Canonical Allele Identifier: CA394566157

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2631698
• ClinVar RCV Id: RCV003397472
• dbSNP Id: rs2053922967
• MyVariant Identifiers: chr16:g.3860752A>G (hg19) ; chr16:g.3810751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810751A>G , CM000678.2:g.3810751A>G	GRCh38
NC_000016.9:g.3860752A>G , CM000678.1:g.3860752A>G	GRCh37
NC_000016.8:g.3800753A>G	NCBI36
NG_009873.1:g.74370T>C
NG_009873.2:g.74963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.827T>C MANE Select	ENSP00000262367.5:p.Phe276Ser
ENST00000635899.1:n.69T>C
ENST00000262367.9:c.827T>C	ENSP00000262367.5:p.Phe276Ser
ENST00000382070.7:c.827T>C	ENSP00000371502.3:p.Phe276Ser
NM_001079846.1:c.827T>C	NP_001073315.1:p.Phe276Ser
NM_004380.2:c.827T>C	NP_004371.2:p.Phe276Ser
XM_005255124.3:c.827T>C	XP_005255181.1:p.Phe276Ser
XM_005255125.3:c.827T>C	XP_005255182.1:p.Phe276Ser
XM_006720848.2:c.827T>C	XP_006720911.1:p.Phe276Ser
XM_011522380.1:c.773T>C	XP_011520682.1:p.Phe258Ser
XM_011522381.1:c.74T>C	XP_011520683.1:p.Phe25Ser
XM_011522382.1:c.827T>C	XP_011520684.1:p.Phe276Ser
XM_005255124.4:c.827T>C	XP_005255181.1:p.Phe276Ser
XM_005255125.4:c.827T>C	XP_005255182.1:p.Phe276Ser
XM_006720848.3:c.827T>C	XP_006720911.1:p.Phe276Ser
XM_011522381.2:c.74T>C	XP_011520683.1:p.Phe25Ser
XM_011522382.3:c.827T>C	XP_011520684.1:p.Phe276Ser
XM_017022944.1:c.827T>C	XP_016878433.1:p.Phe276Ser
NM_004380.3:c.827T>C MANE Select	NP_004371.2:p.Phe276Ser