Canonical Allele Identifier: CA394550541

Gene: CREBBP

Linked Data

• dbSNP Id: rs1338620715
• gnomAD v2: 16-3777951-C-T
• gnomAD v4: 16-3727950-C-T
• MyVariant Identifiers: chr16:g.3777951C>T (hg19) ; chr16:g.3727950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727950C>T , CM000678.2:g.3727950C>T	GRCh38
NC_000016.9:g.3777951C>T , CM000678.1:g.3777951C>T	GRCh37
NC_000016.8:g.3717952C>T	NCBI36
NG_009873.1:g.157171G>A
NG_009873.2:g.157764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7097G>A MANE Select	ENSP00000262367.5:p.Arg2366Gln
ENST00000262367.9:c.7097G>A	ENSP00000262367.5:p.Arg2366Gln
ENST00000382070.7:c.6983G>A	ENSP00000371502.3:p.Arg2328Gln
NM_001079846.1:c.6983G>A	NP_001073315.1:p.Arg2328Gln
NM_004380.2:c.7097G>A	NP_004371.2:p.Arg2366Gln
XM_005255124.3:c.7052G>A	XP_005255181.1:p.Arg2351Gln
XM_005255125.3:c.6680G>A	XP_005255182.1:p.Arg2227Gln
XM_006720848.2:c.6836G>A	XP_006720911.1:p.Arg2279Gln
XM_011522380.1:c.7043G>A	XP_011520682.1:p.Arg2348Gln
XM_011522381.1:c.6344G>A	XP_011520683.1:p.Arg2115Gln
XM_005255124.4:c.7052G>A	XP_005255181.1:p.Arg2351Gln
XM_005255125.4:c.6680G>A	XP_005255182.1:p.Arg2227Gln
XM_006720848.3:c.6836G>A	XP_006720911.1:p.Arg2279Gln
XM_011522381.2:c.6344G>A	XP_011520683.1:p.Arg2115Gln
XM_017022944.1:c.7091G>A	XP_016878433.1:p.Arg2364Gln
NM_004380.3:c.7097G>A MANE Select	NP_004371.2:p.Arg2366Gln