Canonical Allele Identifier: CA394550543

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299303
• MyVariant Identifiers: chr16:g.3777952G>C (hg19) ; chr16:g.3727951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727951G>C , CM000678.2:g.3727951G>C	GRCh38
NC_000016.9:g.3777952G>C , CM000678.1:g.3777952G>C	GRCh37
NC_000016.8:g.3717953G>C	NCBI36
NG_009873.1:g.157170C>G
NG_009873.2:g.157763C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7096C>G MANE Select	ENSP00000262367.5:p.Arg2366Gly
ENST00000262367.9:c.7096C>G	ENSP00000262367.5:p.Arg2366Gly
ENST00000382070.7:c.6982C>G	ENSP00000371502.3:p.Arg2328Gly
NM_001079846.1:c.6982C>G	NP_001073315.1:p.Arg2328Gly
NM_004380.2:c.7096C>G	NP_004371.2:p.Arg2366Gly
XM_005255124.3:c.7051C>G	XP_005255181.1:p.Arg2351Gly
XM_005255125.3:c.6679C>G	XP_005255182.1:p.Arg2227Gly
XM_006720848.2:c.6835C>G	XP_006720911.1:p.Arg2279Gly
XM_011522380.1:c.7042C>G	XP_011520682.1:p.Arg2348Gly
XM_011522381.1:c.6343C>G	XP_011520683.1:p.Arg2115Gly
XM_005255124.4:c.7051C>G	XP_005255181.1:p.Arg2351Gly
XM_005255125.4:c.6679C>G	XP_005255182.1:p.Arg2227Gly
XM_006720848.3:c.6835C>G	XP_006720911.1:p.Arg2279Gly
XM_011522381.2:c.6343C>G	XP_011520683.1:p.Arg2115Gly
XM_017022944.1:c.7090C>G	XP_016878433.1:p.Arg2364Gly
NM_004380.3:c.7096C>G MANE Select	NP_004371.2:p.Arg2366Gly