Canonical Allele Identifier: CA7869193

Gene: CREBBP

Linked Data

• dbSNP Id: rs369523607
• ExAC: 16:3779009 C / T
• gnomAD v2: 16-3779009-C-T
• gnomAD v3: 16-3729008-C-T
• gnomAD v4: 16-3729008-C-T
• MyVariant Identifiers: chr16:g.3779009C>T (hg19) ; chr16:g.3729008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729008C>T , CM000678.2:g.3729008C>T	GRCh38
NC_000016.9:g.3779009C>T , CM000678.1:g.3779009C>T	GRCh37
NC_000016.8:g.3719010C>T	NCBI36
NG_009873.1:g.156113G>A
NG_009873.2:g.156706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6039G>A MANE Select	ENSP00000262367.5:p.Met2013Ile
ENST00000262367.9:c.6039G>A	ENSP00000262367.5:p.Met2013Ile
ENST00000382070.7:c.5925G>A	ENSP00000371502.3:p.Met1975Ile
NM_001079846.1:c.5925G>A	NP_001073315.1:p.Met1975Ile
NM_004380.2:c.6039G>A	NP_004371.2:p.Met2013Ile
XM_005255124.3:c.5994G>A	XP_005255181.1:p.Met1998Ile
XM_005255125.3:c.5622G>A	XP_005255182.1:p.Met1874Ile
XM_006720848.2:c.5778G>A	XP_006720911.1:p.Met1926Ile
XM_011522380.1:c.5985G>A	XP_011520682.1:p.Met1995Ile
XM_011522381.1:c.5286G>A	XP_011520683.1:p.Met1762Ile
XM_005255124.4:c.5994G>A	XP_005255181.1:p.Met1998Ile
XM_005255125.4:c.5622G>A	XP_005255182.1:p.Met1874Ile
XM_006720848.3:c.5778G>A	XP_006720911.1:p.Met1926Ile
XM_011522381.2:c.5286G>A	XP_011520683.1:p.Met1762Ile
XM_017022944.1:c.6033G>A	XP_016878433.1:p.Met2011Ile
NM_004380.3:c.6039G>A MANE Select	NP_004371.2:p.Met2013Ile