Canonical Allele Identifier: CA394563767

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329686
• gnomAD v4: 16-3736740-A-T
• MyVariant Identifiers: chr16:g.3786741A>T (hg19) ; chr16:g.3736740A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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