Canonical Allele Identifier: CA394563654

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052070843
• MyVariant Identifiers: chr16:g.3786721T>C (hg19) ; chr16:g.3736720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736720T>C , CM000678.2:g.3736720T>C	GRCh38
NC_000016.9:g.3786721T>C , CM000678.1:g.3786721T>C	GRCh37
NC_000016.8:g.3726722T>C	NCBI36
NG_009873.1:g.148401A>G
NG_009873.2:g.148994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4490A>G MANE Select	ENSP00000262367.5:p.Lys1497Arg
ENST00000262367.9:c.4490A>G	ENSP00000262367.5:p.Lys1497Arg
ENST00000382070.7:c.4376A>G	ENSP00000371502.3:p.Lys1459Arg
ENST00000570939.2:c.3125A>G	ENSP00000461002.2:p.Lys1042Arg
ENST00000571763.5:n.280A>G
ENST00000574740.1:n.311A>G
ENST00000576720.1:n.3313A>G
NM_001079846.1:c.4376A>G	NP_001073315.1:p.Lys1459Arg
NM_004380.2:c.4490A>G	NP_004371.2:p.Lys1497Arg
XM_005255124.3:c.4445A>G	XP_005255181.1:p.Lys1482Arg
XM_005255125.3:c.4073A>G	XP_005255182.1:p.Lys1358Arg
XM_006720848.2:c.4229A>G	XP_006720911.1:p.Lys1410Arg
XM_011522380.1:c.4436A>G	XP_011520682.1:p.Lys1479Arg
XM_011522381.1:c.3737A>G	XP_011520683.1:p.Lys1246Arg
XM_005255124.4:c.4445A>G	XP_005255181.1:p.Lys1482Arg
XM_005255125.4:c.4073A>G	XP_005255182.1:p.Lys1358Arg
XM_006720848.3:c.4229A>G	XP_006720911.1:p.Lys1410Arg
XM_011522381.2:c.3737A>G	XP_011520683.1:p.Lys1246Arg
XM_017022944.1:c.4484A>G	XP_016878433.1:p.Lys1495Arg
NM_004380.3:c.4490A>G MANE Select	NP_004371.2:p.Lys1497Arg