Canonical Allele Identifier: CA2202993982

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850347T= , CM000678.2:g.3850347T=	GRCh38
NC_000016.9:g.3900348T= , CM000678.1:g.3900348T=	GRCh37
NC_000016.8:g.3840349T=	NCBI36
NG_009873.1:g.34774A=
NG_009873.2:g.35367A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.748A= MANE Select	ENSP00000262367.5:p.Met250=
ENST00000262367.9:c.748A=	ENSP00000262367.5:p.Met250=
ENST00000382070.7:c.748A=	ENSP00000371502.3:p.Met250=
NM_001079846.1:c.748A=	NP_001073315.1:p.Met250=
NM_004380.2:c.748A=	NP_004371.2:p.Met250=
XM_005255124.3:c.748A=	XP_005255181.1:p.Met250=
XM_005255125.3:c.748A=	XP_005255182.1:p.Met250=
XM_006720848.2:c.748A=	XP_006720911.1:p.Met250=
XM_011522380.1:c.694A=	XP_011520682.1:p.Met232=
XM_011522382.1:c.748A=	XP_011520684.1:p.Met250=
XM_005255124.4:c.748A=	XP_005255181.1:p.Met250=
XM_005255125.4:c.748A=	XP_005255182.1:p.Met250=
XM_006720848.3:c.748A=	XP_006720911.1:p.Met250=
XM_011522382.3:c.748A=	XP_011520684.1:p.Met250=
XM_017022944.1:c.748A=	XP_016878433.1:p.Met250=
NM_004380.3:c.748A= MANE Select	NP_004371.2:p.Met250=