Canonical Allele Identifier: CA394550809

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2646130
• ClinVar RCV Id: RCV003426559
• gnomAD v4: 16-3728029-T-G
• MyVariant Identifiers: chr16:g.3778030T>G (hg19) ; chr16:g.3728029T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728029T>G , CM000678.2:g.3728029T>G	GRCh38
NC_000016.9:g.3778030T>G , CM000678.1:g.3778030T>G	GRCh37
NC_000016.8:g.3718031T>G	NCBI36
NG_009873.1:g.157092A>C
NG_009873.2:g.157685A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7018A>C MANE Select	ENSP00000262367.5:p.Ser2340Arg
ENST00000262367.9:c.7018A>C	ENSP00000262367.5:p.Ser2340Arg
ENST00000382070.7:c.6904A>C	ENSP00000371502.3:p.Ser2302Arg
NM_001079846.1:c.6904A>C	NP_001073315.1:p.Ser2302Arg
NM_004380.2:c.7018A>C	NP_004371.2:p.Ser2340Arg
XM_005255124.3:c.6973A>C	XP_005255181.1:p.Ser2325Arg
XM_005255125.3:c.6601A>C	XP_005255182.1:p.Ser2201Arg
XM_006720848.2:c.6757A>C	XP_006720911.1:p.Ser2253Arg
XM_011522380.1:c.6964A>C	XP_011520682.1:p.Ser2322Arg
XM_011522381.1:c.6265A>C	XP_011520683.1:p.Ser2089Arg
XM_005255124.4:c.6973A>C	XP_005255181.1:p.Ser2325Arg
XM_005255125.4:c.6601A>C	XP_005255182.1:p.Ser2201Arg
XM_006720848.3:c.6757A>C	XP_006720911.1:p.Ser2253Arg
XM_011522381.2:c.6265A>C	XP_011520683.1:p.Ser2089Arg
XM_017022944.1:c.7012A>C	XP_016878433.1:p.Ser2338Arg
NM_004380.3:c.7018A>C MANE Select	NP_004371.2:p.Ser2340Arg