Canonical Allele Identifier: CA16620199

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5366A>C MANE Select	ENSP00000262367.5:p.Asn1789Thr
ENST00000262367.9:c.5366A>C	ENSP00000262367.5:p.Asn1789Thr
ENST00000382070.7:c.5252A>C	ENSP00000371502.3:p.Asn1751Thr
NM_001079846.1:c.5252A>C	NP_001073315.1:p.Asn1751Thr
NM_004380.2:c.5366A>C	NP_004371.2:p.Asn1789Thr
XM_005255124.3:c.5321A>C	XP_005255181.1:p.Asn1774Thr
XM_005255125.3:c.4949A>C	XP_005255182.1:p.Asn1650Thr
XM_006720848.2:c.5105A>C	XP_006720911.1:p.Asn1702Thr
XM_011522380.1:c.5312A>C	XP_011520682.1:p.Asn1771Thr
XM_011522381.1:c.4613A>C	XP_011520683.1:p.Asn1538Thr
XM_005255124.4:c.5321A>C	XP_005255181.1:p.Asn1774Thr
XM_005255125.4:c.4949A>C	XP_005255182.1:p.Asn1650Thr
XM_006720848.3:c.5105A>C	XP_006720911.1:p.Asn1702Thr
XM_011522381.2:c.4613A>C	XP_011520683.1:p.Asn1538Thr
XM_017022944.1:c.5360A>C	XP_016878433.1:p.Asn1787Thr
NM_004380.3:c.5366A>C MANE Select	NP_004371.2:p.Asn1789Thr