Canonical Allele Identifier: CA394556171

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310326
• MyVariant Identifiers: chr16:g.3779545C>G (hg19) ; chr16:g.3729544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729544C>G , CM000678.2:g.3729544C>G	GRCh38
NC_000016.9:g.3779545C>G , CM000678.1:g.3779545C>G	GRCh37
NC_000016.8:g.3719546C>G	NCBI36
NG_009873.1:g.155577G>C
NG_009873.2:g.156170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5503G>C MANE Select	ENSP00000262367.5:p.Glu1835Gln
ENST00000262367.9:c.5503G>C	ENSP00000262367.5:p.Glu1835Gln
ENST00000382070.7:c.5389G>C	ENSP00000371502.3:p.Glu1797Gln
NM_001079846.1:c.5389G>C	NP_001073315.1:p.Glu1797Gln
NM_004380.2:c.5503G>C	NP_004371.2:p.Glu1835Gln
XM_005255124.3:c.5458G>C	XP_005255181.1:p.Glu1820Gln
XM_005255125.3:c.5086G>C	XP_005255182.1:p.Glu1696Gln
XM_006720848.2:c.5242G>C	XP_006720911.1:p.Glu1748Gln
XM_011522380.1:c.5449G>C	XP_011520682.1:p.Glu1817Gln
XM_011522381.1:c.4750G>C	XP_011520683.1:p.Glu1584Gln
XM_005255124.4:c.5458G>C	XP_005255181.1:p.Glu1820Gln
XM_005255125.4:c.5086G>C	XP_005255182.1:p.Glu1696Gln
XM_006720848.3:c.5242G>C	XP_006720911.1:p.Glu1748Gln
XM_011522381.2:c.4750G>C	XP_011520683.1:p.Glu1584Gln
XM_017022944.1:c.5497G>C	XP_016878433.1:p.Glu1833Gln
NM_004380.3:c.5503G>C MANE Select	NP_004371.2:p.Glu1835Gln