Canonical Allele Identifier: CA493394114

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779528C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729527C>G , CM000678.2:g.3729527C>G	GRCh38
NC_000016.9:g.3779528C>G , CM000678.1:g.3779528C>G	GRCh37
NC_000016.8:g.3719529C>G	NCBI36
NG_009873.1:g.155594G>C
NG_009873.2:g.156187G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5520G>C MANE Select	ENSP00000262367.5:p.Val1840=
ENST00000262367.9:c.5520G>C	ENSP00000262367.5:p.Val1840=
ENST00000382070.7:c.5406G>C	ENSP00000371502.3:p.Val1802=
NM_001079846.1:c.5406G>C	NP_001073315.1:p.Val1802=
NM_004380.2:c.5520G>C	NP_004371.2:p.Val1840=
XM_005255124.3:c.5475G>C	XP_005255181.1:p.Val1825=
XM_005255125.3:c.5103G>C	XP_005255182.1:p.Val1701=
XM_006720848.2:c.5259G>C	XP_006720911.1:p.Val1753=
XM_011522380.1:c.5466G>C	XP_011520682.1:p.Val1822=
XM_011522381.1:c.4767G>C	XP_011520683.1:p.Val1589=
XM_005255124.4:c.5475G>C	XP_005255181.1:p.Val1825=
XM_005255125.4:c.5103G>C	XP_005255182.1:p.Val1701=
XM_006720848.3:c.5259G>C	XP_006720911.1:p.Val1753=
XM_011522381.2:c.4767G>C	XP_011520683.1:p.Val1589=
XM_017022944.1:c.5514G>C	XP_016878433.1:p.Val1838=
NM_004380.3:c.5520G>C MANE Select	NP_004371.2:p.Val1840=