Canonical Allele Identifier: CA394557040

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1098414
• ClinVar RCV Id: RCV001420341
• dbSNP Id: rs2151311363
• MyVariant Identifiers: chr16:g.3779681G>C (hg19) ; chr16:g.3729680G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729680G>C , CM000678.2:g.3729680G>C	GRCh38
NC_000016.9:g.3779681G>C , CM000678.1:g.3779681G>C	GRCh37
NC_000016.8:g.3719682G>C	NCBI36
NG_009873.1:g.155441C>G
NG_009873.2:g.156034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5367C>G MANE Select	ENSP00000262367.5:p.Asn1789Lys
ENST00000262367.9:c.5367C>G	ENSP00000262367.5:p.Asn1789Lys
ENST00000382070.7:c.5253C>G	ENSP00000371502.3:p.Asn1751Lys
NM_001079846.1:c.5253C>G	NP_001073315.1:p.Asn1751Lys
NM_004380.2:c.5367C>G	NP_004371.2:p.Asn1789Lys
XM_005255124.3:c.5322C>G	XP_005255181.1:p.Asn1774Lys
XM_005255125.3:c.4950C>G	XP_005255182.1:p.Asn1650Lys
XM_006720848.2:c.5106C>G	XP_006720911.1:p.Asn1702Lys
XM_011522380.1:c.5313C>G	XP_011520682.1:p.Asn1771Lys
XM_011522381.1:c.4614C>G	XP_011520683.1:p.Asn1538Lys
XM_005255124.4:c.5322C>G	XP_005255181.1:p.Asn1774Lys
XM_005255125.4:c.4950C>G	XP_005255182.1:p.Asn1650Lys
XM_006720848.3:c.5106C>G	XP_006720911.1:p.Asn1702Lys
XM_011522381.2:c.4614C>G	XP_011520683.1:p.Asn1538Lys
XM_017022944.1:c.5361C>G	XP_016878433.1:p.Asn1787Lys
NM_004380.3:c.5367C>G MANE Select	NP_004371.2:p.Asn1789Lys