Canonical Allele Identifier: CA394557682

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1309652
• ClinVar RCV Id: RCV001754935
• dbSNP Id: rs2151312522
• MyVariant Identifiers: chr16:g.3779840C>G (hg19) ; chr16:g.3729839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729839C>G , CM000678.2:g.3729839C>G	GRCh38
NC_000016.9:g.3779840C>G , CM000678.1:g.3779840C>G	GRCh37
NC_000016.8:g.3719841C>G	NCBI36
NG_009873.1:g.155282G>C
NG_009873.2:g.155875G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5208G>C MANE Select	ENSP00000262367.5:p.Lys1736Asn
ENST00000262367.9:c.5208G>C	ENSP00000262367.5:p.Lys1736Asn
ENST00000382070.7:c.5094G>C	ENSP00000371502.3:p.Lys1698Asn
NM_001079846.1:c.5094G>C	NP_001073315.1:p.Lys1698Asn
NM_004380.2:c.5208G>C	NP_004371.2:p.Lys1736Asn
XM_005255124.3:c.5163G>C	XP_005255181.1:p.Lys1721Asn
XM_005255125.3:c.4791G>C	XP_005255182.1:p.Lys1597Asn
XM_006720848.2:c.4947G>C	XP_006720911.1:p.Lys1649Asn
XM_011522380.1:c.5154G>C	XP_011520682.1:p.Lys1718Asn
XM_011522381.1:c.4455G>C	XP_011520683.1:p.Lys1485Asn
XM_005255124.4:c.5163G>C	XP_005255181.1:p.Lys1721Asn
XM_005255125.4:c.4791G>C	XP_005255182.1:p.Lys1597Asn
XM_006720848.3:c.4947G>C	XP_006720911.1:p.Lys1649Asn
XM_011522381.2:c.4455G>C	XP_011520683.1:p.Lys1485Asn
XM_017022944.1:c.5202G>C	XP_016878433.1:p.Lys1734Asn
NM_004380.3:c.5208G>C MANE Select	NP_004371.2:p.Lys1736Asn