Canonical Allele Identifier: CA394563970

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786778T>G (hg19) ; chr16:g.3736777T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736777T>G , CM000678.2:g.3736777T>G	GRCh38
NC_000016.9:g.3786778T>G , CM000678.1:g.3786778T>G	GRCh37
NC_000016.8:g.3726779T>G	NCBI36
NG_009873.1:g.148344A>C
NG_009873.2:g.148937A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4433A>C MANE Select	ENSP00000262367.5:p.Glu1478Ala
ENST00000262367.9:c.4433A>C	ENSP00000262367.5:p.Glu1478Ala
ENST00000382070.7:c.4319A>C	ENSP00000371502.3:p.Glu1440Ala
ENST00000570939.2:c.3068A>C	ENSP00000461002.2:p.Glu1023Ala
ENST00000571763.5:n.223A>C
ENST00000574740.1:n.254A>C
ENST00000576720.1:n.3256A>C
NM_001079846.1:c.4319A>C	NP_001073315.1:p.Glu1440Ala
NM_004380.2:c.4433A>C	NP_004371.2:p.Glu1478Ala
XM_005255124.3:c.4388A>C	XP_005255181.1:p.Glu1463Ala
XM_005255125.3:c.4016A>C	XP_005255182.1:p.Glu1339Ala
XM_006720848.2:c.4172A>C	XP_006720911.1:p.Glu1391Ala
XM_011522380.1:c.4379A>C	XP_011520682.1:p.Glu1460Ala
XM_011522381.1:c.3680A>C	XP_011520683.1:p.Glu1227Ala
XM_005255124.4:c.4388A>C	XP_005255181.1:p.Glu1463Ala
XM_005255125.4:c.4016A>C	XP_005255182.1:p.Glu1339Ala
XM_006720848.3:c.4172A>C	XP_006720911.1:p.Glu1391Ala
XM_011522381.2:c.3680A>C	XP_011520683.1:p.Glu1227Ala
XM_017022944.1:c.4427A>C	XP_016878433.1:p.Glu1476Ala
NM_004380.3:c.4433A>C MANE Select	NP_004371.2:p.Glu1478Ala