Canonical Allele Identifier: CA16620205

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 424384
• ClinVar RCV Id: RCV000485827
• dbSNP Id: rs1064796948
• MyVariant Identifiers: chr16:g.3789675G>T (hg19) ; chr16:g.3739674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739674G>T , CM000678.2:g.3739674G>T	GRCh38
NC_000016.9:g.3789675G>T , CM000678.1:g.3789675G>T	GRCh37
NC_000016.8:g.3729676G>T	NCBI36
NG_009873.1:g.145447C>A
NG_009873.2:g.146040C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4184C>A MANE Select	ENSP00000262367.5:p.Ala1395Asp
ENST00000262367.9:c.4184C>A	ENSP00000262367.5:p.Ala1395Asp
ENST00000382070.7:c.4070C>A	ENSP00000371502.3:p.Ala1357Asp
ENST00000570939.2:c.2819C>A	ENSP00000461002.2:p.Ala940Asp
ENST00000573517.6:c.490C>A
ENST00000574740.1:n.215+725C>A
ENST00000576720.1:n.3121C>A
NM_001079846.1:c.4070C>A	NP_001073315.1:p.Ala1357Asp
NM_004380.2:c.4184C>A	NP_004371.2:p.Ala1395Asp
XM_005255124.3:c.4139C>A	XP_005255181.1:p.Ala1380Asp
XM_005255125.3:c.3767C>A	XP_005255182.1:p.Ala1256Asp
XM_006720848.2:c.4133+725C>A	XP_006720911.1:n.4133+725C>A
XM_011522380.1:c.4130C>A	XP_011520682.1:p.Ala1377Asp
XM_011522381.1:c.3431C>A	XP_011520683.1:p.Ala1144Asp
XM_005255124.4:c.4139C>A	XP_005255181.1:p.Ala1380Asp
XM_005255125.4:c.3767C>A	XP_005255182.1:p.Ala1256Asp
XM_006720848.3:c.4133+725C>A	XP_006720911.1:n.4133+725C>A
XM_011522381.2:c.3431C>A	XP_011520683.1:p.Ala1144Asp
XM_017022944.1:c.4178C>A	XP_016878433.1:p.Ala1393Asp
NM_004380.3:c.4184C>A MANE Select	NP_004371.2:p.Ala1395Asp