Canonical Allele Identifier: CA394554581

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306686
• MyVariant Identifiers: chr16:g.3779030G>C (hg19) ; chr16:g.3729029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729029G>C , CM000678.2:g.3729029G>C	GRCh38
NC_000016.9:g.3779030G>C , CM000678.1:g.3779030G>C	GRCh37
NC_000016.8:g.3719031G>C	NCBI36
NG_009873.1:g.156092C>G
NG_009873.2:g.156685C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6018C>G MANE Select	ENSP00000262367.5:p.Asn2006Lys
ENST00000262367.9:c.6018C>G	ENSP00000262367.5:p.Asn2006Lys
ENST00000382070.7:c.5904C>G	ENSP00000371502.3:p.Asn1968Lys
NM_001079846.1:c.5904C>G	NP_001073315.1:p.Asn1968Lys
NM_004380.2:c.6018C>G	NP_004371.2:p.Asn2006Lys
XM_005255124.3:c.5973C>G	XP_005255181.1:p.Asn1991Lys
XM_005255125.3:c.5601C>G	XP_005255182.1:p.Asn1867Lys
XM_006720848.2:c.5757C>G	XP_006720911.1:p.Asn1919Lys
XM_011522380.1:c.5964C>G	XP_011520682.1:p.Asn1988Lys
XM_011522381.1:c.5265C>G	XP_011520683.1:p.Asn1755Lys
XM_005255124.4:c.5973C>G	XP_005255181.1:p.Asn1991Lys
XM_005255125.4:c.5601C>G	XP_005255182.1:p.Asn1867Lys
XM_006720848.3:c.5757C>G	XP_006720911.1:p.Asn1919Lys
XM_011522381.2:c.5265C>G	XP_011520683.1:p.Asn1755Lys
XM_017022944.1:c.6012C>G	XP_016878433.1:p.Asn2004Lys
NM_004380.3:c.6018C>G MANE Select	NP_004371.2:p.Asn2006Lys