Canonical Allele Identifier: CA493280135

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3789686A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739685A>G , CM000678.2:g.3739685A>G	GRCh38
NC_000016.9:g.3789686A>G , CM000678.1:g.3789686A>G	GRCh37
NC_000016.8:g.3729687A>G	NCBI36
NG_009873.1:g.145436T>C
NG_009873.2:g.146029T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4173T>C MANE Select	ENSP00000262367.5:p.Tyr1391=
ENST00000262367.9:c.4173T>C	ENSP00000262367.5:p.Tyr1391=
ENST00000382070.7:c.4059T>C	ENSP00000371502.3:p.Tyr1353=
ENST00000570939.2:c.2808T>C	ENSP00000461002.2:p.Tyr936=
ENST00000573517.6:c.479T>C
ENST00000574740.1:n.215+714T>C
ENST00000576720.1:n.3110T>C
NM_001079846.1:c.4059T>C	NP_001073315.1:p.Tyr1353=
NM_004380.2:c.4173T>C	NP_004371.2:p.Tyr1391=
XM_005255124.3:c.4128T>C	XP_005255181.1:p.Tyr1376=
XM_005255125.3:c.3756T>C	XP_005255182.1:p.Tyr1252=
XM_006720848.2:c.4133+714T>C	XP_006720911.1:n.4133+714T>C
XM_011522380.1:c.4119T>C	XP_011520682.1:p.Tyr1373=
XM_011522381.1:c.3420T>C	XP_011520683.1:p.Tyr1140=
XM_005255124.4:c.4128T>C	XP_005255181.1:p.Tyr1376=
XM_005255125.4:c.3756T>C	XP_005255182.1:p.Tyr1252=
XM_006720848.3:c.4133+714T>C	XP_006720911.1:n.4133+714T>C
XM_011522381.2:c.3420T>C	XP_011520683.1:p.Tyr1140=
XM_017022944.1:c.4167T>C	XP_016878433.1:p.Tyr1389=
NM_004380.3:c.4173T>C MANE Select	NP_004371.2:p.Tyr1391=