Canonical Allele Identifier: CA394564862

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3789660T>G (hg19) ; chr16:g.3739659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739659T>G , CM000678.2:g.3739659T>G	GRCh38
NC_000016.9:g.3789660T>G , CM000678.1:g.3789660T>G	GRCh37
NC_000016.8:g.3729661T>G	NCBI36
NG_009873.1:g.145462A>C
NG_009873.2:g.146055A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4199A>C MANE Select	ENSP00000262367.5:p.Glu1400Ala
ENST00000262367.9:c.4199A>C	ENSP00000262367.5:p.Glu1400Ala
ENST00000382070.7:c.4085A>C	ENSP00000371502.3:p.Glu1362Ala
ENST00000570939.2:c.2834A>C	ENSP00000461002.2:p.Glu945Ala
ENST00000573517.6:c.505A>C
ENST00000574740.1:n.215+740A>C
ENST00000576720.1:n.3136A>C
NM_001079846.1:c.4085A>C	NP_001073315.1:p.Glu1362Ala
NM_004380.2:c.4199A>C	NP_004371.2:p.Glu1400Ala
XM_005255124.3:c.4154A>C	XP_005255181.1:p.Glu1385Ala
XM_005255125.3:c.3782A>C	XP_005255182.1:p.Glu1261Ala
XM_006720848.2:c.4133+740A>C	XP_006720911.1:n.4133+740A>C
XM_011522380.1:c.4145A>C	XP_011520682.1:p.Glu1382Ala
XM_011522381.1:c.3446A>C	XP_011520683.1:p.Glu1149Ala
XM_005255124.4:c.4154A>C	XP_005255181.1:p.Glu1385Ala
XM_005255125.4:c.3782A>C	XP_005255182.1:p.Glu1261Ala
XM_006720848.3:c.4133+740A>C	XP_006720911.1:n.4133+740A>C
XM_011522381.2:c.3446A>C	XP_011520683.1:p.Glu1149Ala
XM_017022944.1:c.4193A>C	XP_016878433.1:p.Glu1398Ala
NM_004380.3:c.4199A>C MANE Select	NP_004371.2:p.Glu1400Ala