Canonical Allele Identifier: CA394551228

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300515
• gnomAD v4: 16-3728127-G-C
• MyVariant Identifiers: chr16:g.3778128G>C (hg19) ; chr16:g.3728127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728127G>C , CM000678.2:g.3728127G>C	GRCh38
NC_000016.9:g.3778128G>C , CM000678.1:g.3778128G>C	GRCh37
NC_000016.8:g.3718129G>C	NCBI36
NG_009873.1:g.156994C>G
NG_009873.2:g.157587C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6920C>G MANE Select	ENSP00000262367.5:p.Ser2307Cys
ENST00000262367.9:c.6920C>G	ENSP00000262367.5:p.Ser2307Cys
ENST00000382070.7:c.6806C>G	ENSP00000371502.3:p.Ser2269Cys
NM_001079846.1:c.6806C>G	NP_001073315.1:p.Ser2269Cys
NM_004380.2:c.6920C>G	NP_004371.2:p.Ser2307Cys
XM_005255124.3:c.6875C>G	XP_005255181.1:p.Ser2292Cys
XM_005255125.3:c.6503C>G	XP_005255182.1:p.Ser2168Cys
XM_006720848.2:c.6659C>G	XP_006720911.1:p.Ser2220Cys
XM_011522380.1:c.6866C>G	XP_011520682.1:p.Ser2289Cys
XM_011522381.1:c.6167C>G	XP_011520683.1:p.Ser2056Cys
XM_005255124.4:c.6875C>G	XP_005255181.1:p.Ser2292Cys
XM_005255125.4:c.6503C>G	XP_005255182.1:p.Ser2168Cys
XM_006720848.3:c.6659C>G	XP_006720911.1:p.Ser2220Cys
XM_011522381.2:c.6167C>G	XP_011520683.1:p.Ser2056Cys
XM_017022944.1:c.6914C>G	XP_016878433.1:p.Ser2305Cys
NM_004380.3:c.6920C>G MANE Select	NP_004371.2:p.Ser2307Cys