Canonical Allele Identifier: CA394564914

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 694781
• ClinVar RCV Id: RCV000856873
• dbSNP Id: rs1596812306
• COSMIC: COSM5886913
• MyVariant Identifiers: chr16:g.3789685G>A (hg19) ; chr16:g.3739684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739684G>A , CM000678.2:g.3739684G>A	GRCh38
NC_000016.9:g.3789685G>A , CM000678.1:g.3789685G>A	GRCh37
NC_000016.8:g.3729686G>A	NCBI36
NG_009873.1:g.145437C>T
NG_009873.2:g.146030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4174C>T MANE Select	ENSP00000262367.5:p.Arg1392Ter
ENST00000262367.9:c.4174C>T	ENSP00000262367.5:p.Arg1392Ter
ENST00000382070.7:c.4060C>T	ENSP00000371502.3:p.Arg1354Ter
ENST00000570939.2:c.2809C>T	ENSP00000461002.2:p.Arg937Ter
ENST00000573517.6:c.480C>T
ENST00000574740.1:n.215+715C>T
ENST00000576720.1:n.3111C>T
NM_001079846.1:c.4060C>T	NP_001073315.1:p.Arg1354Ter
NM_004380.2:c.4174C>T	NP_004371.2:p.Arg1392Ter
XM_005255124.3:c.4129C>T	XP_005255181.1:p.Arg1377Ter
XM_005255125.3:c.3757C>T	XP_005255182.1:p.Arg1253Ter
XM_006720848.2:c.4133+715C>T	XP_006720911.1:n.4133+715C>T
XM_011522380.1:c.4120C>T	XP_011520682.1:p.Arg1374Ter
XM_011522381.1:c.3421C>T	XP_011520683.1:p.Arg1141Ter
XM_005255124.4:c.4129C>T	XP_005255181.1:p.Arg1377Ter
XM_005255125.4:c.3757C>T	XP_005255182.1:p.Arg1253Ter
XM_006720848.3:c.4133+715C>T	XP_006720911.1:n.4133+715C>T
XM_011522381.2:c.3421C>T	XP_011520683.1:p.Arg1141Ter
XM_017022944.1:c.4168C>T	XP_016878433.1:p.Arg1390Ter
NM_004380.3:c.4174C>T MANE Select	NP_004371.2:p.Arg1392Ter