Canonical Allele Identifier: CA2202928462

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728059G= , CM000678.2:g.3728059G=	GRCh38
NC_000016.9:g.3778060G= , CM000678.1:g.3778060G=	GRCh37
NC_000016.8:g.3718061G=	NCBI36
NG_009873.1:g.157062C=
NG_009873.2:g.157655C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6988C= MANE Select	ENSP00000262367.5:p.Leu2330=
ENST00000262367.9:c.6988C=	ENSP00000262367.5:p.Leu2330=
ENST00000382070.7:c.6874C=	ENSP00000371502.3:p.Leu2292=
NM_001079846.1:c.6874C=	NP_001073315.1:p.Leu2292=
NM_004380.2:c.6988C=	NP_004371.2:p.Leu2330=
XM_005255124.3:c.6943C=	XP_005255181.1:p.Leu2315=
XM_005255125.3:c.6571C=	XP_005255182.1:p.Leu2191=
XM_006720848.2:c.6727C=	XP_006720911.1:p.Leu2243=
XM_011522380.1:c.6934C=	XP_011520682.1:p.Leu2312=
XM_011522381.1:c.6235C=	XP_011520683.1:p.Leu2079=
XM_005255124.4:c.6943C=	XP_005255181.1:p.Leu2315=
XM_005255125.4:c.6571C=	XP_005255182.1:p.Leu2191=
XM_006720848.3:c.6727C=	XP_006720911.1:p.Leu2243=
XM_011522381.2:c.6235C=	XP_011520683.1:p.Leu2079=
XM_017022944.1:c.6982C=	XP_016878433.1:p.Leu2328=
NM_004380.3:c.6988C= MANE Select	NP_004371.2:p.Leu2330=