Canonical Allele Identifier: CA394566220

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2956335
• ClinVar RCV Id: RCV003814071
• dbSNP Id: rs2053923650
• MyVariant Identifiers: chr16:g.3860774T>C (hg19) ; chr16:g.3810773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810773T>C , CM000678.2:g.3810773T>C	GRCh38
NC_000016.9:g.3860774T>C , CM000678.1:g.3860774T>C	GRCh37
NC_000016.8:g.3800775T>C	NCBI36
NG_009873.1:g.74348A>G
NG_009873.2:g.74941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.805A>G MANE Select	ENSP00000262367.5:p.Ile269Val
ENST00000635899.1:n.47A>G
ENST00000262367.9:c.805A>G	ENSP00000262367.5:p.Ile269Val
ENST00000382070.7:c.805A>G	ENSP00000371502.3:p.Ile269Val
NM_001079846.1:c.805A>G	NP_001073315.1:p.Ile269Val
NM_004380.2:c.805A>G	NP_004371.2:p.Ile269Val
XM_005255124.3:c.805A>G	XP_005255181.1:p.Ile269Val
XM_005255125.3:c.805A>G	XP_005255182.1:p.Ile269Val
XM_006720848.2:c.805A>G	XP_006720911.1:p.Ile269Val
XM_011522380.1:c.751A>G	XP_011520682.1:p.Ile251Val
XM_011522381.1:c.52A>G	XP_011520683.1:p.Ile18Val
XM_011522382.1:c.805A>G	XP_011520684.1:p.Ile269Val
XM_005255124.4:c.805A>G	XP_005255181.1:p.Ile269Val
XM_005255125.4:c.805A>G	XP_005255182.1:p.Ile269Val
XM_006720848.3:c.805A>G	XP_006720911.1:p.Ile269Val
XM_011522381.2:c.52A>G	XP_011520683.1:p.Ile18Val
XM_011522382.3:c.805A>G	XP_011520684.1:p.Ile269Val
XM_017022944.1:c.805A>G	XP_016878433.1:p.Ile269Val
NM_004380.3:c.805A>G MANE Select	NP_004371.2:p.Ile269Val