.1:p.Phe1446Tyr
NM_004380.2:c.4451T>A	NP_004371.2:p.Phe1484Tyr
XM_005255124.3:c.4406T>A	XP_005255181.1:p.Phe1469Tyr
XM_005255125.3:c.4034T>A	XP_005255182.1:p.Phe1345Tyr
XM_006720848.2:c.4190T>A	XP_006720911.1:p.Phe1397Tyr
XM_011522380.1:c.4397T>A	XP_011520682.1:p.Phe1466Tyr
XM_011522381.1:c.3698T>A	XP_011520683.1:p.Phe1233Tyr
XM_005255124.4:c.4406T>A	XP_005255181.1:p.Phe1469Tyr
XM_005255125.4:c.4034T>A	XP_005255182.1:p.Phe1345Tyr
XM_006720848.3:c.4190T>A	XP_006720911.1:p.Phe1397Tyr
XM_011522381.2:c.3698T>A	XP_011520683.1:p.Phe1233Tyr
XM_017022944.1:c.4445T>A	XP_016878433.1:p.Phe1482Tyr
NM_004380.3:c.4451T>A MANE Select	NP_004371.2:p.Phe1484Tyr