Canonical Allele Identifier: CA493280071

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3789580T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739579T>G , CM000678.2:g.3739579T>G	GRCh38
NC_000016.9:g.3789580T>G , CM000678.1:g.3789580T>G	GRCh37
NC_000016.8:g.3729581T>G	NCBI36
NG_009873.1:g.145542A>C
NG_009873.2:g.146135A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4279A>C MANE Select	ENSP00000262367.5:p.Arg1427=
ENST00000262367.9:c.4279A>C	ENSP00000262367.5:p.Arg1427=
ENST00000382070.7:c.4165A>C	ENSP00000371502.3:p.Arg1389=
ENST00000570939.2:c.2914A>C	ENSP00000461002.2:p.Arg972=
ENST00000573517.6:c.585A>C
ENST00000574740.1:n.215+820A>C
ENST00000576720.1:n.3216A>C
NM_001079846.1:c.4165A>C	NP_001073315.1:p.Arg1389=
NM_004380.2:c.4279A>C	NP_004371.2:p.Arg1427=
XM_005255124.3:c.4234A>C	XP_005255181.1:p.Arg1412=
XM_005255125.3:c.3862A>C	XP_005255182.1:p.Arg1288=
XM_006720848.2:c.4133+820A>C	XP_006720911.1:n.4133+820A>C
XM_011522380.1:c.4225A>C	XP_011520682.1:p.Arg1409=
XM_011522381.1:c.3526A>C	XP_011520683.1:p.Arg1176=
XM_005255124.4:c.4234A>C	XP_005255181.1:p.Arg1412=
XM_005255125.4:c.3862A>C	XP_005255182.1:p.Arg1288=
XM_006720848.3:c.4133+820A>C	XP_006720911.1:n.4133+820A>C
XM_011522381.2:c.3526A>C	XP_011520683.1:p.Arg1176=
XM_017022944.1:c.4273A>C	XP_016878433.1:p.Arg1425=
NM_004380.3:c.4279A>C MANE Select	NP_004371.2:p.Arg1427=