Canonical Allele Identifier: CA394555986

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1016273
• ClinVar RCV Id: RCV001315253
• dbSNP Id: rs770325046
• MyVariant Identifiers: chr16:g.3779475C>G (hg19) ; chr16:g.3729474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729474C>G , CM000678.2:g.3729474C>G	GRCh38
NC_000016.9:g.3779475C>G , CM000678.1:g.3779475C>G	GRCh37
NC_000016.8:g.3719476C>G	NCBI36
NG_009873.1:g.155647G>C
NG_009873.2:g.156240G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5573G>C MANE Select	ENSP00000262367.5:p.Arg1858Pro
ENST00000262367.9:c.5573G>C	ENSP00000262367.5:p.Arg1858Pro
ENST00000382070.7:c.5459G>C	ENSP00000371502.3:p.Arg1820Pro
NM_001079846.1:c.5459G>C	NP_001073315.1:p.Arg1820Pro
NM_004380.2:c.5573G>C	NP_004371.2:p.Arg1858Pro
XM_005255124.3:c.5528G>C	XP_005255181.1:p.Arg1843Pro
XM_005255125.3:c.5156G>C	XP_005255182.1:p.Arg1719Pro
XM_006720848.2:c.5312G>C	XP_006720911.1:p.Arg1771Pro
XM_011522380.1:c.5519G>C	XP_011520682.1:p.Arg1840Pro
XM_011522381.1:c.4820G>C	XP_011520683.1:p.Arg1607Pro
XM_005255124.4:c.5528G>C	XP_005255181.1:p.Arg1843Pro
XM_005255125.4:c.5156G>C	XP_005255182.1:p.Arg1719Pro
XM_006720848.3:c.5312G>C	XP_006720911.1:p.Arg1771Pro
XM_011522381.2:c.4820G>C	XP_011520683.1:p.Arg1607Pro
XM_017022944.1:c.5567G>C	XP_016878433.1:p.Arg1856Pro
NM_004380.3:c.5573G>C MANE Select	NP_004371.2:p.Arg1858Pro