Canonical Allele Identifier: CA414445429

Gene: FMR1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147943180G>A , CM000685.2:g.147943180G>A	GRCh38
NC_000023.10:g.147024700G>A , CM000685.1:g.147024700G>A	GRCh37
NC_000023.9:g.146832392G>A	NCBI36
NG_007529.1:g.36192G>A
NG_007529.2:g.36190G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002024.6:c.1325G>A MANE Select	NP_002015.1:p.Arg442Gln
ENST00000370475.9:c.1325G>A MANE Select	ENSP00000359506.5:p.Arg442Gln
NM_001185075.1:c.1276-1764G>A	NP_001172004.1:n.1276-1764G>A
NM_001185075.2:c.1276-1764G>A	NP_001172004.1:n.1276-1764G>A
NM_001185076.1:c.1262G>A	NP_001172005.1:p.Arg421Gln
NM_001185076.2:c.1262G>A	NP_001172005.1:p.Arg421Gln
NM_001185081.1:c.1213-1764G>A	NP_001172010.1:n.1213-1764G>A
NM_001185081.2:c.1213-1764G>A	NP_001172010.1:n.1213-1764G>A
NM_001185082.1:c.1262G>A	NP_001172011.1:p.Arg421Gln
NM_001185082.2:c.1262G>A	NP_001172011.1:p.Arg421Gln
NM_002024.5:c.1325G>A	NP_002015.1:p.Arg442Gln
NR_033699.1:n.1505-1689G>A
NR_033699.2:n.1537-1689G>A
NR_033700.1:n.1442-1689G>A
NR_033700.2:n.1474-1689G>A
ENST00000218200.12:c.1262G>A	ENSP00000218200.8:p.Arg421Gln
ENST00000370470.5:c.1325G>A	ENSP00000359501.1:p.Arg442Gln
ENST00000370471.7:c.1276-1764G>A	ENSP00000359502.3:n.1276-1764G>A
ENST00000370475.8:c.1325G>A	ENSP00000359506.4:p.Arg442Gln
ENST00000370477.5:c.1262G>A	ENSP00000359508.1:p.Arg421Gln
ENST00000439526.6:c.1256G>A	ENSP00000395923.2:p.Arg419Gln
ENST00000440235.6:c.1262G>A	ENSP00000413764.3:p.Arg421Gln
ENST00000475038.3:c.*1081G>A	ENSP00000480450.2:n.*1081G>A
ENST00000492846.1:n.132G>A
ENST00000492846.2:n.1362G>A
ENST00000495717.6:c.1262G>A	ENSP00000481474.2:p.Arg421Gln
ENST00000611273.1:n.556G>A
ENST00000616382.4:c.1238+24G>A	ENSP00000481058.1:n.1238+24G>A
ENST00000616382.5:c.1262G>A	ENSP00000481058.2:p.Arg421Gln
ENST00000620828.4:n.1981G>A
ENST00000621453.4:c.1127G>A	ENSP00000479528.1:p.Arg376Gln
ENST00000621453.5:c.1262G>A	ENSP00000479528.2:p.Arg421Gln
ENST00000621987.5:c.1402G>A	ENSP00000477839.1:n.1402G>A
ENST00000685491.1:c.1262G>A	ENSP00000509963.1:p.Arg421Gln
ENST00000686086.1:c.1190G>A	ENSP00000510759.1:p.Arg397Gln
ENST00000687593.1:c.1262G>A	ENSP00000509270.1:p.Arg421Gln
ENST00000689517.1:c.845G>A	ENSP00000510686.1:p.Arg282Gln
ENST00000689570.1:n.1362G>A
ENST00000690137.1:c.1325G>A	ENSP00000509813.1:p.Arg442Gln
ENST00000690216.1:c.1325G>A	ENSP00000510631.1:p.Arg442Gln
ENST00000691111.1:c.1262G>A	ENSP00000509552.1:p.Arg421Gln
ENST00000691214.1:c.1262G>A	ENSP00000510362.1:p.Arg421Gln
ENST00000691793.1:n.1362G>A
ENST00000692091.1:c.*1018G>A	ENSP00000509221.1:n.*1018G>A
ENST00000692108.1:c.1007G>A	ENSP00000508963.1:p.Arg336Gln
ENST00000693079.1:n.1820G>A
ENST00000693452.1:c.*1018G>A	ENSP00000510026.1:n.*1018G>A
ENST00000693512.1:c.991-1845G>A	ENSP00000509589.1:n.991-1845G>A