Canonical Allele Identifier: CA394557043

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729681T>C , CM000678.2:g.3729681T>C	GRCh38
NC_000016.9:g.3779682T>C , CM000678.1:g.3779682T>C	GRCh37
NC_000016.8:g.3719683T>C	NCBI36
NG_009873.1:g.155440A>G
NG_009873.2:g.156033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5366A>G MANE Select	ENSP00000262367.5:p.Asn1789Ser
ENST00000262367.9:c.5366A>G	ENSP00000262367.5:p.Asn1789Ser
ENST00000382070.7:c.5252A>G	ENSP00000371502.3:p.Asn1751Ser
NM_001079846.1:c.5252A>G	NP_001073315.1:p.Asn1751Ser
NM_004380.2:c.5366A>G	NP_004371.2:p.Asn1789Ser
XM_005255124.3:c.5321A>G	XP_005255181.1:p.Asn1774Ser
XM_005255125.3:c.4949A>G	XP_005255182.1:p.Asn1650Ser
XM_006720848.2:c.5105A>G	XP_006720911.1:p.Asn1702Ser
XM_011522380.1:c.5312A>G	XP_011520682.1:p.Asn1771Ser
XM_011522381.1:c.4613A>G	XP_011520683.1:p.Asn1538Ser
XM_005255124.4:c.5321A>G	XP_005255181.1:p.Asn1774Ser
XM_005255125.4:c.4949A>G	XP_005255182.1:p.Asn1650Ser
XM_006720848.3:c.5105A>G	XP_006720911.1:p.Asn1702Ser
XM_011522381.2:c.4613A>G	XP_011520683.1:p.Asn1538Ser
XM_017022944.1:c.5360A>G	XP_016878433.1:p.Asn1787Ser
NM_004380.3:c.5366A>G MANE Select	NP_004371.2:p.Asn1789Ser