Canonical Allele Identifier: CA394563941

Gene: CREBBP

Linked Data

• dbSNP Id: rs774292416
• MyVariant Identifiers: chr16:g.3786771A>C (hg19) ; chr16:g.3736770A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736770A>C , CM000678.2:g.3736770A>C	GRCh38
NC_000016.9:g.3786771A>C , CM000678.1:g.3786771A>C	GRCh37
NC_000016.8:g.3726772A>C	NCBI36
NG_009873.1:g.148351T>G
NG_009873.2:g.148944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4440T>G MANE Select	ENSP00000262367.5:p.Asp1480Glu
ENST00000262367.9:c.4440T>G	ENSP00000262367.5:p.Asp1480Glu
ENST00000382070.7:c.4326T>G	ENSP00000371502.3:p.Asp1442Glu
ENST00000570939.2:c.3075T>G	ENSP00000461002.2:p.Asp1025Glu
ENST00000571763.5:n.230T>G
ENST00000574740.1:n.261T>G
ENST00000576720.1:n.3263T>G
NM_001079846.1:c.4326T>G	NP_001073315.1:p.Asp1442Glu
NM_004380.2:c.4440T>G	NP_004371.2:p.Asp1480Glu
XM_005255124.3:c.4395T>G	XP_005255181.1:p.Asp1465Glu
XM_005255125.3:c.4023T>G	XP_005255182.1:p.Asp1341Glu
XM_006720848.2:c.4179T>G	XP_006720911.1:p.Asp1393Glu
XM_011522380.1:c.4386T>G	XP_011520682.1:p.Asp1462Glu
XM_011522381.1:c.3687T>G	XP_011520683.1:p.Asp1229Glu
XM_005255124.4:c.4395T>G	XP_005255181.1:p.Asp1465Glu
XM_005255125.4:c.4023T>G	XP_005255182.1:p.Asp1341Glu
XM_006720848.3:c.4179T>G	XP_006720911.1:p.Asp1393Glu
XM_011522381.2:c.3687T>G	XP_011520683.1:p.Asp1229Glu
XM_017022944.1:c.4434T>G	XP_016878433.1:p.Asp1478Glu
NM_004380.3:c.4440T>G MANE Select	NP_004371.2:p.Asp1480Glu