Canonical Allele Identifier: CA394556064

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2733791
• ClinVar RCV Id: RCV003595575
• dbSNP Id: rs2151310058
• MyVariant Identifiers: chr16:g.3779508T>C (hg19) ; chr16:g.3729507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729507T>C , CM000678.2:g.3729507T>C	GRCh38
NC_000016.9:g.3779508T>C , CM000678.1:g.3779508T>C	GRCh37
NC_000016.8:g.3719509T>C	NCBI36
NG_009873.1:g.155614A>G
NG_009873.2:g.156207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5540A>G MANE Select	ENSP00000262367.5:p.Lys1847Arg
ENST00000262367.9:c.5540A>G	ENSP00000262367.5:p.Lys1847Arg
ENST00000382070.7:c.5426A>G	ENSP00000371502.3:p.Lys1809Arg
NM_001079846.1:c.5426A>G	NP_001073315.1:p.Lys1809Arg
NM_004380.2:c.5540A>G	NP_004371.2:p.Lys1847Arg
XM_005255124.3:c.5495A>G	XP_005255181.1:p.Lys1832Arg
XM_005255125.3:c.5123A>G	XP_005255182.1:p.Lys1708Arg
XM_006720848.2:c.5279A>G	XP_006720911.1:p.Lys1760Arg
XM_011522380.1:c.5486A>G	XP_011520682.1:p.Lys1829Arg
XM_011522381.1:c.4787A>G	XP_011520683.1:p.Lys1596Arg
XM_005255124.4:c.5495A>G	XP_005255181.1:p.Lys1832Arg
XM_005255125.4:c.5123A>G	XP_005255182.1:p.Lys1708Arg
XM_006720848.3:c.5279A>G	XP_006720911.1:p.Lys1760Arg
XM_011522381.2:c.4787A>G	XP_011520683.1:p.Lys1596Arg
XM_017022944.1:c.5534A>G	XP_016878433.1:p.Lys1845Arg
NM_004380.3:c.5540A>G MANE Select	NP_004371.2:p.Lys1847Arg