Canonical Allele Identifier: CA1842215152

Gene: C9orf72

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27561051T= , CM000671.2:g.27561051T=	GRCh38
NC_000009.11:g.27561049T= , CM000671.1:g.27561049T=	GRCh37
NC_000009.10:g.27551049T=	NCBI36
NG_031977.1:g.17816A=
NG_031977.2:g.17816A=

Transcript Alleles

HGVS	Amino-acid Change
NM_018325.5:c.665+534A= MANE Select	NP_060795.1:n.665+534A=
ENST00000380003.8:c.665+534A= MANE Select	ENSP00000369339.3:n.665+534A=
NM_001256054.2:c.665+534A=	NP_001242983.1:n.665+534A=
NM_001256054.3:c.665+534A=	NP_001242983.1:n.665+534A=
NM_018325.4:c.665+534A=	NP_060795.1:n.665+534A=
NM_145005.6:c.*530A=	NP_659442.2:n.*530A=
NM_145005.7:c.*530A=	NP_659442.2:n.*530A=
ENST00000379997.7:c.*530A=	ENSP00000369333.3:n.*530A=
ENST00000380003.7:c.665+534A=	ENSP00000369339.3:n.665+534A=
ENST00000488117.5:n.727+534A=
ENST00000619707.4:c.665+534A=	ENSP00000482753.1:n.665+534A=
ENST00000619707.5:c.665+534A=	ENSP00000482753.1:n.665+534A=
ENST00000644136.1:c.665+534A=	ENSP00000494872.1:n.665+534A=
ENST00000647196.1:c.665+534A=	ENSP00000494839.1:n.665+534A=
ENST00000673600.1:c.665+534A=	ENSP00000500650.1:n.665+534A=