Canonical Allele Identifier: CA7869245

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729253T>C , CM000678.2:g.3729253T>C	GRCh38
NC_000016.9:g.3779254T>C , CM000678.1:g.3779254T>C	GRCh37
NC_000016.8:g.3719255T>C	NCBI36
NG_009873.1:g.155868A>G
NG_009873.2:g.156461A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5794A>G MANE Select	NP_004371.2:p.Thr1932Ala
ENST00000262367.10:c.5794A>G MANE Select	ENSP00000262367.5:p.Thr1932Ala
NM_001079846.1:c.5680A>G	NP_001073315.1:p.Thr1894Ala
NM_004380.2:c.5794A>G	NP_004371.2:p.Thr1932Ala
ENST00000262367.9:c.5794A>G	ENSP00000262367.5:p.Thr1932Ala
ENST00000382070.7:c.5680A>G	ENSP00000371502.3:p.Thr1894Ala
XM_005255124.3:c.5749A>G	XP_005255181.1:p.Thr1917Ala
XM_005255124.4:c.5749A>G	XP_005255181.1:p.Thr1917Ala
XM_005255125.3:c.5377A>G	XP_005255182.1:p.Thr1793Ala
XM_005255125.4:c.5377A>G	XP_005255182.1:p.Thr1793Ala
XM_006720848.2:c.5533A>G	XP_006720911.1:p.Thr1845Ala
XM_006720848.3:c.5533A>G	XP_006720911.1:p.Thr1845Ala
XM_011522380.1:c.5740A>G	XP_011520682.1:p.Thr1914Ala
XM_011522381.1:c.5041A>G	XP_011520683.1:p.Thr1681Ala
XM_011522381.2:c.5041A>G	XP_011520683.1:p.Thr1681Ala
XM_017022944.1:c.5788A>G	XP_016878433.1:p.Thr1930Ala