Canonical Allele Identifier: CA394554582

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306686
• gnomAD v4: 16-3729029-G-T
• MyVariant Identifiers: chr16:g.3779030G>T (hg19) ; chr16:g.3729029G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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