Canonical Allele Identifier: CA394550266

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298463
• MyVariant Identifiers: chr16:g.3777823G>C (hg19) ; chr16:g.3727822G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727822G>C , CM000678.2:g.3727822G>C	GRCh38
NC_000016.9:g.3777823G>C , CM000678.1:g.3777823G>C	GRCh37
NC_000016.8:g.3717824G>C	NCBI36
NG_009873.1:g.157299C>G
NG_009873.2:g.157892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7225C>G MANE Select	ENSP00000262367.5:p.Leu2409Val
ENST00000262367.9:c.7225C>G	ENSP00000262367.5:p.Leu2409Val
ENST00000382070.7:c.7111C>G	ENSP00000371502.3:p.Leu2371Val
NM_001079846.1:c.7111C>G	NP_001073315.1:p.Leu2371Val
NM_004380.2:c.7225C>G	NP_004371.2:p.Leu2409Val
XM_005255124.3:c.7180C>G	XP_005255181.1:p.Leu2394Val
XM_005255125.3:c.6808C>G	XP_005255182.1:p.Leu2270Val
XM_006720848.2:c.6964C>G	XP_006720911.1:p.Leu2322Val
XM_011522380.1:c.7171C>G	XP_011520682.1:p.Leu2391Val
XM_011522381.1:c.6472C>G	XP_011520683.1:p.Leu2158Val
XM_005255124.4:c.7180C>G	XP_005255181.1:p.Leu2394Val
XM_005255125.4:c.6808C>G	XP_005255182.1:p.Leu2270Val
XM_006720848.3:c.6964C>G	XP_006720911.1:p.Leu2322Val
XM_011522381.2:c.6472C>G	XP_011520683.1:p.Leu2158Val
XM_017022944.1:c.7219C>G	XP_016878433.1:p.Leu2407Val
NM_004380.3:c.7225C>G MANE Select	NP_004371.2:p.Leu2409Val