Canonical Allele Identifier: CA645575179

Gene: CREBBP

Linked Data

• COSMIC: COSM3732528

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736814dup , CM000678.2:g.3736814dup	GRCh38
NC_000016.9:g.3786815dup , CM000678.1:g.3786815dup	GRCh37
NC_000016.8:g.3726816dup	NCBI36
NG_009873.1:g.148307dup
NG_009873.2:g.148900dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4396dup MANE Select	ENSP00000262367.5:p.Tyr1466LeufsTer13
ENST00000262367.9:c.4396dup	ENSP00000262367.5:p.Tyr1466LeufsTer13
ENST00000382070.7:c.4282dup	ENSP00000371502.3:p.Tyr1428LeufsTer13
ENST00000570939.2:c.3031dup	ENSP00000461002.2:p.Tyr1011LeufsTer13
ENST00000571763.5:n.186dup
ENST00000574740.1:n.217dup
ENST00000576720.1:n.3219dup
NM_001079846.1:c.4282dup	NP_001073315.1:p.Tyr1428LeufsTer13
NM_004380.2:c.4396dup	NP_004371.2:p.Tyr1466LeufsTer13
XM_005255124.3:c.4351dup	XP_005255181.1:p.Tyr1451LeufsTer13
XM_005255125.3:c.3979dup	XP_005255182.1:p.Tyr1327LeufsTer13
XM_006720848.2:c.4135dup	XP_006720911.1:p.Tyr1379LeufsTer13
XM_011522380.1:c.4342dup	XP_011520682.1:p.Tyr1448LeufsTer13
XM_011522381.1:c.3643dup	XP_011520683.1:p.Tyr1215LeufsTer13
XM_005255124.4:c.4351dup	XP_005255181.1:p.Tyr1451LeufsTer13
XM_005255125.4:c.3979dup	XP_005255182.1:p.Tyr1327LeufsTer13
XM_006720848.3:c.4135dup	XP_006720911.1:p.Tyr1379LeufsTer13
XM_011522381.2:c.3643dup	XP_011520683.1:p.Tyr1215LeufsTer13
XM_017022944.1:c.4390dup	XP_016878433.1:p.Tyr1464LeufsTer13
NM_004380.3:c.4396dup MANE Select	NP_004371.2:p.Tyr1466LeufsTer13