Canonical Allele Identifier: CA394565398

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596813665
• gnomAD v4: 16-3740492-C-T
• MyVariant Identifiers: chr16:g.3790493C>T (hg19) ; chr16:g.3740492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740492C>T , CM000678.2:g.3740492C>T	GRCh38
NC_000016.9:g.3790493C>T , CM000678.1:g.3790493C>T	GRCh37
NC_000016.8:g.3730494C>T	NCBI36
NG_009873.1:g.144629G>A
NG_009873.2:g.145222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4040G>A MANE Select	ENSP00000262367.5:p.Arg1347Gln
ENST00000262367.9:c.4040G>A	ENSP00000262367.5:p.Arg1347Gln
ENST00000382070.7:c.3926G>A	ENSP00000371502.3:p.Arg1309Gln
ENST00000570939.2:c.2675G>A	ENSP00000461002.2:p.Arg892Gln
ENST00000572569.1:n.504G>A
ENST00000573517.6:c.346G>A
ENST00000574740.1:n.122G>A
ENST00000576720.1:n.2977G>A
NM_001079846.1:c.3926G>A	NP_001073315.1:p.Arg1309Gln
NM_004380.2:c.4040G>A	NP_004371.2:p.Arg1347Gln
XM_005255124.3:c.3995G>A	XP_005255181.1:p.Arg1332Gln
XM_005255125.3:c.3623G>A	XP_005255182.1:p.Arg1208Gln
XM_006720848.2:c.4040G>A	XP_006720911.1:p.Arg1347Gln
XM_011522380.1:c.3986G>A	XP_011520682.1:p.Arg1329Gln
XM_011522381.1:c.3287G>A	XP_011520683.1:p.Arg1096Gln
XM_005255124.4:c.3995G>A	XP_005255181.1:p.Arg1332Gln
XM_005255125.4:c.3623G>A	XP_005255182.1:p.Arg1208Gln
XM_006720848.3:c.4040G>A	XP_006720911.1:p.Arg1347Gln
XM_011522381.2:c.3287G>A	XP_011520683.1:p.Arg1096Gln
XM_017022944.1:c.4034G>A	XP_016878433.1:p.Arg1345Gln
NM_004380.3:c.4040G>A MANE Select	NP_004371.2:p.Arg1347Gln