Canonical Allele Identifier: CA394556031

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779493T>G (hg19) ; chr16:g.3729492T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729492T>G , CM000678.2:g.3729492T>G	GRCh38
NC_000016.9:g.3779493T>G , CM000678.1:g.3779493T>G	GRCh37
NC_000016.8:g.3719494T>G	NCBI36
NG_009873.1:g.155629A>C
NG_009873.2:g.156222A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5555A>C MANE Select	ENSP00000262367.5:p.Gln1852Pro
ENST00000262367.9:c.5555A>C	ENSP00000262367.5:p.Gln1852Pro
ENST00000382070.7:c.5441A>C	ENSP00000371502.3:p.Gln1814Pro
NM_001079846.1:c.5441A>C	NP_001073315.1:p.Gln1814Pro
NM_004380.2:c.5555A>C	NP_004371.2:p.Gln1852Pro
XM_005255124.3:c.5510A>C	XP_005255181.1:p.Gln1837Pro
XM_005255125.3:c.5138A>C	XP_005255182.1:p.Gln1713Pro
XM_006720848.2:c.5294A>C	XP_006720911.1:p.Gln1765Pro
XM_011522380.1:c.5501A>C	XP_011520682.1:p.Gln1834Pro
XM_011522381.1:c.4802A>C	XP_011520683.1:p.Gln1601Pro
XM_005255124.4:c.5510A>C	XP_005255181.1:p.Gln1837Pro
XM_005255125.4:c.5138A>C	XP_005255182.1:p.Gln1713Pro
XM_006720848.3:c.5294A>C	XP_006720911.1:p.Gln1765Pro
XM_011522381.2:c.4802A>C	XP_011520683.1:p.Gln1601Pro
XM_017022944.1:c.5549A>C	XP_016878433.1:p.Gln1850Pro
NM_004380.3:c.5555A>C MANE Select	NP_004371.2:p.Gln1852Pro