Canonical Allele Identifier: CA414449034

Gene: FMR1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147948776C>T , CM000685.2:g.147948776C>T	GRCh38
NC_000023.10:g.147030296C>T , CM000685.1:g.147030296C>T	GRCh37
NC_000023.9:g.146837988C>T	NCBI36
NG_007529.1:g.41788C>T
NG_007529.2:g.41786C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002024.6:c.1831C>T MANE Select	NP_002015.1:p.Arg611Cys
ENST00000370475.9:c.1831C>T MANE Select	ENSP00000359506.5:p.Arg611Cys
NM_001185075.1:c.1560C>T	NP_001172004.1:p.Ile520=
NM_001185075.2:c.1560C>T	NP_001172004.1:p.Ile520=
NM_001185076.1:c.1768C>T	NP_001172005.1:p.Arg590Cys
NM_001185076.2:c.1768C>T	NP_001172005.1:p.Arg590Cys
NM_001185081.1:c.1497C>T	NP_001172010.1:p.Ile499=
NM_001185081.2:c.1497C>T	NP_001172010.1:p.Ile499=
NM_001185082.1:c.1693C>T	NP_001172011.1:p.Arg565Cys
NM_001185082.2:c.1693C>T	NP_001172011.1:p.Arg565Cys
NM_002024.5:c.1831C>T	NP_002015.1:p.Arg611Cys
NR_033699.1:n.1864C>T
NR_033699.2:n.1896C>T
NR_033700.1:n.1801C>T
NR_033700.2:n.1833C>T
ENST00000218200.12:c.1768C>T	ENSP00000218200.8:p.Arg590Cys
ENST00000370470.5:c.1705C>T	ENSP00000359501.1:p.Arg569Cys
ENST00000370471.7:c.1560C>T	ENSP00000359502.3:p.Ile520=
ENST00000370475.8:c.1831C>T	ENSP00000359506.4:p.Arg611Cys
ENST00000370477.5:c.1681C>T	ENSP00000359508.1:p.Arg561Cys
ENST00000439526.6:c.1711C>T	ENSP00000395923.2:p.Arg571Cys
ENST00000440235.6:c.1693C>T	ENSP00000413764.3:p.Arg565Cys
ENST00000475038.3:c.*1857C>T	ENSP00000480450.2:n.*1857C>T
ENST00000492846.2:n.3359C>T
ENST00000495717.6:c.*352C>T	ENSP00000481474.2:n.*352C>T
ENST00000616382.4:c.*149C>T	ENSP00000481058.1:n.*149C>T
ENST00000616382.5:c.*352C>T	ENSP00000481058.2:n.*352C>T
ENST00000620828.4:n.2487C>T
ENST00000621453.4:c.1581C>T	ENSP00000479528.1:p.Ile527=
ENST00000621987.5:c.1857C>T	ENSP00000477839.1:n.1857C>T
ENST00000685491.1:c.*83C>T	ENSP00000509963.1:n.*83C>T
ENST00000686086.1:c.1645C>T	ENSP00000510759.1:p.Arg549Cys
ENST00000687593.1:c.1717C>T	ENSP00000509270.1:p.Arg573Cys
ENST00000689517.1:c.1315C>T	ENSP00000510686.1:p.Arg439Cys
ENST00000689570.1:n.3359C>T
ENST00000690137.1:c.1780C>T	ENSP00000509813.1:p.Arg594Cys
ENST00000690216.1:c.1696C>T	ENSP00000510631.1:p.Arg566Cys
ENST00000691111.1:c.1732C>T	ENSP00000509552.1:p.Arg578Cys
ENST00000691214.1:c.1642C>T	ENSP00000510362.1:p.Arg548Cys
ENST00000691793.1:n.3410C>T
ENST00000692091.1:c.*1458C>T	ENSP00000509221.1:n.*1458C>T
ENST00000692108.1:c.1462C>T	ENSP00000508963.1:p.Arg488Cys
ENST00000693079.1:n.2326C>T
ENST00000693452.1:c.*1524C>T	ENSP00000510026.1:n.*1524C>T
ENST00000693512.1:c.1143C>T	ENSP00000509589.1:p.Ile381=