Canonical Allele Identifier: CA394557011

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311259
• MyVariant Identifiers: chr16:g.3779667G>C (hg19) ; chr16:g.3729666G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729666G>C , CM000678.2:g.3729666G>C	GRCh38
NC_000016.9:g.3779667G>C , CM000678.1:g.3779667G>C	GRCh37
NC_000016.8:g.3719668G>C	NCBI36
NG_009873.1:g.155455C>G
NG_009873.2:g.156048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5381C>G MANE Select	ENSP00000262367.5:p.Ser1794Cys
ENST00000262367.9:c.5381C>G	ENSP00000262367.5:p.Ser1794Cys
ENST00000382070.7:c.5267C>G	ENSP00000371502.3:p.Ser1756Cys
NM_001079846.1:c.5267C>G	NP_001073315.1:p.Ser1756Cys
NM_004380.2:c.5381C>G	NP_004371.2:p.Ser1794Cys
XM_005255124.3:c.5336C>G	XP_005255181.1:p.Ser1779Cys
XM_005255125.3:c.4964C>G	XP_005255182.1:p.Ser1655Cys
XM_006720848.2:c.5120C>G	XP_006720911.1:p.Ser1707Cys
XM_011522380.1:c.5327C>G	XP_011520682.1:p.Ser1776Cys
XM_011522381.1:c.4628C>G	XP_011520683.1:p.Ser1543Cys
XM_005255124.4:c.5336C>G	XP_005255181.1:p.Ser1779Cys
XM_005255125.4:c.4964C>G	XP_005255182.1:p.Ser1655Cys
XM_006720848.3:c.5120C>G	XP_006720911.1:p.Ser1707Cys
XM_011522381.2:c.4628C>G	XP_011520683.1:p.Ser1543Cys
XM_017022944.1:c.5375C>G	XP_016878433.1:p.Ser1792Cys
NM_004380.3:c.5381C>G MANE Select	NP_004371.2:p.Ser1794Cys