Canonical Allele Identifier: CA394553842

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305301
• MyVariant Identifiers: chr16:g.3778815C>T (hg19) ; chr16:g.3728814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728814C>T , CM000678.2:g.3728814C>T	GRCh38
NC_000016.9:g.3778815C>T , CM000678.1:g.3778815C>T	GRCh37
NC_000016.8:g.3718816C>T	NCBI36
NG_009873.1:g.156307G>A
NG_009873.2:g.156900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6233G>A MANE Select	ENSP00000262367.5:p.Ser2078Asn
ENST00000262367.9:c.6233G>A	ENSP00000262367.5:p.Ser2078Asn
ENST00000382070.7:c.6119G>A	ENSP00000371502.3:p.Ser2040Asn
NM_001079846.1:c.6119G>A	NP_001073315.1:p.Ser2040Asn
NM_004380.2:c.6233G>A	NP_004371.2:p.Ser2078Asn
XM_005255124.3:c.6188G>A	XP_005255181.1:p.Ser2063Asn
XM_005255125.3:c.5816G>A	XP_005255182.1:p.Ser1939Asn
XM_006720848.2:c.5972G>A	XP_006720911.1:p.Ser1991Asn
XM_011522380.1:c.6179G>A	XP_011520682.1:p.Ser2060Asn
XM_011522381.1:c.5480G>A	XP_011520683.1:p.Ser1827Asn
XM_005255124.4:c.6188G>A	XP_005255181.1:p.Ser2063Asn
XM_005255125.4:c.5816G>A	XP_005255182.1:p.Ser1939Asn
XM_006720848.3:c.5972G>A	XP_006720911.1:p.Ser1991Asn
XM_011522381.2:c.5480G>A	XP_011520683.1:p.Ser1827Asn
XM_017022944.1:c.6227G>A	XP_016878433.1:p.Ser2076Asn
NM_004380.3:c.6233G>A MANE Select	NP_004371.2:p.Ser2078Asn