Canonical Allele Identifier: CA493280397

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052177334
• MyVariant Identifiers: chr16:g.3790492C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740491C>G , CM000678.2:g.3740491C>G	GRCh38
NC_000016.9:g.3790492C>G , CM000678.1:g.3790492C>G	GRCh37
NC_000016.8:g.3730493C>G	NCBI36
NG_009873.1:g.144630G>C
NG_009873.2:g.145223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4041G>C MANE Select	ENSP00000262367.5:p.Arg1347=
ENST00000262367.9:c.4041G>C	ENSP00000262367.5:p.Arg1347=
ENST00000382070.7:c.3927G>C	ENSP00000371502.3:p.Arg1309=
ENST00000570939.2:c.2676G>C	ENSP00000461002.2:p.Arg892=
ENST00000572569.1:n.505G>C
ENST00000573517.6:c.347G>C
ENST00000574740.1:n.123G>C
ENST00000576720.1:n.2978G>C
NM_001079846.1:c.3927G>C	NP_001073315.1:p.Arg1309=
NM_004380.2:c.4041G>C	NP_004371.2:p.Arg1347=
XM_005255124.3:c.3996G>C	XP_005255181.1:p.Arg1332=
XM_005255125.3:c.3624G>C	XP_005255182.1:p.Arg1208=
XM_006720848.2:c.4041G>C	XP_006720911.1:p.Arg1347=
XM_011522380.1:c.3987G>C	XP_011520682.1:p.Arg1329=
XM_011522381.1:c.3288G>C	XP_011520683.1:p.Arg1096=
XM_005255124.4:c.3996G>C	XP_005255181.1:p.Arg1332=
XM_005255125.4:c.3624G>C	XP_005255182.1:p.Arg1208=
XM_006720848.3:c.4041G>C	XP_006720911.1:p.Arg1347=
XM_011522381.2:c.3288G>C	XP_011520683.1:p.Arg1096=
XM_017022944.1:c.4035G>C	XP_016878433.1:p.Arg1345=
NM_004380.3:c.4041G>C MANE Select	NP_004371.2:p.Arg1347=