Canonical Allele Identifier: CA493395110

Gene: CREBBP

Linked Data

• dbSNP Id: rs759697462
• MyVariant Identifiers: chr16:g.3820859A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770858A>T , CM000678.2:g.3770858A>T	GRCh38
NC_000016.9:g.3820859A>T , CM000678.1:g.3820859A>T	GRCh37
NC_000016.8:g.3760860A>T	NCBI36
NG_009873.1:g.114263T>A
NG_009873.2:g.114856T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2592T>A MANE Select	ENSP00000262367.5:p.Ala864=
ENST00000262367.9:c.2592T>A	ENSP00000262367.5:p.Ala864=
ENST00000382070.7:c.2478T>A	ENSP00000371502.3:p.Ala826=
ENST00000570939.2:c.1197T>A	ENSP00000461002.2:p.Ala399=
NM_001079846.1:c.2478T>A	NP_001073315.1:p.Ala826=
NM_004380.2:c.2592T>A	NP_004371.2:p.Ala864=
XM_005255124.3:c.2547T>A	XP_005255181.1:p.Ala849=
XM_005255125.3:c.2464-1505T>A	XP_005255182.1:n.2464-1505T>A
XM_006720848.2:c.2592T>A	XP_006720911.1:p.Ala864=
XM_011522380.1:c.2538T>A	XP_011520682.1:p.Ala846=
XM_011522381.1:c.1839T>A	XP_011520683.1:p.Ala613=
XM_011522382.1:c.2592T>A	XP_011520684.1:p.Ala864=
XM_005255124.4:c.2547T>A	XP_005255181.1:p.Ala849=
XM_005255125.4:c.2464-1505T>A	XP_005255182.1:n.2464-1505T>A
XM_006720848.3:c.2592T>A	XP_006720911.1:p.Ala864=
XM_011522381.2:c.1839T>A	XP_011520683.1:p.Ala613=
XM_011522382.3:c.2592T>A	XP_011520684.1:p.Ala864=
XM_017022944.1:c.2586T>A	XP_016878433.1:p.Ala862=
NM_004380.3:c.2592T>A MANE Select	NP_004371.2:p.Ala864=