Canonical Allele Identifier: CA394550759

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3068070
• ClinVar RCV Id: RCV003991750
• dbSNP Id: rs886399777
• MyVariant Identifiers: chr16:g.3778020A>C (hg19) ; chr16:g.3728019A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728019A>C , CM000678.2:g.3728019A>C	GRCh38
NC_000016.9:g.3778020A>C , CM000678.1:g.3778020A>C	GRCh37
NC_000016.8:g.3718021A>C	NCBI36
NG_009873.1:g.157102T>G
NG_009873.2:g.157695T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7028T>G MANE Select	ENSP00000262367.5:p.Val2343Gly
ENST00000262367.9:c.7028T>G	ENSP00000262367.5:p.Val2343Gly
ENST00000382070.7:c.6914T>G	ENSP00000371502.3:p.Val2305Gly
NM_001079846.1:c.6914T>G	NP_001073315.1:p.Val2305Gly
NM_004380.2:c.7028T>G	NP_004371.2:p.Val2343Gly
XM_005255124.3:c.6983T>G	XP_005255181.1:p.Val2328Gly
XM_005255125.3:c.6611T>G	XP_005255182.1:p.Val2204Gly
XM_006720848.2:c.6767T>G	XP_006720911.1:p.Val2256Gly
XM_011522380.1:c.6974T>G	XP_011520682.1:p.Val2325Gly
XM_011522381.1:c.6275T>G	XP_011520683.1:p.Val2092Gly
XM_005255124.4:c.6983T>G	XP_005255181.1:p.Val2328Gly
XM_005255125.4:c.6611T>G	XP_005255182.1:p.Val2204Gly
XM_006720848.3:c.6767T>G	XP_006720911.1:p.Val2256Gly
XM_011522381.2:c.6275T>G	XP_011520683.1:p.Val2092Gly
XM_017022944.1:c.7022T>G	XP_016878433.1:p.Val2341Gly
NM_004380.3:c.7028T>G MANE Select	NP_004371.2:p.Val2343Gly