Canonical Allele Identifier: CA394563764

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786741A>C (hg19) ; chr16:g.3736740A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736740A>C , CM000678.2:g.3736740A>C	GRCh38
NC_000016.9:g.3786741A>C , CM000678.1:g.3786741A>C	GRCh37
NC_000016.8:g.3726742A>C	NCBI36
NG_009873.1:g.148381T>G
NG_009873.2:g.148974T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4470T>G MANE Select	ENSP00000262367.5:p.Asp1490Glu
ENST00000262367.9:c.4470T>G	ENSP00000262367.5:p.Asp1490Glu
ENST00000382070.7:c.4356T>G	ENSP00000371502.3:p.Asp1452Glu
ENST00000570939.2:c.3105T>G	ENSP00000461002.2:p.Asp1035Glu
ENST00000571763.5:n.260T>G
ENST00000574740.1:n.291T>G
ENST00000576720.1:n.3293T>G
NM_001079846.1:c.4356T>G	NP_001073315.1:p.Asp1452Glu
NM_004380.2:c.4470T>G	NP_004371.2:p.Asp1490Glu
XM_005255124.3:c.4425T>G	XP_005255181.1:p.Asp1475Glu
XM_005255125.3:c.4053T>G	XP_005255182.1:p.Asp1351Glu
XM_006720848.2:c.4209T>G	XP_006720911.1:p.Asp1403Glu
XM_011522380.1:c.4416T>G	XP_011520682.1:p.Asp1472Glu
XM_011522381.1:c.3717T>G	XP_011520683.1:p.Asp1239Glu
XM_005255124.4:c.4425T>G	XP_005255181.1:p.Asp1475Glu
XM_005255125.4:c.4053T>G	XP_005255182.1:p.Asp1351Glu
XM_006720848.3:c.4209T>G	XP_006720911.1:p.Asp1403Glu
XM_011522381.2:c.3717T>G	XP_011520683.1:p.Asp1239Glu
XM_017022944.1:c.4464T>G	XP_016878433.1:p.Asp1488Glu
NM_004380.3:c.4470T>G MANE Select	NP_004371.2:p.Asp1490Glu