Canonical Allele Identifier: CA7870561

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2918316
• ClinVar RCV Id: RCV003761131
• dbSNP Id: rs762450931
• ExAC: 16:3860638 A / G
• gnomAD v2: 16-3860638-A-G
• gnomAD v3: 16-3810637-A-G
• gnomAD v4: 16-3810637-A-G
• MyVariant Identifiers: chr16:g.3860638A>G (hg19) ; chr16:g.3810637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810637A>G , CM000678.2:g.3810637A>G	GRCh38
NC_000016.9:g.3860638A>G , CM000678.1:g.3860638A>G	GRCh37
NC_000016.8:g.3800639A>G	NCBI36
NG_009873.1:g.74484T>C
NG_009873.2:g.75077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.941T>C MANE Select	ENSP00000262367.5:p.Ile314Thr
ENST00000262367.9:c.941T>C	ENSP00000262367.5:p.Ile314Thr
ENST00000382070.7:c.941T>C	ENSP00000371502.3:p.Ile314Thr
NM_001079846.1:c.941T>C	NP_001073315.1:p.Ile314Thr
NM_004380.2:c.941T>C	NP_004371.2:p.Ile314Thr
XM_005255124.3:c.941T>C	XP_005255181.1:p.Ile314Thr
XM_005255125.3:c.941T>C	XP_005255182.1:p.Ile314Thr
XM_006720848.2:c.941T>C	XP_006720911.1:p.Ile314Thr
XM_011522380.1:c.887T>C	XP_011520682.1:p.Ile296Thr
XM_011522381.1:c.188T>C	XP_011520683.1:p.Ile63Thr
XM_011522382.1:c.941T>C	XP_011520684.1:p.Ile314Thr
XM_005255124.4:c.941T>C	XP_005255181.1:p.Ile314Thr
XM_005255125.4:c.941T>C	XP_005255182.1:p.Ile314Thr
XM_006720848.3:c.941T>C	XP_006720911.1:p.Ile314Thr
XM_011522381.2:c.188T>C	XP_011520683.1:p.Ile63Thr
XM_011522382.3:c.941T>C	XP_011520684.1:p.Ile314Thr
XM_017022944.1:c.941T>C	XP_016878433.1:p.Ile314Thr
NM_004380.3:c.941T>C MANE Select	NP_004371.2:p.Ile314Thr