Canonical Allele Identifier: CA394553751

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728775-T-C
• MyVariant Identifiers: chr16:g.3778776T>C (hg19) ; chr16:g.3728775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728775T>C , CM000678.2:g.3728775T>C	GRCh38
NC_000016.9:g.3778776T>C , CM000678.1:g.3778776T>C	GRCh37
NC_000016.8:g.3718777T>C	NCBI36
NG_009873.1:g.156346A>G
NG_009873.2:g.156939A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6272A>G MANE Select	ENSP00000262367.5:p.Lys2091Arg
ENST00000262367.9:c.6272A>G	ENSP00000262367.5:p.Lys2091Arg
ENST00000382070.7:c.6158A>G	ENSP00000371502.3:p.Lys2053Arg
NM_001079846.1:c.6158A>G	NP_001073315.1:p.Lys2053Arg
NM_004380.2:c.6272A>G	NP_004371.2:p.Lys2091Arg
XM_005255124.3:c.6227A>G	XP_005255181.1:p.Lys2076Arg
XM_005255125.3:c.5855A>G	XP_005255182.1:p.Lys1952Arg
XM_006720848.2:c.6011A>G	XP_006720911.1:p.Lys2004Arg
XM_011522380.1:c.6218A>G	XP_011520682.1:p.Lys2073Arg
XM_011522381.1:c.5519A>G	XP_011520683.1:p.Lys1840Arg
XM_005255124.4:c.6227A>G	XP_005255181.1:p.Lys2076Arg
XM_005255125.4:c.5855A>G	XP_005255182.1:p.Lys1952Arg
XM_006720848.3:c.6011A>G	XP_006720911.1:p.Lys2004Arg
XM_011522381.2:c.5519A>G	XP_011520683.1:p.Lys1840Arg
XM_017022944.1:c.6266A>G	XP_016878433.1:p.Lys2089Arg
NM_004380.3:c.6272A>G MANE Select	NP_004371.2:p.Lys2091Arg