Canonical Allele Identifier: CA394550826

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299846
• COSMIC: COSM6016024
• MyVariant Identifiers: chr16:g.3778035G>C (hg19) ; chr16:g.3728034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728034G>C , CM000678.2:g.3728034G>C	GRCh38
NC_000016.9:g.3778035G>C , CM000678.1:g.3778035G>C	GRCh37
NC_000016.8:g.3718036G>C	NCBI36
NG_009873.1:g.157087C>G
NG_009873.2:g.157680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7013C>G MANE Select	ENSP00000262367.5:p.Ser2338Cys
ENST00000262367.9:c.7013C>G	ENSP00000262367.5:p.Ser2338Cys
ENST00000382070.7:c.6899C>G	ENSP00000371502.3:p.Ser2300Cys
NM_001079846.1:c.6899C>G	NP_001073315.1:p.Ser2300Cys
NM_004380.2:c.7013C>G	NP_004371.2:p.Ser2338Cys
XM_005255124.3:c.6968C>G	XP_005255181.1:p.Ser2323Cys
XM_005255125.3:c.6596C>G	XP_005255182.1:p.Ser2199Cys
XM_006720848.2:c.6752C>G	XP_006720911.1:p.Ser2251Cys
XM_011522380.1:c.6959C>G	XP_011520682.1:p.Ser2320Cys
XM_011522381.1:c.6260C>G	XP_011520683.1:p.Ser2087Cys
XM_005255124.4:c.6968C>G	XP_005255181.1:p.Ser2323Cys
XM_005255125.4:c.6596C>G	XP_005255182.1:p.Ser2199Cys
XM_006720848.3:c.6752C>G	XP_006720911.1:p.Ser2251Cys
XM_011522381.2:c.6260C>G	XP_011520683.1:p.Ser2087Cys
XM_017022944.1:c.7007C>G	XP_016878433.1:p.Ser2336Cys
NM_004380.3:c.7013C>G MANE Select	NP_004371.2:p.Ser2338Cys