Canonical Allele Identifier: CA394551020

Gene: CREBBP

Linked Data

• dbSNP Id: rs968610522
• MyVariant Identifiers: chr16:g.3778081C>G (hg19) ; chr16:g.3728080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728080C>G , CM000678.2:g.3728080C>G	GRCh38
NC_000016.9:g.3778081C>G , CM000678.1:g.3778081C>G	GRCh37
NC_000016.8:g.3718082C>G	NCBI36
NG_009873.1:g.157041G>C
NG_009873.2:g.157634G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6967G>C MANE Select	ENSP00000262367.5:p.Gly2323Arg
ENST00000262367.9:c.6967G>C	ENSP00000262367.5:p.Gly2323Arg
ENST00000382070.7:c.6853G>C	ENSP00000371502.3:p.Gly2285Arg
NM_001079846.1:c.6853G>C	NP_001073315.1:p.Gly2285Arg
NM_004380.2:c.6967G>C	NP_004371.2:p.Gly2323Arg
XM_005255124.3:c.6922G>C	XP_005255181.1:p.Gly2308Arg
XM_005255125.3:c.6550G>C	XP_005255182.1:p.Gly2184Arg
XM_006720848.2:c.6706G>C	XP_006720911.1:p.Gly2236Arg
XM_011522380.1:c.6913G>C	XP_011520682.1:p.Gly2305Arg
XM_011522381.1:c.6214G>C	XP_011520683.1:p.Gly2072Arg
XM_005255124.4:c.6922G>C	XP_005255181.1:p.Gly2308Arg
XM_005255125.4:c.6550G>C	XP_005255182.1:p.Gly2184Arg
XM_006720848.3:c.6706G>C	XP_006720911.1:p.Gly2236Arg
XM_011522381.2:c.6214G>C	XP_011520683.1:p.Gly2072Arg
XM_017022944.1:c.6961G>C	XP_016878433.1:p.Gly2321Arg
NM_004380.3:c.6967G>C MANE Select	NP_004371.2:p.Gly2323Arg