Canonical Allele Identifier: CA394554901

Gene: CREBBP

Linked Data

• dbSNP Id: rs928116392
• gnomAD v4: 16-3729107-G-C
• MyVariant Identifiers: chr16:g.3779108G>C (hg19) ; chr16:g.3729107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729107G>C , CM000678.2:g.3729107G>C	GRCh38
NC_000016.9:g.3779108G>C , CM000678.1:g.3779108G>C	GRCh37
NC_000016.8:g.3719109G>C	NCBI36
NG_009873.1:g.156014C>G
NG_009873.2:g.156607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5940C>G MANE Select	ENSP00000262367.5:p.Ser1980Arg
ENST00000262367.9:c.5940C>G	ENSP00000262367.5:p.Ser1980Arg
ENST00000382070.7:c.5826C>G	ENSP00000371502.3:p.Ser1942Arg
NM_001079846.1:c.5826C>G	NP_001073315.1:p.Ser1942Arg
NM_004380.2:c.5940C>G	NP_004371.2:p.Ser1980Arg
XM_005255124.3:c.5895C>G	XP_005255181.1:p.Ser1965Arg
XM_005255125.3:c.5523C>G	XP_005255182.1:p.Ser1841Arg
XM_006720848.2:c.5679C>G	XP_006720911.1:p.Ser1893Arg
XM_011522380.1:c.5886C>G	XP_011520682.1:p.Ser1962Arg
XM_011522381.1:c.5187C>G	XP_011520683.1:p.Ser1729Arg
XM_005255124.4:c.5895C>G	XP_005255181.1:p.Ser1965Arg
XM_005255125.4:c.5523C>G	XP_005255182.1:p.Ser1841Arg
XM_006720848.3:c.5679C>G	XP_006720911.1:p.Ser1893Arg
XM_011522381.2:c.5187C>G	XP_011520683.1:p.Ser1729Arg
XM_017022944.1:c.5934C>G	XP_016878433.1:p.Ser1978Arg
NM_004380.3:c.5940C>G MANE Select	NP_004371.2:p.Ser1980Arg