Canonical Allele Identifier: CA493279439

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786747T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736746T>G , CM000678.2:g.3736746T>G	GRCh38
NC_000016.9:g.3786747T>G , CM000678.1:g.3786747T>G	GRCh37
NC_000016.8:g.3726748T>G	NCBI36
NG_009873.1:g.148375A>C
NG_009873.2:g.148968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4464A>C MANE Select	ENSP00000262367.5:p.Pro1488=
ENST00000262367.9:c.4464A>C	ENSP00000262367.5:p.Pro1488=
ENST00000382070.7:c.4350A>C	ENSP00000371502.3:p.Pro1450=
ENST00000570939.2:c.3099A>C	ENSP00000461002.2:p.Pro1033=
ENST00000571763.5:n.254A>C
ENST00000574740.1:n.285A>C
ENST00000576720.1:n.3287A>C
NM_001079846.1:c.4350A>C	NP_001073315.1:p.Pro1450=
NM_004380.2:c.4464A>C	NP_004371.2:p.Pro1488=
XM_005255124.3:c.4419A>C	XP_005255181.1:p.Pro1473=
XM_005255125.3:c.4047A>C	XP_005255182.1:p.Pro1349=
XM_006720848.2:c.4203A>C	XP_006720911.1:p.Pro1401=
XM_011522380.1:c.4410A>C	XP_011520682.1:p.Pro1470=
XM_011522381.1:c.3711A>C	XP_011520683.1:p.Pro1237=
XM_005255124.4:c.4419A>C	XP_005255181.1:p.Pro1473=
XM_005255125.4:c.4047A>C	XP_005255182.1:p.Pro1349=
XM_006720848.3:c.4203A>C	XP_006720911.1:p.Pro1401=
XM_011522381.2:c.3711A>C	XP_011520683.1:p.Pro1237=
XM_017022944.1:c.4458A>C	XP_016878433.1:p.Pro1486=
NM_004380.3:c.4464A>C MANE Select	NP_004371.2:p.Pro1488=