Canonical Allele Identifier: CA394553665

Gene: CREBBP

Linked Data

• dbSNP Id: rs1489860615
• gnomAD v4: 16-3728737-G-C
• MyVariant Identifiers: chr16:g.3778738G>C (hg19) ; chr16:g.3728737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728737G>C , CM000678.2:g.3728737G>C	GRCh38
NC_000016.9:g.3778738G>C , CM000678.1:g.3778738G>C	GRCh37
NC_000016.8:g.3718739G>C	NCBI36
NG_009873.1:g.156384C>G
NG_009873.2:g.156977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6310C>G MANE Select	ENSP00000262367.5:p.Arg2104Gly
ENST00000262367.9:c.6310C>G	ENSP00000262367.5:p.Arg2104Gly
ENST00000382070.7:c.6196C>G	ENSP00000371502.3:p.Arg2066Gly
NM_001079846.1:c.6196C>G	NP_001073315.1:p.Arg2066Gly
NM_004380.2:c.6310C>G	NP_004371.2:p.Arg2104Gly
XM_005255124.3:c.6265C>G	XP_005255181.1:p.Arg2089Gly
XM_005255125.3:c.5893C>G	XP_005255182.1:p.Arg1965Gly
XM_006720848.2:c.6049C>G	XP_006720911.1:p.Arg2017Gly
XM_011522380.1:c.6256C>G	XP_011520682.1:p.Arg2086Gly
XM_011522381.1:c.5557C>G	XP_011520683.1:p.Arg1853Gly
XM_005255124.4:c.6265C>G	XP_005255181.1:p.Arg2089Gly
XM_005255125.4:c.5893C>G	XP_005255182.1:p.Arg1965Gly
XM_006720848.3:c.6049C>G	XP_006720911.1:p.Arg2017Gly
XM_011522381.2:c.5557C>G	XP_011520683.1:p.Arg1853Gly
XM_017022944.1:c.6304C>G	XP_016878433.1:p.Arg2102Gly
NM_004380.3:c.6310C>G MANE Select	NP_004371.2:p.Arg2104Gly