Canonical Allele Identifier: CA10603272

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 279963
• ClinVar RCV Id: RCV000334678 ; RCV000850544
• dbSNP Id: rs886041286
• MyVariant Identifiers: chr16:g.3786772T>C (hg19) ; chr16:g.3736771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736771T>C , CM000678.2:g.3736771T>C	GRCh38
NC_000016.9:g.3786772T>C , CM000678.1:g.3786772T>C	GRCh37
NC_000016.8:g.3726773T>C	NCBI36
NG_009873.1:g.148350A>G
NG_009873.2:g.148943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4439A>G MANE Select	ENSP00000262367.5:p.Asp1480Gly
ENST00000262367.9:c.4439A>G	ENSP00000262367.5:p.Asp1480Gly
ENST00000382070.7:c.4325A>G	ENSP00000371502.3:p.Asp1442Gly
ENST00000570939.2:c.3074A>G	ENSP00000461002.2:p.Asp1025Gly
ENST00000571763.5:n.229A>G
ENST00000574740.1:n.260A>G
ENST00000576720.1:n.3262A>G
NM_001079846.1:c.4325A>G	NP_001073315.1:p.Asp1442Gly
NM_004380.2:c.4439A>G	NP_004371.2:p.Asp1480Gly
XM_005255124.3:c.4394A>G	XP_005255181.1:p.Asp1465Gly
XM_005255125.3:c.4022A>G	XP_005255182.1:p.Asp1341Gly
XM_006720848.2:c.4178A>G	XP_006720911.1:p.Asp1393Gly
XM_011522380.1:c.4385A>G	XP_011520682.1:p.Asp1462Gly
XM_011522381.1:c.3686A>G	XP_011520683.1:p.Asp1229Gly
XM_005255124.4:c.4394A>G	XP_005255181.1:p.Asp1465Gly
XM_005255125.4:c.4022A>G	XP_005255182.1:p.Asp1341Gly
XM_006720848.3:c.4178A>G	XP_006720911.1:p.Asp1393Gly
XM_011522381.2:c.3686A>G	XP_011520683.1:p.Asp1229Gly
XM_017022944.1:c.4433A>G	XP_016878433.1:p.Asp1478Gly
NM_004380.3:c.4439A>G MANE Select	NP_004371.2:p.Asp1480Gly