Canonical Allele Identifier: CA493394873

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596887011
• MyVariant Identifiers: chr16:g.3820877A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770876A>T , CM000678.2:g.3770876A>T	GRCh38
NC_000016.9:g.3820877A>T , CM000678.1:g.3820877A>T	GRCh37
NC_000016.8:g.3760878A>T	NCBI36
NG_009873.1:g.114245T>A
NG_009873.2:g.114838T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2574T>A MANE Select	ENSP00000262367.5:p.Pro858=
ENST00000262367.9:c.2574T>A	ENSP00000262367.5:p.Pro858=
ENST00000382070.7:c.2460T>A	ENSP00000371502.3:p.Pro820=
ENST00000570939.2:c.1179T>A	ENSP00000461002.2:p.Pro393=
NM_001079846.1:c.2460T>A	NP_001073315.1:p.Pro820=
NM_004380.2:c.2574T>A	NP_004371.2:p.Pro858=
XM_005255124.3:c.2529T>A	XP_005255181.1:p.Pro843=
XM_005255125.3:c.2464-1523T>A	XP_005255182.1:n.2464-1523T>A
XM_006720848.2:c.2574T>A	XP_006720911.1:p.Pro858=
XM_011522380.1:c.2520T>A	XP_011520682.1:p.Pro840=
XM_011522381.1:c.1821T>A	XP_011520683.1:p.Pro607=
XM_011522382.1:c.2574T>A	XP_011520684.1:p.Pro858=
XM_005255124.4:c.2529T>A	XP_005255181.1:p.Pro843=
XM_005255125.4:c.2464-1523T>A	XP_005255182.1:n.2464-1523T>A
XM_006720848.3:c.2574T>A	XP_006720911.1:p.Pro858=
XM_011522381.2:c.1821T>A	XP_011520683.1:p.Pro607=
XM_011522382.3:c.2574T>A	XP_011520684.1:p.Pro858=
XM_017022944.1:c.2568T>A	XP_016878433.1:p.Pro856=
NM_004380.3:c.2574T>A MANE Select	NP_004371.2:p.Pro858=