Canonical Allele Identifier: CA394556448

Gene: CREBBP

Linked Data

• dbSNP Id: rs1488569881
• MyVariant Identifiers: chr16:g.3779622T>C (hg19) ; chr16:g.3729621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729621T>C , CM000678.2:g.3729621T>C	GRCh38
NC_000016.9:g.3779622T>C , CM000678.1:g.3779622T>C	GRCh37
NC_000016.8:g.3719623T>C	NCBI36
NG_009873.1:g.155500A>G
NG_009873.2:g.156093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5426A>G MANE Select	ENSP00000262367.5:p.Lys1809Arg
ENST00000262367.9:c.5426A>G	ENSP00000262367.5:p.Lys1809Arg
ENST00000382070.7:c.5312A>G	ENSP00000371502.3:p.Lys1771Arg
NM_001079846.1:c.5312A>G	NP_001073315.1:p.Lys1771Arg
NM_004380.2:c.5426A>G	NP_004371.2:p.Lys1809Arg
XM_005255124.3:c.5381A>G	XP_005255181.1:p.Lys1794Arg
XM_005255125.3:c.5009A>G	XP_005255182.1:p.Lys1670Arg
XM_006720848.2:c.5165A>G	XP_006720911.1:p.Lys1722Arg
XM_011522380.1:c.5372A>G	XP_011520682.1:p.Lys1791Arg
XM_011522381.1:c.4673A>G	XP_011520683.1:p.Lys1558Arg
XM_005255124.4:c.5381A>G	XP_005255181.1:p.Lys1794Arg
XM_005255125.4:c.5009A>G	XP_005255182.1:p.Lys1670Arg
XM_006720848.3:c.5165A>G	XP_006720911.1:p.Lys1722Arg
XM_011522381.2:c.4673A>G	XP_011520683.1:p.Lys1558Arg
XM_017022944.1:c.5420A>G	XP_016878433.1:p.Lys1807Arg
NM_004380.3:c.5426A>G MANE Select	NP_004371.2:p.Lys1809Arg