Canonical Allele Identifier: CA493394137

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311254
• MyVariant Identifiers: chr16:g.3779666G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729665G>T , CM000678.2:g.3729665G>T	GRCh38
NC_000016.9:g.3779666G>T , CM000678.1:g.3779666G>T	GRCh37
NC_000016.8:g.3719667G>T	NCBI36
NG_009873.1:g.155456C>A
NG_009873.2:g.156049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5382C>A MANE Select	ENSP00000262367.5:p.Ser1794=
ENST00000262367.9:c.5382C>A	ENSP00000262367.5:p.Ser1794=
ENST00000382070.7:c.5268C>A	ENSP00000371502.3:p.Ser1756=
NM_001079846.1:c.5268C>A	NP_001073315.1:p.Ser1756=
NM_004380.2:c.5382C>A	NP_004371.2:p.Ser1794=
XM_005255124.3:c.5337C>A	XP_005255181.1:p.Ser1779=
XM_005255125.3:c.4965C>A	XP_005255182.1:p.Ser1655=
XM_006720848.2:c.5121C>A	XP_006720911.1:p.Ser1707=
XM_011522380.1:c.5328C>A	XP_011520682.1:p.Ser1776=
XM_011522381.1:c.4629C>A	XP_011520683.1:p.Ser1543=
XM_005255124.4:c.5337C>A	XP_005255181.1:p.Ser1779=
XM_005255125.4:c.4965C>A	XP_005255182.1:p.Ser1655=
XM_006720848.3:c.5121C>A	XP_006720911.1:p.Ser1707=
XM_011522381.2:c.4629C>A	XP_011520683.1:p.Ser1543=
XM_017022944.1:c.5376C>A	XP_016878433.1:p.Ser1792=
NM_004380.3:c.5382C>A MANE Select	NP_004371.2:p.Ser1794=