Canonical Allele Identifier: CA394553895

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305506
• MyVariant Identifiers: chr16:g.3778842T>G (hg19) ; chr16:g.3728841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728841T>G , CM000678.2:g.3728841T>G	GRCh38
NC_000016.9:g.3778842T>G , CM000678.1:g.3778842T>G	GRCh37
NC_000016.8:g.3718843T>G	NCBI36
NG_009873.1:g.156280A>C
NG_009873.2:g.156873A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6206A>C MANE Select	ENSP00000262367.5:p.Asp2069Ala
ENST00000262367.9:c.6206A>C	ENSP00000262367.5:p.Asp2069Ala
ENST00000382070.7:c.6092A>C	ENSP00000371502.3:p.Asp2031Ala
NM_001079846.1:c.6092A>C	NP_001073315.1:p.Asp2031Ala
NM_004380.2:c.6206A>C	NP_004371.2:p.Asp2069Ala
XM_005255124.3:c.6161A>C	XP_005255181.1:p.Asp2054Ala
XM_005255125.3:c.5789A>C	XP_005255182.1:p.Asp1930Ala
XM_006720848.2:c.5945A>C	XP_006720911.1:p.Asp1982Ala
XM_011522380.1:c.6152A>C	XP_011520682.1:p.Asp2051Ala
XM_011522381.1:c.5453A>C	XP_011520683.1:p.Asp1818Ala
XM_005255124.4:c.6161A>C	XP_005255181.1:p.Asp2054Ala
XM_005255125.4:c.5789A>C	XP_005255182.1:p.Asp1930Ala
XM_006720848.3:c.5945A>C	XP_006720911.1:p.Asp1982Ala
XM_011522381.2:c.5453A>C	XP_011520683.1:p.Asp1818Ala
XM_017022944.1:c.6200A>C	XP_016878433.1:p.Asp2067Ala
NM_004380.3:c.6206A>C MANE Select	NP_004371.2:p.Asp2069Ala