Canonical Allele Identifier: CA394563616

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329514
• MyVariant Identifiers: chr16:g.3786713G>T (hg19) ; chr16:g.3736712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736712G>T , CM000678.2:g.3736712G>T	GRCh38
NC_000016.9:g.3786713G>T , CM000678.1:g.3786713G>T	GRCh37
NC_000016.8:g.3726714G>T	NCBI36
NG_009873.1:g.148409C>A
NG_009873.2:g.149002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4498C>A MANE Select	ENSP00000262367.5:p.Gln1500Lys
ENST00000262367.9:c.4498C>A	ENSP00000262367.5:p.Gln1500Lys
ENST00000382070.7:c.4384C>A	ENSP00000371502.3:p.Gln1462Lys
ENST00000570939.2:c.3133C>A	ENSP00000461002.2:p.Gln1045Lys
ENST00000571763.5:n.288C>A
ENST00000574740.1:n.319C>A
ENST00000576720.1:n.3321C>A
NM_001079846.1:c.4384C>A	NP_001073315.1:p.Gln1462Lys
NM_004380.2:c.4498C>A	NP_004371.2:p.Gln1500Lys
XM_005255124.3:c.4453C>A	XP_005255181.1:p.Gln1485Lys
XM_005255125.3:c.4081C>A	XP_005255182.1:p.Gln1361Lys
XM_006720848.2:c.4237C>A	XP_006720911.1:p.Gln1413Lys
XM_011522380.1:c.4444C>A	XP_011520682.1:p.Gln1482Lys
XM_011522381.1:c.3745C>A	XP_011520683.1:p.Gln1249Lys
XM_005255124.4:c.4453C>A	XP_005255181.1:p.Gln1485Lys
XM_005255125.4:c.4081C>A	XP_005255182.1:p.Gln1361Lys
XM_006720848.3:c.4237C>A	XP_006720911.1:p.Gln1413Lys
XM_011522381.2:c.3745C>A	XP_011520683.1:p.Gln1249Lys
XM_017022944.1:c.4492C>A	XP_016878433.1:p.Gln1498Lys
NM_004380.3:c.4498C>A MANE Select	NP_004371.2:p.Gln1500Lys