Canonical Allele Identifier: CA394560500

Gene: CREBBP

Linked Data

• dbSNP Id: rs1487159105
• gnomAD v2: 16-3841996-T-C
• gnomAD v4: 16-3791995-T-C
• MyVariant Identifiers: chr16:g.3841996T>C (hg19) ; chr16:g.3791995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791995T>C , CM000678.2:g.3791995T>C	GRCh38
NC_000016.9:g.3841996T>C , CM000678.1:g.3841996T>C	GRCh37
NC_000016.8:g.3781997T>C	NCBI36
NG_009873.1:g.93126A>G
NG_009873.2:g.93719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1316A>G MANE Select	ENSP00000262367.5:p.Lys439Arg
ENST00000262367.9:c.1316A>G	ENSP00000262367.5:p.Lys439Arg
ENST00000382070.7:c.1216+1391A>G	ENSP00000371502.3:n.1216+1391A>G
NM_001079846.1:c.1216+1391A>G	NP_001073315.1:n.1216+1391A>G
NM_004380.2:c.1316A>G	NP_004371.2:p.Lys439Arg
XM_005255124.3:c.1316A>G	XP_005255181.1:p.Lys439Arg
XM_005255125.3:c.1316A>G	XP_005255182.1:p.Lys439Arg
XM_006720848.2:c.1316A>G	XP_006720911.1:p.Lys439Arg
XM_011522380.1:c.1262A>G	XP_011520682.1:p.Lys421Arg
XM_011522381.1:c.563A>G	XP_011520683.1:p.Lys188Arg
XM_011522382.1:c.1316A>G	XP_011520684.1:p.Lys439Arg
XM_005255124.4:c.1316A>G	XP_005255181.1:p.Lys439Arg
XM_005255125.4:c.1316A>G	XP_005255182.1:p.Lys439Arg
XM_006720848.3:c.1316A>G	XP_006720911.1:p.Lys439Arg
XM_011522381.2:c.563A>G	XP_011520683.1:p.Lys188Arg
XM_011522382.3:c.1316A>G	XP_011520684.1:p.Lys439Arg
XM_017022944.1:c.1316A>G	XP_016878433.1:p.Lys439Arg
NM_004380.3:c.1316A>G MANE Select	NP_004371.2:p.Lys439Arg