Canonical Allele Identifier: CA394564688

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3789583T>C (hg19) ; chr16:g.3739582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739582T>C , CM000678.2:g.3739582T>C	GRCh38
NC_000016.9:g.3789583T>C , CM000678.1:g.3789583T>C	GRCh37
NC_000016.8:g.3729584T>C	NCBI36
NG_009873.1:g.145539A>G
NG_009873.2:g.146132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4276A>G MANE Select	ENSP00000262367.5:p.Thr1426Ala
ENST00000262367.9:c.4276A>G	ENSP00000262367.5:p.Thr1426Ala
ENST00000382070.7:c.4162A>G	ENSP00000371502.3:p.Thr1388Ala
ENST00000570939.2:c.2911A>G	ENSP00000461002.2:p.Thr971Ala
ENST00000573517.6:c.582A>G
ENST00000574740.1:n.215+817A>G
ENST00000576720.1:n.3213A>G
NM_001079846.1:c.4162A>G	NP_001073315.1:p.Thr1388Ala
NM_004380.2:c.4276A>G	NP_004371.2:p.Thr1426Ala
XM_005255124.3:c.4231A>G	XP_005255181.1:p.Thr1411Ala
XM_005255125.3:c.3859A>G	XP_005255182.1:p.Thr1287Ala
XM_006720848.2:c.4133+817A>G	XP_006720911.1:n.4133+817A>G
XM_011522380.1:c.4222A>G	XP_011520682.1:p.Thr1408Ala
XM_011522381.1:c.3523A>G	XP_011520683.1:p.Thr1175Ala
XM_005255124.4:c.4231A>G	XP_005255181.1:p.Thr1411Ala
XM_005255125.4:c.3859A>G	XP_005255182.1:p.Thr1287Ala
XM_006720848.3:c.4133+817A>G	XP_006720911.1:n.4133+817A>G
XM_011522381.2:c.3523A>G	XP_011520683.1:p.Thr1175Ala
XM_017022944.1:c.4270A>G	XP_016878433.1:p.Thr1424Ala
NM_004380.3:c.4276A>G MANE Select	NP_004371.2:p.Thr1426Ala