Canonical Allele Identifier: CA493394360

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310631
• gnomAD v4: 16-3729590-G-A
• MyVariant Identifiers: chr16:g.3779591G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729590G>A , CM000678.2:g.3729590G>A	GRCh38
NC_000016.9:g.3779591G>A , CM000678.1:g.3779591G>A	GRCh37
NC_000016.8:g.3719592G>A	NCBI36
NG_009873.1:g.155531C>T
NG_009873.2:g.156124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5457C>T MANE Select	ENSP00000262367.5:p.Cys1819=
ENST00000262367.9:c.5457C>T	ENSP00000262367.5:p.Cys1819=
ENST00000382070.7:c.5343C>T	ENSP00000371502.3:p.Cys1781=
NM_001079846.1:c.5343C>T	NP_001073315.1:p.Cys1781=
NM_004380.2:c.5457C>T	NP_004371.2:p.Cys1819=
XM_005255124.3:c.5412C>T	XP_005255181.1:p.Cys1804=
XM_005255125.3:c.5040C>T	XP_005255182.1:p.Cys1680=
XM_006720848.2:c.5196C>T	XP_006720911.1:p.Cys1732=
XM_011522380.1:c.5403C>T	XP_011520682.1:p.Cys1801=
XM_011522381.1:c.4704C>T	XP_011520683.1:p.Cys1568=
XM_005255124.4:c.5412C>T	XP_005255181.1:p.Cys1804=
XM_005255125.4:c.5040C>T	XP_005255182.1:p.Cys1680=
XM_006720848.3:c.5196C>T	XP_006720911.1:p.Cys1732=
XM_011522381.2:c.4704C>T	XP_011520683.1:p.Cys1568=
XM_017022944.1:c.5451C>T	XP_016878433.1:p.Cys1817=
NM_004380.3:c.5457C>T MANE Select	NP_004371.2:p.Cys1819=