Canonical Allele Identifier: CA394550113

Gene: CREBBP

Linked Data

• dbSNP Id: rs367899910
• gnomAD v4: 16-3727746-G-C
• MyVariant Identifiers: chr16:g.3777747G>C (hg19) ; chr16:g.3727746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727746G>C , CM000678.2:g.3727746G>C	GRCh38
NC_000016.9:g.3777747G>C , CM000678.1:g.3777747G>C	GRCh37
NC_000016.8:g.3717748G>C	NCBI36
NG_009873.1:g.157375C>G
NG_009873.2:g.157968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7301C>G MANE Select	ENSP00000262367.5:p.Thr2434Arg
ENST00000262367.9:c.7301C>G	ENSP00000262367.5:p.Thr2434Arg
ENST00000382070.7:c.7187C>G	ENSP00000371502.3:p.Thr2396Arg
NM_001079846.1:c.7187C>G	NP_001073315.1:p.Thr2396Arg
NM_004380.2:c.7301C>G	NP_004371.2:p.Thr2434Arg
XM_005255124.3:c.7256C>G	XP_005255181.1:p.Thr2419Arg
XM_005255125.3:c.6884C>G	XP_005255182.1:p.Thr2295Arg
XM_006720848.2:c.7040C>G	XP_006720911.1:p.Thr2347Arg
XM_011522380.1:c.7247C>G	XP_011520682.1:p.Thr2416Arg
XM_011522381.1:c.6548C>G	XP_011520683.1:p.Thr2183Arg
XM_005255124.4:c.7256C>G	XP_005255181.1:p.Thr2419Arg
XM_005255125.4:c.6884C>G	XP_005255182.1:p.Thr2295Arg
XM_006720848.3:c.7040C>G	XP_006720911.1:p.Thr2347Arg
XM_011522381.2:c.6548C>G	XP_011520683.1:p.Thr2183Arg
XM_017022944.1:c.7295C>G	XP_016878433.1:p.Thr2432Arg
NM_004380.3:c.7301C>G MANE Select	NP_004371.2:p.Thr2434Arg