Canonical Allele Identifier: CA394563900

Gene: CREBBP

Linked Data

• dbSNP Id: rs201719835
• COSMIC: COSM4170756
• MyVariant Identifiers: chr16:g.3786763A>T (hg19) ; chr16:g.3736762A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736762A>T , CM000678.2:g.3736762A>T	GRCh38
NC_000016.9:g.3786763A>T , CM000678.1:g.3786763A>T	GRCh37
NC_000016.8:g.3726764A>T	NCBI36
NG_009873.1:g.148359T>A
NG_009873.2:g.148952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4448T>A MANE Select	ENSP00000262367.5:p.Ile1483Asn
ENST00000262367.9:c.4448T>A	ENSP00000262367.5:p.Ile1483Asn
ENST00000382070.7:c.4334T>A	ENSP00000371502.3:p.Ile1445Asn
ENST00000570939.2:c.3083T>A	ENSP00000461002.2:p.Ile1028Asn
ENST00000571763.5:n.238T>A
ENST00000574740.1:n.269T>A
ENST00000576720.1:n.3271T>A
NM_001079846.1:c.4334T>A	NP_001073315.1:p.Ile1445Asn
NM_004380.2:c.4448T>A	NP_004371.2:p.Ile1483Asn
XM_005255124.3:c.4403T>A	XP_005255181.1:p.Ile1468Asn
XM_005255125.3:c.4031T>A	XP_005255182.1:p.Ile1344Asn
XM_006720848.2:c.4187T>A	XP_006720911.1:p.Ile1396Asn
XM_011522380.1:c.4394T>A	XP_011520682.1:p.Ile1465Asn
XM_011522381.1:c.3695T>A	XP_011520683.1:p.Ile1232Asn
XM_005255124.4:c.4403T>A	XP_005255181.1:p.Ile1468Asn
XM_005255125.4:c.4031T>A	XP_005255182.1:p.Ile1344Asn
XM_006720848.3:c.4187T>A	XP_006720911.1:p.Ile1396Asn
XM_011522381.2:c.3695T>A	XP_011520683.1:p.Ile1232Asn
XM_017022944.1:c.4442T>A	XP_016878433.1:p.Ile1481Asn
NM_004380.3:c.4448T>A MANE Select	NP_004371.2:p.Ile1483Asn