Canonical Allele Identifier: CA271427

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731314A>G , CM000678.2:g.3731314A>G	GRCh38
NC_000016.9:g.3781315A>G , CM000678.1:g.3781315A>G	GRCh37
NC_000016.8:g.3721316A>G	NCBI36
NG_009873.1:g.153807T>C
NG_009873.2:g.154400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5050T>C MANE Select	ENSP00000262367.5:p.Ser1684Pro
ENST00000262367.9:c.5050T>C	ENSP00000262367.5:p.Ser1684Pro
ENST00000382070.7:c.4936T>C	ENSP00000371502.3:p.Ser1646Pro
NM_001079846.1:c.4936T>C	NP_001073315.1:p.Ser1646Pro
NM_004380.2:c.5050T>C	NP_004371.2:p.Ser1684Pro
XM_005255124.3:c.5005T>C	XP_005255181.1:p.Ser1669Pro
XM_005255125.3:c.4633T>C	XP_005255182.1:p.Ser1545Pro
XM_006720848.2:c.4789T>C	XP_006720911.1:p.Ser1597Pro
XM_011522380.1:c.4996T>C	XP_011520682.1:p.Ser1666Pro
XM_011522381.1:c.4297T>C	XP_011520683.1:p.Ser1433Pro
XM_005255124.4:c.5005T>C	XP_005255181.1:p.Ser1669Pro
XM_005255125.4:c.4633T>C	XP_005255182.1:p.Ser1545Pro
XM_006720848.3:c.4789T>C	XP_006720911.1:p.Ser1597Pro
XM_011522381.2:c.4297T>C	XP_011520683.1:p.Ser1433Pro
XM_017022944.1:c.5044T>C	XP_016878433.1:p.Ser1682Pro
NM_004380.3:c.5050T>C MANE Select	NP_004371.2:p.Ser1684Pro