Canonical Allele Identifier: CA7870367

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3780820T>C , CM000678.2:g.3780820T>C	GRCh38
NC_000016.9:g.3830821T>C , CM000678.1:g.3830821T>C	GRCh37
NC_000016.8:g.3770822T>C	NCBI36
NG_009873.1:g.104301A>G
NG_009873.2:g.104894A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.1735A>G MANE Select	NP_004371.2:p.Thr579Ala
ENST00000262367.10:c.1735A>G MANE Select	ENSP00000262367.5:p.Thr579Ala
NM_001079846.1:c.1621A>G	NP_001073315.1:p.Thr541Ala
NM_004380.2:c.1735A>G	NP_004371.2:p.Thr579Ala
ENST00000262367.9:c.1735A>G	ENSP00000262367.5:p.Thr579Ala
ENST00000382070.7:c.1621A>G	ENSP00000371502.3:p.Thr541Ala
ENST00000570939.2:c.340A>G	ENSP00000461002.2:p.Thr114Ala
ENST00000572134.1:c.48A>G
XM_005255124.3:c.1735A>G	XP_005255181.1:p.Thr579Ala
XM_005255124.4:c.1735A>G	XP_005255181.1:p.Thr579Ala
XM_005255125.3:c.1735A>G	XP_005255182.1:p.Thr579Ala
XM_005255125.4:c.1735A>G	XP_005255182.1:p.Thr579Ala
XM_006720848.2:c.1735A>G	XP_006720911.1:p.Thr579Ala
XM_006720848.3:c.1735A>G	XP_006720911.1:p.Thr579Ala
XM_011522380.1:c.1681A>G	XP_011520682.1:p.Thr561Ala
XM_011522381.1:c.982A>G	XP_011520683.1:p.Thr328Ala
XM_011522381.2:c.982A>G	XP_011520683.1:p.Thr328Ala
XM_011522382.1:c.1735A>G	XP_011520684.1:p.Thr579Ala
XM_011522382.3:c.1735A>G	XP_011520684.1:p.Thr579Ala
XM_017022944.1:c.1735A>G	XP_016878433.1:p.Thr579Ala