Canonical Allele Identifier: CA394564894

Gene: CREBBP

Linked Data

• dbSNP Id: rs1064796948
• MyVariant Identifiers: chr16:g.3789675G>C (hg19) ; chr16:g.3739674G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4184C>G MANE Select	ENSP00000262367.5:p.Ala1395Gly
ENST00000262367.9:c.4184C>G	ENSP00000262367.5:p.Ala1395Gly
ENST00000382070.7:c.4070C>G	ENSP00000371502.3:p.Ala1357Gly
ENST00000570939.2:c.2819C>G	ENSP00000461002.2:p.Ala940Gly
ENST00000573517.6:c.490C>G
ENST00000574740.1:n.215+725C>G
ENST00000576720.1:n.3121C>G
NM_001079846.1:c.4070C>G	NP_001073315.1:p.Ala1357Gly
NM_004380.2:c.4184C>G	NP_004371.2:p.Ala1395Gly
XM_005255124.3:c.4139C>G	XP_005255181.1:p.Ala1380Gly
XM_005255125.3:c.3767C>G	XP_005255182.1:p.Ala1256Gly
XM_006720848.2:c.4133+725C>G	XP_006720911.1:n.4133+725C>G
XM_011522380.1:c.4130C>G	XP_011520682.1:p.Ala1377Gly
XM_011522381.1:c.3431C>G	XP_011520683.1:p.Ala1144Gly
XM_005255124.4:c.4139C>G	XP_005255181.1:p.Ala1380Gly
XM_005255125.4:c.3767C>G	XP_005255182.1:p.Ala1256Gly
XM_006720848.3:c.4133+725C>G	XP_006720911.1:n.4133+725C>G
XM_011522381.2:c.3431C>G	XP_011520683.1:p.Ala1144Gly
XM_017022944.1:c.4178C>G	XP_016878433.1:p.Ala1393Gly
NM_004380.3:c.4184C>G MANE Select	NP_004371.2:p.Ala1395Gly