Canonical Allele Identifier: CA493394365

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310719
• MyVariant Identifiers: chr16:g.3779600G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729599G>A , CM000678.2:g.3729599G>A	GRCh38
NC_000016.9:g.3779600G>A , CM000678.1:g.3779600G>A	GRCh37
NC_000016.8:g.3719601G>A	NCBI36
NG_009873.1:g.155522C>T
NG_009873.2:g.156115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5448C>T MANE Select	ENSP00000262367.5:p.Cys1816=
ENST00000262367.9:c.5448C>T	ENSP00000262367.5:p.Cys1816=
ENST00000382070.7:c.5334C>T	ENSP00000371502.3:p.Cys1778=
NM_001079846.1:c.5334C>T	NP_001073315.1:p.Cys1778=
NM_004380.2:c.5448C>T	NP_004371.2:p.Cys1816=
XM_005255124.3:c.5403C>T	XP_005255181.1:p.Cys1801=
XM_005255125.3:c.5031C>T	XP_005255182.1:p.Cys1677=
XM_006720848.2:c.5187C>T	XP_006720911.1:p.Cys1729=
XM_011522380.1:c.5394C>T	XP_011520682.1:p.Cys1798=
XM_011522381.1:c.4695C>T	XP_011520683.1:p.Cys1565=
XM_005255124.4:c.5403C>T	XP_005255181.1:p.Cys1801=
XM_005255125.4:c.5031C>T	XP_005255182.1:p.Cys1677=
XM_006720848.3:c.5187C>T	XP_006720911.1:p.Cys1729=
XM_011522381.2:c.4695C>T	XP_011520683.1:p.Cys1565=
XM_017022944.1:c.5442C>T	XP_016878433.1:p.Cys1814=
NM_004380.3:c.5448C>T MANE Select	NP_004371.2:p.Cys1816=