Canonical Allele Identifier: CA394554658

Gene: CREBBP

Linked Data

• dbSNP Id: rs1453142862
• gnomAD v4: 16-3729046-T-C
• MyVariant Identifiers: chr16:g.3779047T>C (hg19) ; chr16:g.3729046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729046T>C , CM000678.2:g.3729046T>C	GRCh38
NC_000016.9:g.3779047T>C , CM000678.1:g.3779047T>C	GRCh37
NC_000016.8:g.3719048T>C	NCBI36
NG_009873.1:g.156075A>G
NG_009873.2:g.156668A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6001A>G MANE Select	ENSP00000262367.5:p.Asn2001Asp
ENST00000262367.9:c.6001A>G	ENSP00000262367.5:p.Asn2001Asp
ENST00000382070.7:c.5887A>G	ENSP00000371502.3:p.Asn1963Asp
NM_001079846.1:c.5887A>G	NP_001073315.1:p.Asn1963Asp
NM_004380.2:c.6001A>G	NP_004371.2:p.Asn2001Asp
XM_005255124.3:c.5956A>G	XP_005255181.1:p.Asn1986Asp
XM_005255125.3:c.5584A>G	XP_005255182.1:p.Asn1862Asp
XM_006720848.2:c.5740A>G	XP_006720911.1:p.Asn1914Asp
XM_011522380.1:c.5947A>G	XP_011520682.1:p.Asn1983Asp
XM_011522381.1:c.5248A>G	XP_011520683.1:p.Asn1750Asp
XM_005255124.4:c.5956A>G	XP_005255181.1:p.Asn1986Asp
XM_005255125.4:c.5584A>G	XP_005255182.1:p.Asn1862Asp
XM_006720848.3:c.5740A>G	XP_006720911.1:p.Asn1914Asp
XM_011522381.2:c.5248A>G	XP_011520683.1:p.Asn1750Asp
XM_017022944.1:c.5995A>G	XP_016878433.1:p.Asn1999Asp
NM_004380.3:c.6001A>G MANE Select	NP_004371.2:p.Asn2001Asp