Canonical Allele Identifier: CA394553498

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2096733
• ClinVar RCV Id: RCV003028290
• dbSNP Id: rs2051820546
• MyVariant Identifiers: chr16:g.3778658C>G (hg19) ; chr16:g.3728657C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728657C>G , CM000678.2:g.3728657C>G	GRCh38
NC_000016.9:g.3778658C>G , CM000678.1:g.3778658C>G	GRCh37
NC_000016.8:g.3718659C>G	NCBI36
NG_009873.1:g.156464G>C
NG_009873.2:g.157057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6390G>C MANE Select	ENSP00000262367.5:p.Gln2130His
ENST00000262367.9:c.6390G>C	ENSP00000262367.5:p.Gln2130His
ENST00000382070.7:c.6276G>C	ENSP00000371502.3:p.Gln2092His
NM_001079846.1:c.6276G>C	NP_001073315.1:p.Gln2092His
NM_004380.2:c.6390G>C	NP_004371.2:p.Gln2130His
XM_005255124.3:c.6345G>C	XP_005255181.1:p.Gln2115His
XM_005255125.3:c.5973G>C	XP_005255182.1:p.Gln1991His
XM_006720848.2:c.6129G>C	XP_006720911.1:p.Gln2043His
XM_011522380.1:c.6336G>C	XP_011520682.1:p.Gln2112His
XM_011522381.1:c.5637G>C	XP_011520683.1:p.Gln1879His
XM_005255124.4:c.6345G>C	XP_005255181.1:p.Gln2115His
XM_005255125.4:c.5973G>C	XP_005255182.1:p.Gln1991His
XM_006720848.3:c.6129G>C	XP_006720911.1:p.Gln2043His
XM_011522381.2:c.5637G>C	XP_011520683.1:p.Gln1879His
XM_017022944.1:c.6384G>C	XP_016878433.1:p.Gln2128His
NM_004380.3:c.6390G>C MANE Select	NP_004371.2:p.Gln2130His