Canonical Allele Identifier: CA493394104

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779522G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729521G>A , CM000678.2:g.3729521G>A	GRCh38
NC_000016.9:g.3779522G>A , CM000678.1:g.3779522G>A	GRCh37
NC_000016.8:g.3719523G>A	NCBI36
NG_009873.1:g.155600C>T
NG_009873.2:g.156193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5526C>T MANE Select	ENSP00000262367.5:p.Phe1842=
ENST00000262367.9:c.5526C>T	ENSP00000262367.5:p.Phe1842=
ENST00000382070.7:c.5412C>T	ENSP00000371502.3:p.Phe1804=
NM_001079846.1:c.5412C>T	NP_001073315.1:p.Phe1804=
NM_004380.2:c.5526C>T	NP_004371.2:p.Phe1842=
XM_005255124.3:c.5481C>T	XP_005255181.1:p.Phe1827=
XM_005255125.3:c.5109C>T	XP_005255182.1:p.Phe1703=
XM_006720848.2:c.5265C>T	XP_006720911.1:p.Phe1755=
XM_011522380.1:c.5472C>T	XP_011520682.1:p.Phe1824=
XM_011522381.1:c.4773C>T	XP_011520683.1:p.Phe1591=
XM_005255124.4:c.5481C>T	XP_005255181.1:p.Phe1827=
XM_005255125.4:c.5109C>T	XP_005255182.1:p.Phe1703=
XM_006720848.3:c.5265C>T	XP_006720911.1:p.Phe1755=
XM_011522381.2:c.4773C>T	XP_011520683.1:p.Phe1591=
XM_017022944.1:c.5520C>T	XP_016878433.1:p.Phe1840=
NM_004380.3:c.5526C>T MANE Select	NP_004371.2:p.Phe1842=