Canonical Allele Identifier: CA493279326

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786719G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736718G>T , CM000678.2:g.3736718G>T	GRCh38
NC_000016.9:g.3786719G>T , CM000678.1:g.3786719G>T	GRCh37
NC_000016.8:g.3726720G>T	NCBI36
NG_009873.1:g.148403C>A
NG_009873.2:g.148996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4492C>A MANE Select	ENSP00000262367.5:p.Arg1498=
ENST00000262367.9:c.4492C>A	ENSP00000262367.5:p.Arg1498=
ENST00000382070.7:c.4378C>A	ENSP00000371502.3:p.Arg1460=
ENST00000570939.2:c.3127C>A	ENSP00000461002.2:p.Arg1043=
ENST00000571763.5:n.282C>A
ENST00000574740.1:n.313C>A
ENST00000576720.1:n.3315C>A
NM_001079846.1:c.4378C>A	NP_001073315.1:p.Arg1460=
NM_004380.2:c.4492C>A	NP_004371.2:p.Arg1498=
XM_005255124.3:c.4447C>A	XP_005255181.1:p.Arg1483=
XM_005255125.3:c.4075C>A	XP_005255182.1:p.Arg1359=
XM_006720848.2:c.4231C>A	XP_006720911.1:p.Arg1411=
XM_011522380.1:c.4438C>A	XP_011520682.1:p.Arg1480=
XM_011522381.1:c.3739C>A	XP_011520683.1:p.Arg1247=
XM_005255124.4:c.4447C>A	XP_005255181.1:p.Arg1483=
XM_005255125.4:c.4075C>A	XP_005255182.1:p.Arg1359=
XM_006720848.3:c.4231C>A	XP_006720911.1:p.Arg1411=
XM_011522381.2:c.3739C>A	XP_011520683.1:p.Arg1247=
XM_017022944.1:c.4486C>A	XP_016878433.1:p.Arg1496=
NM_004380.3:c.4492C>A MANE Select	NP_004371.2:p.Arg1498=