Canonical Allele Identifier: CA394556172

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5503G>A MANE Select	ENSP00000262367.5:p.Glu1835Lys
ENST00000262367.9:c.5503G>A	ENSP00000262367.5:p.Glu1835Lys
ENST00000382070.7:c.5389G>A	ENSP00000371502.3:p.Glu1797Lys
NM_001079846.1:c.5389G>A	NP_001073315.1:p.Glu1797Lys
NM_004380.2:c.5503G>A	NP_004371.2:p.Glu1835Lys
XM_005255124.3:c.5458G>A	XP_005255181.1:p.Glu1820Lys
XM_005255125.3:c.5086G>A	XP_005255182.1:p.Glu1696Lys
XM_006720848.2:c.5242G>A	XP_006720911.1:p.Glu1748Lys
XM_011522380.1:c.5449G>A	XP_011520682.1:p.Glu1817Lys
XM_011522381.1:c.4750G>A	XP_011520683.1:p.Glu1584Lys
XM_005255124.4:c.5458G>A	XP_005255181.1:p.Glu1820Lys
XM_005255125.4:c.5086G>A	XP_005255182.1:p.Glu1696Lys
XM_006720848.3:c.5242G>A	XP_006720911.1:p.Glu1748Lys
XM_011522381.2:c.4750G>A	XP_011520683.1:p.Glu1584Lys
XM_017022944.1:c.5497G>A	XP_016878433.1:p.Glu1833Lys
NM_004380.3:c.5503G>A MANE Select	NP_004371.2:p.Glu1835Lys