Canonical Allele Identifier: CA493395006

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141201818
• MyVariant Identifiers: chr16:g.3820775C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770774C>G , CM000678.2:g.3770774C>G	GRCh38
NC_000016.9:g.3820775C>G , CM000678.1:g.3820775C>G	GRCh37
NC_000016.8:g.3760776C>G	NCBI36
NG_009873.1:g.114347G>C
NG_009873.2:g.114940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2676G>C MANE Select	ENSP00000262367.5:p.Val892=
ENST00000262367.9:c.2676G>C	ENSP00000262367.5:p.Val892=
ENST00000382070.7:c.2562G>C	ENSP00000371502.3:p.Val854=
ENST00000570939.2:c.1281G>C	ENSP00000461002.2:p.Val427=
NM_001079846.1:c.2562G>C	NP_001073315.1:p.Val854=
NM_004380.2:c.2676G>C	NP_004371.2:p.Val892=
XM_005255124.3:c.2631G>C	XP_005255181.1:p.Val877=
XM_005255125.3:c.2464-1421G>C	XP_005255182.1:n.2464-1421G>C
XM_006720848.2:c.2676G>C	XP_006720911.1:p.Val892=
XM_011522380.1:c.2622G>C	XP_011520682.1:p.Val874=
XM_011522381.1:c.1923G>C	XP_011520683.1:p.Val641=
XM_011522382.1:c.2676G>C	XP_011520684.1:p.Val892=
XM_005255124.4:c.2631G>C	XP_005255181.1:p.Val877=
XM_005255125.4:c.2464-1421G>C	XP_005255182.1:n.2464-1421G>C
XM_006720848.3:c.2676G>C	XP_006720911.1:p.Val892=
XM_011522381.2:c.1923G>C	XP_011520683.1:p.Val641=
XM_011522382.3:c.2676G>C	XP_011520684.1:p.Val892=
XM_017022944.1:c.2670G>C	XP_016878433.1:p.Val890=
NM_004380.3:c.2676G>C MANE Select	NP_004371.2:p.Val892=