Canonical Allele Identifier: CA493394215

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779054C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729053C>G , CM000678.2:g.3729053C>G	GRCh38
NC_000016.9:g.3779054C>G , CM000678.1:g.3779054C>G	GRCh37
NC_000016.8:g.3719055C>G	NCBI36
NG_009873.1:g.156068G>C
NG_009873.2:g.156661G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5994G>C MANE Select	ENSP00000262367.5:p.Val1998=
ENST00000262367.9:c.5994G>C	ENSP00000262367.5:p.Val1998=
ENST00000382070.7:c.5880G>C	ENSP00000371502.3:p.Val1960=
NM_001079846.1:c.5880G>C	NP_001073315.1:p.Val1960=
NM_004380.2:c.5994G>C	NP_004371.2:p.Val1998=
XM_005255124.3:c.5949G>C	XP_005255181.1:p.Val1983=
XM_005255125.3:c.5577G>C	XP_005255182.1:p.Val1859=
XM_006720848.2:c.5733G>C	XP_006720911.1:p.Val1911=
XM_011522380.1:c.5940G>C	XP_011520682.1:p.Val1980=
XM_011522381.1:c.5241G>C	XP_011520683.1:p.Val1747=
XM_005255124.4:c.5949G>C	XP_005255181.1:p.Val1983=
XM_005255125.4:c.5577G>C	XP_005255182.1:p.Val1859=
XM_006720848.3:c.5733G>C	XP_006720911.1:p.Val1911=
XM_011522381.2:c.5241G>C	XP_011520683.1:p.Val1747=
XM_017022944.1:c.5988G>C	XP_016878433.1:p.Val1996=
NM_004380.3:c.5994G>C MANE Select	NP_004371.2:p.Val1998=