Canonical Allele Identifier: CA394550529

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299252
• MyVariant Identifiers: chr16:g.3777945T>C (hg19) ; chr16:g.3727944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727944T>C , CM000678.2:g.3727944T>C	GRCh38
NC_000016.9:g.3777945T>C , CM000678.1:g.3777945T>C	GRCh37
NC_000016.8:g.3717946T>C	NCBI36
NG_009873.1:g.157177A>G
NG_009873.2:g.157770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7103A>G MANE Select	ENSP00000262367.5:p.Gln2368Arg
ENST00000262367.9:c.7103A>G	ENSP00000262367.5:p.Gln2368Arg
ENST00000382070.7:c.6989A>G	ENSP00000371502.3:p.Gln2330Arg
NM_001079846.1:c.6989A>G	NP_001073315.1:p.Gln2330Arg
NM_004380.2:c.7103A>G	NP_004371.2:p.Gln2368Arg
XM_005255124.3:c.7058A>G	XP_005255181.1:p.Gln2353Arg
XM_005255125.3:c.6686A>G	XP_005255182.1:p.Gln2229Arg
XM_006720848.2:c.6842A>G	XP_006720911.1:p.Gln2281Arg
XM_011522380.1:c.7049A>G	XP_011520682.1:p.Gln2350Arg
XM_011522381.1:c.6350A>G	XP_011520683.1:p.Gln2117Arg
XM_005255124.4:c.7058A>G	XP_005255181.1:p.Gln2353Arg
XM_005255125.4:c.6686A>G	XP_005255182.1:p.Gln2229Arg
XM_006720848.3:c.6842A>G	XP_006720911.1:p.Gln2281Arg
XM_011522381.2:c.6350A>G	XP_011520683.1:p.Gln2117Arg
XM_017022944.1:c.7097A>G	XP_016878433.1:p.Gln2366Arg
NM_004380.3:c.7103A>G MANE Select	NP_004371.2:p.Gln2368Arg