Canonical Allele Identifier: CA7868916

Gene: CREBBP

Linked Data

• dbSNP Id: rs775691341
• ExAC: 16:3777757 T / C
• gnomAD v2: 16-3777757-T-C
• gnomAD v4: 16-3727756-T-C
• MyVariant Identifiers: chr16:g.3777757T>C (hg19) ; chr16:g.3727756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727756T>C , CM000678.2:g.3727756T>C	GRCh38
NC_000016.9:g.3777757T>C , CM000678.1:g.3777757T>C	GRCh37
NC_000016.8:g.3717758T>C	NCBI36
NG_009873.1:g.157365A>G
NG_009873.2:g.157958A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7291A>G MANE Select	ENSP00000262367.5:p.Thr2431Ala
ENST00000262367.9:c.7291A>G	ENSP00000262367.5:p.Thr2431Ala
ENST00000382070.7:c.7177A>G	ENSP00000371502.3:p.Thr2393Ala
NM_001079846.1:c.7177A>G	NP_001073315.1:p.Thr2393Ala
NM_004380.2:c.7291A>G	NP_004371.2:p.Thr2431Ala
XM_005255124.3:c.7246A>G	XP_005255181.1:p.Thr2416Ala
XM_005255125.3:c.6874A>G	XP_005255182.1:p.Thr2292Ala
XM_006720848.2:c.7030A>G	XP_006720911.1:p.Thr2344Ala
XM_011522380.1:c.7237A>G	XP_011520682.1:p.Thr2413Ala
XM_011522381.1:c.6538A>G	XP_011520683.1:p.Thr2180Ala
XM_005255124.4:c.7246A>G	XP_005255181.1:p.Thr2416Ala
XM_005255125.4:c.6874A>G	XP_005255182.1:p.Thr2292Ala
XM_006720848.3:c.7030A>G	XP_006720911.1:p.Thr2344Ala
XM_011522381.2:c.6538A>G	XP_011520683.1:p.Thr2180Ala
XM_017022944.1:c.7285A>G	XP_016878433.1:p.Thr2429Ala
NM_004380.3:c.7291A>G MANE Select	NP_004371.2:p.Thr2431Ala