Canonical Allele Identifier: CA394550784

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1715274
• ClinVar RCV Id: RCV002301107
• MyVariant Identifiers: chr16:g.3778025G>C (hg19) ; chr16:g.3728024G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728024G>C , CM000678.2:g.3728024G>C	GRCh38
NC_000016.9:g.3778025G>C , CM000678.1:g.3778025G>C	GRCh37
NC_000016.8:g.3718026G>C	NCBI36
NG_009873.1:g.157097C>G
NG_009873.2:g.157690C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7023C>G MANE Select	ENSP00000262367.5:p.Asn2341Lys
ENST00000262367.9:c.7023C>G	ENSP00000262367.5:p.Asn2341Lys
ENST00000382070.7:c.6909C>G	ENSP00000371502.3:p.Asn2303Lys
NM_001079846.1:c.6909C>G	NP_001073315.1:p.Asn2303Lys
NM_004380.2:c.7023C>G	NP_004371.2:p.Asn2341Lys
XM_005255124.3:c.6978C>G	XP_005255181.1:p.Asn2326Lys
XM_005255125.3:c.6606C>G	XP_005255182.1:p.Asn2202Lys
XM_006720848.2:c.6762C>G	XP_006720911.1:p.Asn2254Lys
XM_011522380.1:c.6969C>G	XP_011520682.1:p.Asn2323Lys
XM_011522381.1:c.6270C>G	XP_011520683.1:p.Asn2090Lys
XM_005255124.4:c.6978C>G	XP_005255181.1:p.Asn2326Lys
XM_005255125.4:c.6606C>G	XP_005255182.1:p.Asn2202Lys
XM_006720848.3:c.6762C>G	XP_006720911.1:p.Asn2254Lys
XM_011522381.2:c.6270C>G	XP_011520683.1:p.Asn2090Lys
XM_017022944.1:c.7017C>G	XP_016878433.1:p.Asn2339Lys
NM_004380.3:c.7023C>G MANE Select	NP_004371.2:p.Asn2341Lys