Canonical Allele Identifier: CA394557032

Gene: CREBBP

Linked Data

• dbSNP Id: rs1401107038
• MyVariant Identifiers: chr16:g.3779678G>C (hg19) ; chr16:g.3729677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729677G>C , CM000678.2:g.3729677G>C	GRCh38
NC_000016.9:g.3779678G>C , CM000678.1:g.3779678G>C	GRCh37
NC_000016.8:g.3719679G>C	NCBI36
NG_009873.1:g.155444C>G
NG_009873.2:g.156037C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5370C>G MANE Select	ENSP00000262367.5:p.Cys1790Trp
ENST00000262367.9:c.5370C>G	ENSP00000262367.5:p.Cys1790Trp
ENST00000382070.7:c.5256C>G	ENSP00000371502.3:p.Cys1752Trp
NM_001079846.1:c.5256C>G	NP_001073315.1:p.Cys1752Trp
NM_004380.2:c.5370C>G	NP_004371.2:p.Cys1790Trp
XM_005255124.3:c.5325C>G	XP_005255181.1:p.Cys1775Trp
XM_005255125.3:c.4953C>G	XP_005255182.1:p.Cys1651Trp
XM_006720848.2:c.5109C>G	XP_006720911.1:p.Cys1703Trp
XM_011522380.1:c.5316C>G	XP_011520682.1:p.Cys1772Trp
XM_011522381.1:c.4617C>G	XP_011520683.1:p.Cys1539Trp
XM_005255124.4:c.5325C>G	XP_005255181.1:p.Cys1775Trp
XM_005255125.4:c.4953C>G	XP_005255182.1:p.Cys1651Trp
XM_006720848.3:c.5109C>G	XP_006720911.1:p.Cys1703Trp
XM_011522381.2:c.4617C>G	XP_011520683.1:p.Cys1539Trp
XM_017022944.1:c.5364C>G	XP_016878433.1:p.Cys1788Trp
NM_004380.3:c.5370C>G MANE Select	NP_004371.2:p.Cys1790Trp